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Bardet-Biedl Syndrome 1 OMIM

In more than one-fourth of the pedigrees, linkage to no known locus could be established, suggesting the existence of a fifth BBS locus. Reviews Khan et al. (2016) reviewed the clinical spectrum and genetics of BBS, including genotype-phenotype correlations and contribution of each responsible gene to the total BBS mutational load. ... The authors conducted a comprehensive sequence analysis of all 14 BBS genes as well as the modifier gene CCDC28B (610162) in a cohort of 29 Arab BBS families. ... Croft et al. (1995) studied obesity and hypertension among nonhomozygous relatives of BBS patients, hypothesizing that BBS heterozygotes might be predisposed to these conditions. ... They concluded that the BBS gene may predispose male heterozygotes to obesity. ... In more than one-fourth of the pedigrees, linkage to no known locus could be established, suggesting the existence of a fifth BBS locus. Katsanis et al. (1999) collected a large number of BBS pedigrees of primarily North American and European origin and performed genetic analysis using microsatellites from all known BBS genomic regions.

MKS1, BBS10, SDCCAG8, LZTFL1, BBIP1, CEP290, ARL6, IFT27, BBS2, MKKS, BBS4, BBS1, TTC8, ALMS1, IFT172, C8orf37, NPHP1, TMEM67, TBC1D32, BBS7, TRIM32, BBS9, BBS5, BBS12, TRAPPC3, ASTN2, PIGX, CEP19, ZDHHC24, CCDC28B, LEP, GLIS2, RTEL1, PLLP, PYY3, SULT1A4, PEG13, AZIN1, STOML3, RIN2, MAGEL2, CBLL2, MARVELD2, MYO3B, INPP5E, USP35, MUL1, WDPCP, IFT74, CEP131, SCAPER, INVS, NPY2R, NPY, NMB, NDN, MYO9A, MYO7A, RAB8A, KIFC3, KIF2A, INSR, IL18, GPT, GFAP, ERG, CCT, TNFRSF11B, PRKN, PCM1, ADIPOQ, CEP164, STUB1, FEM1B, RAPGEF5, IQCB1, FEZ1, TRPV1, PDE6B, VEGFA, SULT1A3, RHO, RFX1, RCVRN, PECAM1, SLX1A-SULT1A3
- Bardet-Biedl Syndrome 21 OMIM
  
  Based on the presence of 3 primary features of BBS (retinal dystrophy, polydactyly, and obesity) and 2 secondary features (speech delay and abnormal dentition), the patient was diagnosed with Bardet-Biedl syndrome. Khan et al. (2016) noted that this patient exhibited cone-rod dystrophy, rather than the rod-cone dystrophy more commonly associated with BBS. Molecular Genetics In a 17-year-old girl with BBS, who was negative for mutation in known BBS-associated genes, Heon et al. (2016) performed whole-genome sequencing and identified homozygosity for a nonsense mutation in the C8ORF37 gene (K102X; 614477.0007) that segregated fully with disease in the family. Direct sequencing of C8ORF37 in 53 additional unrelated BBS patients did not detect any more disease-causing mutations. Noting that some patients with apparently nonsyndromic C8ORF37-associated retinal disease (see 614500) also exhibited polydactyly, Heon et al. (2016) questioned whether that finding was truly isolated, since signs of BBS may be mild and overlooked if not functionally significant. In a 6-year-old Saudi Arabian boy with BBS, who was negative for 2 known hotspot mutations in the BBS1 (209901) and BBS10 (610148) genes, Khan et al. (2016) performed targeted next-generation sequencing of BBS-associated genes but did not find any putatively pathogenic mutations.
- Bardet-Biedl Syndrome 4 OMIM
  
  Iannaccone et al. (2005) concluded that the BBS4 gene plays a role in olfaction, supporting the hypothesis that ciliary dysfunction is an important aspect of BBS pathogenesis. They suggested that the spectrum of clinical manifestations associated with BBS be broadened to include decreased olfaction. Genotype/Phenotype Correlations Carmi et al. (1995) compared the clinical manifestations of BBS in 3 unrelated, extended Arab-Bedouin kindreds in which linkage had been demonstrated to chromosomes 3 (BBS3; 600151), 15 (BBS4), and 16 (BBS2; 615981). ... The chromosome 15 type is associated with early-onset morbid obesity, while the chromosome 16 type appears to present the 'leanest' end of BBS. Mapping Carmi et al. (1995) used a DNA pooling approach with DNA samples from a highly inbred Bedouin kindred to identify a Bardet-Biedl syndrome locus on chromosome 15. ... Identification of the genes involved in these 4 genetic forms of BBS may aid in the understanding of common disorders such as obesity, hypertension, and diabetes. ... Katsanis et al. (2002) detected mutation in the BBS4 gene (e.g., 600374.0003, 600374.0004) in 5 of 177 BBS families in a multiethnic patient cohort.
- Bardet–biedl Syndrome Wikipedia
  
  Bardet–Biedl syndrome Other names Biedl-Bardet Syndrome [1] This condition is often inherited via autosomal recessive manner (including digenic recessive); but epigenetic phennomena also cause some of the variation seen in BBS Specialty Medical genetics Bardet–Biedl syndrome ( BBS ) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. ... Thus, BBS is a ciliopathy . Other known ciliopathies include primary ciliary dyskinesia , polycystic kidney and liver disease , nephronophthisis , Alström syndrome , Meckel–Gruber syndrome and some forms of retinal degeneration . [6] Pathophysiology [ edit ] The detailed biochemical mechanism that leads to BBS is still unclear. The gene products encoded by these BBS genes, called BBS proteins, are located in the basal body and cilia of the cell . [7] Using the round worm C. elegans as a model system, biologists found that BBS proteins are involved in a process called intraflagellar transport (IFT), a bi-directional transportation activity within the cilia along the long axis of the ciliary shaft that is essential for ciliogenesis and the maintenance of cilia. [8] Recent biochemical analysis of human BBS proteins revealed that BBS proteins are assembled into a multiple protein complex, called "BBSome". ... S2CID 4310157 . ^ Blacque OE, Reardon MJ, Li C, McCarthy J, Mahjoub MR, Ansley SJ, Badano JL, Mah AK, Beales PL, Davidson WS, Johnsen RC, Audeh M, Plasterk RH, Baillie DL, Katsanis N, Quarmby LM, Wicks SR, Leroux MR (2004). "Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport" . ... "OMIM entry #209900 Bardet-Biedl Syndrome; BBS" . Online Mendelian Inheritance in Man .
- Bardet-Biedl Syndrome GARD
  
  Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body.
- Bardet-Biedl Syndrome 13 OMIM
  
  Leitch et al. (2008) concluded that their data extended the genetic stratification of ciliopathies and suggested that BBS and Meckel syndrome (see 609883), although distinct clinically, are allelic forms of the same molecular spectrum.
- Bardet-Biedl Syndrome Orphanet
  
  Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. ... Pigmentary retinopathy is the only constant clinical sign after childhood. BBS may also be associated with several other manifestations including diabetes, hypertension, congenital cardiopathy and Hirschsprung disease (see this term). Etiology The wide clinical spectrum observed in BBS is associated with significant genetic heterogeneity. ... These genes code for proteins involved in the development and function of primary cilia. Absence or dysfunction of BBS proteins results in ciliary anomalies in organs such as the kidney or eye. ... Management and treatment Patients with BBS will need multidisciplinary medical care.
- Bardet-Biedl Syndrome 2 OMIM
  
  Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009). ... By this approach, they identified linkage of the BBS locus to markers that mapped to 16q21. ... They detected homozygous mutations in the BBS2 gene (606151.0001-606151.0002) in 2 unrelated BBS families, including a large Bedouin family previously reported by Kwitek-Black et al. (1993) (family 1). Direct sequencing of the BBS2 gene in 18 additional BBS probands identified 1 homozygous truncating mutation in 1 patient. Katsanis et al. (2001) screened a cohort of 163 BBS families for mutations in BBS2 and BBS6 and identified 6 BBS pedigrees in which 2 independent BBS2 mutations segregated with the disorder.
- Bardet-Biedl Syndrome 17 OMIM
  
  Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014). ... Clinical Features Deffert et al. (2007) studied 2 sibs with Bardet-Biedl syndrome (BBS) from a consanguineous Algerian family. ... Schaefer et al. (2014) described dizygotic twin sisters with BBS who were 36 years old at the time of the report.
- Bardet-Biedl Syndrome 3 OMIM
  
  Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. ... Young et al. (1998) described a Newfoundland kindred of Northern European descent with BBS and narrowed the chromosome 3p critical region to 6 cM between D3S1595 and D3S1753. ... Genotype/Phenotype Correlations Carmi et al. (1995) compared the clinical manifestations of BBS in 3 unrelated, extended Arab-Bedouin kindreds in which linkage had been demonstrated to chromosomes 3 (BBS3), 15 (BBS4; 615982), and 16 (BBS2; 615981). ... The chromosome 15 type is associated with early-onset morbid obesity, while the chromosome 16 type appears to present the 'leanest' end of BBS. Molecular Genetics In the Israeli Bedouin family with BBS3 originally described by Kwitek-Black et al. (1993) and Sheffield et al. (1994), Chiang et al. (2004) detected homozygosity for a nonsense mutation in exon 7 of the ARL6 gene (R122X; 608845.0001). ... They thus demonstrated that there are 2 genetic forms of BBS in the Bedouin population of the Middle East, one determined by a chromosome 16 gene (BBS2; 606151) and one determined by a chromosome 3 gene (BBS3).
- Bardet-Biedl Syndrome 19 OMIM
  
  Clinical Features Aldahmesh et al. (2014) reported 2 sibs with BBS from a consanguineous Saudi family. ... Molecular Genetics In a brother and sister with BBS from a consanguineous Saudi family, Aldahmesh et al. (2014) detected homozygosity for a missense mutation at a highly conserved residue of IFT27 (615870.0001).
- Bardet-Biedl Syndrome 18 OMIM
  
  Clinical Features Scheidecker et al. (2014) studied a patient with Bardet-Biedl syndrome (BBS) who was the only affected sib of 4 born to consanguineous Italian parents. ... INHERITANCE - Autosomal recessive GROWTH Weight - Obesity HEAD & NECK Eyes - Retinitis pigmentosa - Retinal dystrophy - Cataracts GENITOURINARY Kidneys - Renal failure SKELETAL Hands - Brachydactyly NEUROLOGIC Central Nervous System - Cognitive impairment - Learning disabilities MISCELLANEOUS - One patient has been reported (last curated October 2014) MOLECULAR BASIS - Caused by mutation in the BBS protein complex-interacting protein 1 gene (BBIP1, 613605.0001 ) ▲ Close
- Bardet-Biedl Syndrome 16 OMIM
  
  Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient (Billingsley et al., 2012). ... Clinical Features Billingsley et al. (2012) studied 2 female sibs of East Indian descent with BBS. Both subjects, aged 16 and 13 year, respectively, developed end-stage renal disease that required transplantation at 11 and 9 years of age, respectively. ... Molecular Genetics Otto et al. (2010) carried out an independent homozygosity mapping study on 22 consanguineous families diagnosed with Bardet-Biedl syndrome in whom no mutation had been detected in any of the 12 BBS genes known at that time. They identified homozygosity for mutation in the SDCCAG8 gene in 2 families (613524.0004, 613524.0005). ... In 2 sibs of East Indian descent with BBS, Billingsley et al. (2012) identified the same compound heterozygous truncating mutations in the SDCCAG8 gene that had been identified by Otto et al. (2010).
- Bardet-Biedl Syndrome 10 OMIM
  
  BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009). ... Clinical Features In 6 patients with molecularly confirmed BBS, including 3 patients with BBS10, Scheidecker et al. (2015) found a cone-rod pattern of dysfunction. ... Molecular Genetics Stoetzel et al. (2006) identified mutations in the putative chaperonin gene BBS10 in 21% (65/311) of an unselected cohort of BBS families of various ethnic origins, including some families with mutations in other BBS genes, consistent with oligogenic inheritance. ... Stoetzel et al. (2006) concluded that BBS10 is a major BBS gene, mutated as frequently as BBS1 (209901). ... Population Genetics Stoetzel et al. (2006) found that the BBS10 gene was mutated in about 20% of an unselected cohort of BBS families of various ethnic origins.
- Bardet-Biedl Syndrome 9 OMIM
  
  The findings indicated an unusually high degree of intrafamilial variability in BBS. Molecular Genetics Nishimura et al. (2005) detected homozygosity for a mutation at the splice donor site of intron 17 of the PTHB1 gene (607968.0001) in the proband of a consanguineous Arab family. Screening of 95 unrelated BBS probands detected 5 probands with a homozygous mutation in PTHB1 and 1 proband with compound heterozygous mutations. In 3 sibs, 1 with the major features of BBS and 2 with retinitis pigmentosa only, Abu-Safieh et al. (2012) found homozygosity for a frameshift mutation in the PTHB1 gene (607968.0008).
- Bardet-Biedl Syndrome 11 OMIM
  
  Molecular Genetics Chiang et al. (2006) studied a consanguineous Bedouin family with 4 sibs with BBS in which linkage studies had failed to identify a disease locus.
- Bardet-Biedl Syndrome 8 OMIM
  
  Pathogenesis Ansley et al. (2003) demonstrated that BBS is probably caused by a defect of the basal body of ciliated cells. ... In 1 family a homozygous null BBS8 mutation (608132.0002) led to BBS with randomization of left-right body axis symmetry, a defect of the nodal cilium. ... Molecular Genetics Ansley et al. (2003) screened the TTC8 gene in a cohort of 120 unrelated BBS patients. They identified homozygous alterations (608132.0001 and 608132.0002) in patients from 3 families. ... Stoetzel et al. (2006) identified homozygous mutations in the TTC8 gene (608132.0003 and 608132.0004) in 2 of 128 BBS families. One additional family had a heterozygous mutation. Stoetzel et al. (2006) concluded that TTC8 mutations account for only about 2% of BBS families. Using homozygosity mapping, Harville et al. (2010) identified 17 causative homozygous mutations in 20 families from a worldwide cohort of 45 BBS families.
- Bardet-Biedl Syndrome 5 OMIM
  
  The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% (Li et al., 2004) and 0.40% (Zaghloul and Katsanis, 2009). ... In a 22-year prospective cohort study of 46 patients from 26 Newfoundland families with BBS, Moore et al. (2005) found that 1 patient who had been diagnosed with Laurence-Moon syndrome (245800) was from a consanguineous family with BBS linked to the BBS5 gene. ... Moore et al. (2005) concluded that the features in this population did not support the notion that BBS and LMS are distinct. In 6 patients with molecularly confirmed BBS, including 1 patient with BBS5, Scheidecker et al. (2015) found a cone-rod pattern of dysfunction. ... Mapping By a genomewide scan of pooled DNA samples using microsatellite markers in a family with BBS, Young et al. (1999) demonstrated that the BBS5 locus maps to 2q31. ... Li et al. (2004) identified pathogenic mutations in the BBS5 gene in several other patients with BBS. Li et al. (2004) also presented evidence that BBS5 may interact genetically with BBS1 (209901).
- Bardet-Biedl Syndrome 12 OMIM
  
  Clinical Features Dulfer et al. (2010) reported 2 female sibs with BBS resulting from compound heterozygous truncating mutations in the BBS12 gene. ... The second pregnancy was terminated at 15 weeks' gestation after chorionic villus sampling identified the same 3 mutations in the second fetus, which had no external features of BBS and no abnormalities of the internal genitalia, although cystic renal dysplasia was present. Dulfer et al. (2010) noted the phenotypic variability between these sibs, and suggested that hydrometrocolpos should be considered a feature in females with BBS. In 6 patients with molecularly confirmed BBS, including 1 patient with BBS12, Scheidecker et al. (2015) found a cone-rod pattern of dysfunction. ... Molecular Genetics Using homozygosity mapping, Harville et al. (2010) identified 17 causative homozygous mutations in 20 families from a worldwide cohort of 45 BBS families. Three of these mutations occurred in the BBS12 gene. In affected members with BBS from 2 consanguineous Gypsy families, Stoetzel et al. (2007) identified the same homozygous nonsense mutation in the BBS12 gene (R355X; 610683.0001).
- Bardet-Biedl Syndrome 14 OMIM
  
  A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-14 (BBS14) is caused by homozygous mutation in the CEP290 gene (610142) on chromosome 12q21. One such patient has been reported. Description BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Molecular Genetics In an 11-year-old female with Bardet-Biedl syndrome from a consanguineous Saudi Arabian family, Leitch et al. (2008) identified homozygosity for a nonsense mutation in the CEP290 gene (610142.0013). The proband also carried a complex allele of the MKS3 gene (609884.0012) in heterozygosity.
- Bardet-Biedl Syndrome 6 OMIM
  
  Molecular Genetics Slavotinek et al. (2000) and Katsanis et al. (2000) identified mutations in the MKKS gene in patients with BBS. Slavotinek et al. (2000) ascertained 34 unrelated probands with classic features of BBS including retinitis pigmentosa, obesity, and polydactyly. They found MKKS mutations in 4 typical BBS probands. Three of the probands were from Newfoundland and were also included in the study of Katsanis et al. (2000). ... Katsanis et al. (2000) performed a genome screen in BBS families from Newfoundland in which linkage to known BBS loci had been excluded. ... Beales et al. (2001) collected a cohort of 163 BBS pedigrees from diverse ethnic backgrounds and evaluated them for mutations in the MKKS gene and for potential assignment of the disorder to any of the other known BBS loci. ... Six patients had mutations present in more than 1 chaperonin-like BBS gene, and 1 patient with a very severe phenotype had 4 mutations in BBS10.
- Bardet-Biedl Syndrome 20 OMIM
  
  Clinical Features Lindstrand et al. (2016) reported a 36-year-old man (AR672-04) with BBS. The patient had obesity, polydactyly, hypogonadism, intellectual disability, microcephaly, and retinitis pigmentosa. ... The patient was 1 of 92 probands with BBS who were screened for copy number variants in candidate genes. Another BBS patient (AR634-03) with biallelic mutations in the BBS7 gene (607590) carried a heterozygous missense variant in the IFT74 gene (V579M) suggesting oligogenic inheritance.
- Bardet-Biedl Syndrome 15 OMIM
  
  One such patient has been reported. Description BBS15 is a form of BBS caused by mutation in the WDPCP gene, a planar cell polarity gene (Kim et al., 2010). ... Molecular Genetics In a patient with a clinical diagnosis of BBS, Kim et al. (2010) identified a homozygous mutation in the WDPCP gene (613580.0001). ... Kim et al. (2010) also identified 2 heterozygous missense alleles of WDPCP in 2 individuals with BBS that were absent from 384 ethnically matched controls, HapMap, and 1000 Genomes. ... INHERITANCE - Autosomal recessive MISCELLANEOUS - One patient described as having BBS, but no clinical details have been reported (last curated October 2014) MOLECULAR BASIS - Caused by mutation in the WD repeat-containing planar cell polarity effector gene (WDPCP, 613580.0001 ) ▲ Close
- Bardet-Biedl Syndrome 7 OMIM
  
  Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%. For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). ... Molecular Genetics In 3 of 84 independent families of primarily European ancestry with BBS, Badano et al. (2003) identified biallelic mutations in the BBS7 gene (607590.0001-607590.0003). ... Harville et al. (2010) used homozygosity mapping in a worldwide cohort of 45 BBS families to identify 17 causative homozygous mutations in 20 families.
Mckusick-Kaufman Syndrome GeneReviews

However, discrimination between MKS and BBS in the neonatal period is challenging, as the age-dependent features of BBS (including retinal dystrophy, obesity, and intellectual disability) have not developed [Slavotinek & Biesecker 2000]. ... Renal Anomalies and GI Malformations Although both renal anomalies and GI malformations have been identified in those with a clinical diagnosis of MKS, not all of these individuals have had molecular genetic testing nor were they followed to an age in which an eye exam could exclude the diagnosis of BBS. Since these physical findings are more common in those with a molecularly confirmed diagnosis of BBS, they should prompt screening for other clinical manifestations of BBS or molecular genetic testing for BBS. ... At least 26 genes are known to be associated with BBS. Pathogenic variants in MKKS (see Genetically Related Disorders) account for an estimated 6.3% of all BBS (see BBS Overview). ... Table 3 illustrates the phenotypic overlap between MKS and BBS [Schaefer et al 2011] (+ = major feature; ± = minor feature). ... Cardiac malformation Echocardiogram Specialist referral as appropriate Possible Bardet- Biedl syndrome (BBS) 2 Assessment of height, weight, & head circumference & initiation of a carefully maintained growth chart to document obesity If obesity or short stature present, this may indicate a diagnosis of BBS Determination of developmental status by standard screening tools to detect DD If present, this may indicate a diagnosis of BBS.

MKKS, ADRB2, JAG1, BBS2, HSP90AA1, LEPR, MC5R, ST13, STUB1, MKS1
- Mckusick-Kaufman Syndrome OMIM
  
  Fluorescence in situ hybridization excluded large deletions of 20p12, and microsatellite marker studies confirmed biparental inheritance for all known BBS loci. Mapping Studying Amish individuals with what they called the hydrometrocolpos syndrome (HMCS) originally reported by McKusick et al. (1964), Stone et al. (1997, 1998) used homozygosity mapping to locate the gene for this disorder to 20p12, bounded by markers D20S894 and D20S175. ... However, uterine, ovarian, and fallopian tube anomalies were more common in BBS patients. Slavotinek and Biesecker (2000) concluded that sporadic cases of hydrometrocolpos and postaxial polydactyly in female patients cannot be diagnosed with MKKS until at least age 5 years and that monitoring for the complications of BBS should be performed in these patients. Schaefer et al. (2011) suggested that MKKS may be an extremely rare presentation of BBS (absence of retinal degeneration, obesity, and cognitive impairment) linked to rare specific allelic variants of the MKKS gene (possibly hypomorphic alleles) or a condition implying one or more other genes (as modifiers or major genes). ... Fath et al. (2005) suggested that the complete absence of the MKKS gene leads to BBS while the MKKS phenotype is likely to be due to specific mutations.
- Mckusick-Kaufman Syndrome MedlinePlus
  
  McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly ), heart defects, and genital abnormalities. Most females with McKusick-Kaufman syndrome are born with a genital abnormality called hydrometrocolpos, which is a large accumulation of fluid in the pelvis. Hydrometrocolpos results from a blockage of the vagina before birth, which can occur if part of the vagina fails to develop (vaginal agenesis) or if a membrane blocks the opening of the vagina. This blockage allows fluid to build up in the vagina and uterus, stretching these organs and leading to a fluid-filled mass.
- Mckusick-Kaufman Syndrome Orphanet
  
  McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.
- Mckusick–kaufman Syndrome Wikipedia
  
  McKusick–Kaufman syndrome McKusick–Kaufman syndrome is inherited in an autosomal recessive manner McKusick–Kaufman syndrome is a genetic condition associated with MKKS . The condition is named for Dr. Robert L. Kaufman and Victor McKusick . [1] It is sometimes known by the abbreviation MKS. [2] In infancy it can be difficult to distinguish between MKS and the related Bardet–Biedl syndrome , as the more severe symptoms of the latter condition rarely materialise before adulthood. [3] McKusick-Kaufman syndrome affects 1 in 10,000 people in the Old Order Amish population. Research has not identified cases outside of this population. [4] Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 See also 6 References 7 External links Presentation [ edit ] Clinically, McKusick–Kaufman syndrome is characterized by a combination of three features: postaxial polydactyly , heart defects, and genital abnormalities: Vaginal atresia with hydrometrocolpos Double vagina and/or uterus. Hypospadias , chordee (a downward-curving penis), and undescended testes ( cryptorchidism ). ureter stenosis or ureteric atresia Genetics [ edit ] MKS is inherited in an autosomal recessive dominance pattern. [5] Both parents of the affected must be heterozygous carriers of the pathogenic variant. Heterozygous carriers for MKS show no symptoms of the disorder, nor can they develop the disorder.
Bardet-Biedl Syndrome MedlinePlus

Cilia are also necessary for the perception of sensory input (such as sight, hearing, and smell). The proteins produced from BBS genes are involved in the maintenance and function of cilia. Mutations in BBS genes lead to problems with the structure and function of cilia. ... Another 20 percent of cases are caused by mutations in the BBS10 gene. The other BBS genes each account for only a small percentage of all cases of this condition. ... In affected individuals who have mutations in one of the BBS genes, mutations in additional genes may be involved in causing or modifying the course of the disorder. Studies suggest that these modifying genes may be known BBS genes or other genes. The additional genetic changes could help explain the variability in the signs and symptoms of Bardet-Biedl syndrome.

BBS1, CCDC28B, BBS10, MKKS, BBS9, BBS12, BBS5, TTC8, ARL6, CEP290, BBS4, BBS2, BBS7, MKS1, WDPCP, TRIM32, KIF7, TMEM67, ZDHHC24, EHD1
- Bardet-Biedl Syndrome 1 GARD
  
  Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body.
Laurence–moon Syndrome Wikipedia

Physical therapy aims at improving the strength and ability using assisting tools such as ankle-foot orthitic braces, weight-bearing walkers and regular exercise. [ citation needed ] Eponym and nomenclature [ edit ] It is named after the physicians John Zachariah Laurence and Robert Charles Moon who provided the first formal description of the condition in a paper published in 1866. [3] [4] In the past, LMS has also been referred to as Laurence–Moon–Bardet–Biedl or Laurence–Moon–Biedl–Bardet syndrome, but Bardet–Biedl syndrome (BBS) is now usually recognized as a separate entity. [5] Recent advances in genetic typing of the phenotypically -wide variation in patients clinically diagnosed with either Bardet-Biedl Syndrome (BBS) or Laurence-Moon Syndrome (LMS) have questioned whether LMS and BBS are genetically distinct. For example, a 1999 epidemiological study of BBS and LMS reported that "BBS proteins interact and are necessary for the development of many organs." "Two patients [in the study] were diagnosed clinically as LMS but both had mutations in a BBS gene. The features in this population do not support the notion that BBS and LMS are distinct." [6] A more recent 2005 paper also suggests that the two conditions are not distinct. [7] References [ edit ] ^ a b Farag, T.

PNPLA6
- Laurence-Moon Syndrome GARD
  
  Laurence-Moon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms vary but may include cerebellar ataxia ; eye abnormalities (primarily affecting the choroid and retina ); peripheral neuropathy; spastic paraplegia (progressive weakness and stiffness of the legs); intellectual disability; congenital (from birth) or childhood hypopituitarism ; and short stature. Laurence-Moon syndrome is caused by changes (mutations) in the PNPLA6 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. Until recently, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome but newer research determined that they are separate conditions.
- Laurence-Moon Syndrome OMIM
  
  Historically, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome (see BBS, 209900) (summary by Hufnagel et al., 2015). ... In a 22-year prospective cohort study of 46 patients from 26 Newfoundland families with BBS, Moore et al. (2005) found no apparent correlation of clinical or dysmorphic features with genotype. ... Moore et al. (2005) concluded that the features in this population did not support the notion that BBS and Laurence-Moon syndrome are distinct. ... They also noted that the retinal degeneration is distinct, with Laurence-Moon and Oliver-McFarlane syndromes resembling choroideremia, and BBS resembling cone-rod dystrophy or retinitis pigmentosa with choroidal sparing.
- Laurence-Moon Syndrome Orphanet
  
  A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.
Stature Quantitative Trait Locus 3 OMIM

Molecular Genetics Lorentzon et al. (2000) investigated the vitamin D receptor (VDR; 601769) gene polymorphisms, BsmI and TaqI, in 90 healthy Caucasian males. Boys with the BB genotype were shorter at birth (p = 0.01) and grew less from birth to age 16.9 +/- 0.3 (p = 0.01) than their Bb and bb counterparts. Both during puberty (age 16.9 +/- 0.3) and after puberty (age 19.3 +/- 0.7), the BB boys were shorter (p = 0.005 - 0.008).
Barber-Say Syndrome Orphanet

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia. Epidemiology BBS is a rare entity described in eleven patients to date. Clinical description BBS presents with congenital generalized hypertrichosis, facial dysmorphism (typically with bilateral ectropion, absent or sparse eyebrows and lashes, hypertelorism/telecanthus, broad nasal bridge, bulbous nose, anteverted nostrils, macrostomia, thin lips and misshapen ears), hyperlaxity and redundancy of the skin with deep folds, nipple hypoplasia and absence of mammary glands.

TWIST2, GP1BA, GP1BB, GP9, FGFR2, NLRP3, ADIPOQ, XYLT1, POLDIP2, RNF19A, AHSA1, GRAP2, C3, AIMP2, VWF, CASP1, MAPK1, IL1B, MAPK14, CRK, RYR1
- Barber-Say Syndrome OMIM
  
  A number sign (#) is used with this entry because of evidence that Barber-Say syndrome (BBRSAY) is caused by heterozygous mutation in the TWIST2 gene (607556) on chromosome 2q37. Description Barber-Say syndrome is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by Roche et al., 2010). Clinical Features Barber et al. (1982) described a patient with a previously unreported pattern of multiple congenital anomalies consisting of macrostomia, ectropion, atrophic skin, marked hypertrichosis, and growth retardation. Cesarino et al. (1988) described a male infant with bilateral lid agenesis and total keratinization of the cornea and conjunctiva with macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, and other findings. They considered this patient's disorder to be distinct from the ablepharon-macrostomia syndrome (AMS; 200110) and proposed the designation 'lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis syndrome.'
- Barber Say Syndrome GARD
  
  Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids ( ectropion ) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene.
- Barber–say Syndrome Wikipedia
  
  Barber Say syndrome Other names Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome Barber-Say syndrome has an autosomal dominant pattern of inheritance Usual onset Neonatal Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth ( hypertrichosis ), fragile ( atrophic ) skin, eyelid deformities ( ectropion ), and an overly broad mouth ( macrostomia ). [1] Barber-Say syndrome is phenotypically similar to Ablepharon macrostomia syndrome , which is also associated with dominant mutations in TWIST2 . [2] Contents 1 Signs and symptoms 2 Genetics 3 Epidemiology 4 References 5 External links Signs and symptoms [ edit ] Severe hypertrichosis, especially of the back Skin abnormalities, including hyperlaxity and redundancy Facial dysmorphism, including macrostomia Eyelid deformities, including ectropion Ocular telecanthus Abnormal and low-set ears Bulbous nasal tip with hypoplastic alae nasi Low frontal hairline Genetics [ edit ] Multiple cases of parent-to-child transmission suggest that Barber-Say syndrome exhibits autosomal dominant inheritance. [3] Exome sequencing and expression studies have shown that BSS is caused by mutations in the TWIST2 gene that affect a highly conserved residue of TWIST2 (twist-related protein 2). TWIST2 is a basic helix-loop-helix transcription factor that binds to E-box DNA motifs (5'-CANNTG-3') as a heterodimer and inhibits transcriptional activation. [4] Because TWIST2 mediates mesenchymal stem cell differentiation [5] and prevents premature or ectopic osteoblast differentiation, [6] mutations in TWIST2 that disrupt these functions by altering DNA-binding activity could explain many of the phenotypes of BSS. [2] Epidemiology [ edit ] The prevalence of Barber Say syndrome is less than 1 in 1,000,000. [7] As of 2017, only 15 cases have been reported in the literature. [8] References [ edit ] ^ "Barber Say syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . Retrieved 2019-01-21 . ^ a b Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, et al. (July 2015). "Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes" . American Journal of Human Genetics . 97 (1): 99–110. doi : 10.1016/j.ajhg.2015.05.017 .
Bogart–bacall Syndrome Wikipedia

Individuals who speak or sing outside of their normal range can develop BBS over a long period of misuse. Individuals who develop this syndrome tend to speak or perform with poor breath support and laryngeal muscle tension. ... Teachers may also be susceptible to BBS depending on their volume and how much they talk on a regular basis. ... Women are more likely than men to develop BBS due to the tendency of lowering their voices in a professional environment. ... ISBN 9780810887923 . ^ "RightDiagnosis: BBS Symptoms" . Retrieved 2011-09-03 . ^ Rubin, John S.; Sataloff, Robert T.; Korovin, Gwen S. (2014). ... Retrieved 2011-09-03 . ^ "RightDiagnosis: BBS Treatment" . Retrieved 2011-09-03 . ^ Gordon, Kate; Reed, Ona.
Shot Hole Disease Wikipedia

Cherry leaves with a mild shot hole disease infection Shot hole disease (also called Coryneum blight ) is a serious fungal disease that creates BB -sized holes in leaves, rough areas on fruit, and concentric lesions on branches. The pathogen that causes shot hole disease is Wilsonomyces carpophilus . [1] Contents 1 Hosts and symptoms 2 Disease cycle 3 Management 4 Importance 5 References Hosts and symptoms [ edit ] Peach tree leaves displaying various stages of the shot hole disease: brown spots on the leaf with conidium holders in the middle (center) that eventually fall off, leaving BB-sized holes behind (left) Shot hole disease of apricot leaves The fungal pathogen Wilsonomyces carpophilus affects members of the Prunus genera. ... As the disease progresses the damaged areas become slightly larger and then dry up and fall away, leaving BB-sized holes behind. As the fungus spreads, more leaf tissue is damaged until the leaf falls.
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly OMIM

Because mutation in a Bardet-Biedl syndrome (BBS; see 209900)-related gene was found, the patient was investigated for ocular, renal, and pelvic abnormalities; none of these was found (see MOLECULAR GENETICS). ... Because the WDPCP gene is mutated in BBS, Saari et al. (2015) referred their patient for a screen for ocular abnormalities. At age 3 years there were no signs of retinal degeneration, symptoms of nyctalopia, or peripheral vision loss. However, BBS-related retinal dystrophy typically occurs later than age 3 years.

WDPCP
- Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome Orphanet
  
  A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.
Vaginal Atresia Wikipedia

Abnormal androgen production is also induced, eventually leading to hyperandrogenism and Müllerian aplasia. [7] Bardet-Biedl Syndrome [ edit ] Bardet-Biedl syndrome (BBS) is a cliopathic human genetic disorder that can affect various parts of the body. Parts of the urogenital system where the effects of BBS are seen include: ectopic urethra , kidney failure , uterus duplex , hypogonadism , septate vagina , and hypoplasia of the fallopian tubes , uterus , ovaries . [8] Some of the common characteristics associated with this syndrome include intellectual disorders, loss of vision, kidney problems, and obesity. [2] [9] [10] The mechanism that causes BBS is still remains unclear. Mutations in more than 20 genes can cause BBS and is an inherited recessive condition. Some of the gene mutations that occur in BBS are listed below: BBS1 , BBS2 , ARL6 (BBS3) , BBS4 , BBS5 , MKKS (BBS6) , BBS7 , TTC8 (BBS8) , BBS9 , BBS10 , TRIM32 (BBS11) , BBS12 , MKS1 (BBS13) , CEP290 (BBS14) , WDPCP (BBS15) , SDCCAG8 (BBS16) , LZTFL1 (BBS17) , BBIP1 (BBS18) , IFT27 (BBS19) , IFT72 (BBS20) , and C8ORF37(BBS21 ) [11] The majority of the genes that are related to BBS encode proteins which are called cilia and basal bodies, which are related structures. [11] Fraser Syndrome [ edit ] Fraser syndrome is a disorder that affects the development of the child prior to birth.

BBS1, FGFR2, GATA3, POR, WNT3, WT1, MKKS, ITGA8, GRIP1, DYNC2LI1, CCDC28B, FRAS1, RSPO2, FREM2, TBX6, TYRO3
Catecholaminergic Polymorphic Ventricular Tachycardia Orphanet

Management and treatment Lifestyle changes such as limitation of physical activity, avoidance of strong emotion and stressful environments should be recommended to all CPVT patients. Beta blockers (BB; particularly nadolol) are the first treatment option for patients with CPVT and the maximum tolerated dose should be administered to control arrhythmias. Flecainide, a sodium channel blocker, can be considered in patients with BB-resistant arrhythmias. Implantable cardioverter defibrillator (ICD) is recommended in CPVT patients who survived a cardiac arrest, and in those experiencing recurrent syncope or breakthrough arrhythmias despite compliance to an optimal medical treatment.

RYR2, TRDN, CALM1, CASQ2, TECRL, KCNJ2, CALM2, CALM3, ANK2, KCNE1, FKBP1B, TRDN-AS1, KCNQ1, SCN5A, KCNH2, ARVD3, SNAP91, THEM5, CAVIN1, ASPH, CAMKMT, CACNA1S, KCNE2, FXN, AIP, SCN10A, KRIT1, RYR1, CNTN3, CTRL, PICALM
- Catecholaminergic Polymorphic Ventricular Tachycardia GeneReviews
  
  Summary Clinical characteristics. Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion in individuals without structural cardiac abnormalities. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias self-terminate. In other instances, ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death if cardiopulmonary resuscitation is not readily available. The mean age of onset of symptoms (usually a syncopal episode) is between age seven and twelve years; onset as late as the fourth decade of life has been reported.
- Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy OMIM
  
  A number sign (#) is used with this entry because catecholaminergic polymorphic ventricular tachycardia-1 (CPVT1) is caused by heterozygous mutation in the cardiac ryanodine receptor gene (RYR2; 180902) on chromosome 1q43. Description Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disorder of the heart characterized by a reproducible form of polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion, which can deteriorate into ventricular fibrillation. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. Typically, clinical cardiologic examinations, such as baseline ECG and echocardiogram, reveal mostly normal findings, and postmortem examinations, when carried out, have not disclosed any significant morphologic alterations in the fine structure of the heart, with the exception of mild fatty myocardial infiltration in a few patients. The hallmark of CPVT comprises ventricular arrhythmias of varying morphology not present under resting conditions but appearing only with physical exercise, excitement, or catecholamine administration.
- Catecholaminergic Polymorphic Ventricular Tachycardia GARD
  
  Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age. If untreated CPVT can cause a heart attack and death. CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion.
- Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 OMIM
  
  A number sign (#) is used with this entry because catecholaminergic polymorphic ventricular tachycardia-2 (CPVT2) is caused by homozygous or compound heterozygous mutation in the gene encoding calsequestrin-2 (CASQ2; 114251) on chromosome 1p13. For a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see 604772. Clinical Features Lahat et al. (2001) studied 41 members of 7 families from a highly inbred Bedouin tribe in northern Israel in which 9 children had unexplained sudden death, 7 during vigorous exercise and 2 during excitement. In addition, 12 other children had onset of recurrent syncope and seizures at around 6 years of age, with 70% of the episodes occurring during vigorous physical activity and 30% following sudden excitement. The parents of affected children were all related and were all asymptomatic.
- Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 OMIM
  
  A number sign (#) is used with this entry because of evidence that catecholaminergic polymorphic ventricular tachycardia-4 (CPVT4) is caused by heterozygous mutation in the calmodulin gene (CALM1; 114180) on chromosome 14q32. For a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see 604772. Clinical Features Nyegaard et al. (2012) studied a large 4-generation Swedish family with a history of ventricular arrhythmias, syncope, and sudden death, predominantly in association with physical exercise or stress. The proband was a 42-year-old man who first developed syncope at 12 years of age while playing football; electrocardiogram (ECG) at that time showed bradycardia with a prominent U-wave in leads V2 and V3, without evidence of QT prolongation. He had a history of loss of consciousness on at least 4 occasions during physical activity and once in connection with a fire alarm.
- Catecholaminergic Polymorphic Ventricular Tachycardia MedlinePlus
  
  Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood. If CPVT is not recognized and treated, an episode of ventricular tachycardia may cause the heart to stop beating (cardiac arrest), leading to sudden death. Researchers suspect that CPVT may be a significant cause of sudden death in children and young adults without recognized heart abnormalities.
- Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 OMIM
  
  A number sign (#) is used with this entry because of evidence that catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is caused by homozygous mutation in the TECRL gene (617242) on chromosome 4q13. Description Catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is characterized by overlapping features of long QT syndrome (see 192500) and CPVT. Affected individuals exhibit adrenergic ventricular tachycardia associated with a high prevalence of cardiac arrest and sudden cardiac death, with recurrent atrial tachycardia sometimes triggering the ventricular arrhythmias. In addition, affected individuals have a normal or mildly prolonged QTc on baseline electrocardiography, with a paradoxical QT increase during adrenergic simulation (summary by Devalla et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see 604772.
- Catecholaminergic Polymorphic Ventricular Tachycardia Wikipedia
  
  "CPVT" redirects here. For the photovoltaics technology, see Concentrated photovoltaics and thermal . Catecholaminergic polymorphic ventricular tachycardia Other names CPVT Bidirectional ventricular tachycardia in a patient with CPVT Specialty Cardiology Symptoms Blackouts , sudden cardiac death [1] Usual onset Childhood / adolescence Causes Genetic Risk factors Family history Diagnostic method Electrocardiogram (ECG), genetic testing , adrenaline provocation, exercise testing [1] Differential diagnosis Long QT syndrome , Brugada syndrome , Andersen-Tawil syndrome , Early repolarization syndrome Treatment Avoidance of strenuous exercise, medication, implantable cardioverter defibrillator [2] Medication Beta-adrenoceptor blockers , Verapamil , Flecainide [2] Prognosis 13–20% life threatening arrhythmias over 7–8 years [3] Frequency 1:10,000 [4] Catecholaminergic polymorphic ventricular tachycardia ( CPVT ) is an inherited genetic disorder that predisposes those affected to potentially life-threatening abnormal heart rhythms or arrhythmias . The arrhythmias seen in CPVT typically occur during exercise or at times of emotional stress, and classically take the form of bidirectional ventricular tachycardia or ventricular fibrillation . Those affected may be asymptomatic, but they may also experience blackouts or even sudden cardiac death . CPVT is caused by genetic mutations affecting proteins that regulate the concentrations of calcium within cardiac muscle cells .
- Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, With Or Without Muscle Weakness OMIM
  
  A number sign (#) is used with this entry because of evidence that catecholaminergic polymorphic ventricular tachycardia-5 with or without muscle weakness (CPVT5) is caused by homozygous or compound heterozygous mutation in the triadin gene (TRDN; 603283) on chromosome 6q22. For a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see 604772. Clinical Features Roux-Buisson et al. (2012) studied 2 families with cardiac arrhythmias. In the first family, which originated from the French West Indies, the 2-year-old proband experienced syncope followed by cardiac arrest after a shock while playing with his 7-year-old brother. Resting electrocardiogram (ECG) after resuscitation showed numerous polymorphic or bidirectional ventricular extra beats and runs of polymorphic ventricular tachycardia.
Leprosy Orphanet

Borderline forms exist: borderline tuberculoid, borderline borderline and borderline lepromatous (BT, BB, BL). Tuberculoid leprosy (TLep) or paucibacillary form includes TT and BT and lepromatous leprosy (LLep) or multibacillary form includes LL, BL and BB.

CCDC88B, SLC11A1, TLR2, TLR1, IL23R, RAB32, BATF3, LTA, HLA-DRB1, LACC1, CCDC122, TNFSF15, C1orf141, HLA-B, PRKN, TNF, RIPK2, SIGLEC5, IL18R1, IL10, IL1RL1, LINC02571, DELEC1, FILIP1, BBS9, COX4I1, CDH18, SLC2A13, RMI2, SNX20, LINC01091, WASF5P, UBE2V1P15, LINC00690, IFNG, NOD2, VDR, LRRK2, SDHD, PACRG, IL6, MBL2, RBM45, TLR4, MICA, ERBB2, IL4, IL12B, BTNL2, HLA-A, HSPD1, HLA-DQA1, IL2, GEM, S100A6, DDX39A, SLC26A3, MRC1, NGF, CFP, CCL4, CFH, DDX39B, TOLLIP, TGFBR2, KIR3DL1, CTLA4, IL17F, SLC7A9, IL2RA, HSD11B2, APOE, IL1B, IL10RB, CXCL10, IL17A, IL12RB2, BCHE, CD209, ACTG2, IL22, CCR2, TOR1B, FOXP3, NT5C3A, POTEM, CD274, IL37, CYP2E1, PARL, CYP19A1, ACAD8, RNU1-1, NUPR1, H3C9P, SPAG8, PTPN22, NLRP1, ACOT7, ACTG1, POTEKP, EMC3, CR1, ADGB, PWAR1, CASP8, APOA1, STING1, CD14, TNFSF8, CD40, IRGM, TIRAP, CD40LG, DEFB1, ACTBL2, IL26, GAL3ST4, SLC52A2, PINK1, CCR5, ANXA2, ZNF410, HAMP, MAVS, AKR1B10, ANXA1, FMNL1, HLA-DQB1, SOCS1, MASP2, MFN2, PCK1, HIF1A, PAEP, NOS2, NFKBIL1, MPZ, MNAT1, MICB, CIITA, LTB, LGALS3, LDLR, KIR3DL2, KIR2DS1, KDR, ISG20, IL15, IL13RA1, IL13, IL10RA, HLA-C, CXCR2, IL5RA, IL1RN, IL1A, IGF1, HSPE1, POLG, PREP, RNU1-4, FLNA, BMS1, FHL5, IL32, MAP3K14, BCL10, NR1I2, F2R, FCN1, FCN2, HLA-DRB4, FCN3, VEGFA, TOP2A, S100A1, CXCR3, GSTM1, TGFBR1, TGFB1, TFAM, TAP1, STAT3, SOD2, SLAMF1, ACACA, CCL3, S100B, SERPINA3
- Leprosy, Susceptibility To, 1 OMIM
  
  LPRS1 is a locus for susceptibility to paucibacillary leprosy on chromosome 10p13. In addition to information on LPRS1 (see MAPPING), this entry includes a discussion of susceptibility to leprosy in general and information on genetic heterogeneity (see HETEROGENEITY). Description Leprosy is a disease of peripheral sensory nerves that results from infection with Mycobacterium leprae, which was first detected in Bergen, Norway, in 1873 by Dr. Armauer Hansen. It can be effectively treated with long-term multidrug therapy. In 2006, more than 250,000 new cases of leprosy were reported to the World Health Organization.
- Leprosy, Susceptibility To, 5 OMIM
  
  A number sign (#) is used with this entry because this form of susceptibility to leprosy (LPRS5) is associated with a polymorphism in the TLR1 gene (601194). A polymorphism in the TLR1 gene is also associated with protection against leprosy. See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping LPRS5 is associated with a polymorphism in the TLR1 gene, which Taguchi et al. (1996) mapped to chromosome 4p14. Molecular Genetics Schuring et al. (2009) studied association of an asn248-to-ser (N248S; 601194.0002) SNP in the TLR1 gene and leprosy in a Bangladeshi population consisting of 842 patients and 543 controls.
- Leprosy, Susceptibility To, 2 OMIM
  
  See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping In a study in a Vietnamese population, Mira et al. (2003) found significant evidence for a susceptibility gene for leprosy on chromosome region 6q25; maximum likelihood binomial (MLB) lod score was 4.31. They confirmed this by family-based association analysis in an independent panel of 208 Vietnamese leprosy simplex families (i.e., families with 2 unaffected parents and 1 affected child). Mira et al. (2003) confirmed the linkage of paucibacillary leprosy to 10p13 (LPRS1; 609888), as reported by Siddiqui et al. (2001). Their evidence suggested that the 6q25 locus is involved in leprosy of both the paucibacillary and multibacillary types.
- Leprosy, Susceptibility To, 3 OMIM
  
  A number sign (#) is used with this entry because this form of susceptibility to leprosy (LPRS3) is associated with a polymorphism in the TLR2 gene (603028) on chromosome 4q32. See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping LPRS3 is associated with a polymorphism in the TLR2 gene, which Rock et al. (1998) mapped to chromosome 4q32. Molecular Genetics Kang and Chae (2001) identified an arg677-to-trp polymorphism (R677W; 603028.0001) in the intracellular domain of TLR2 in 10 (22%) of 45 Korean lepromatous leprosy patients, but not in any of 41 Korean tuberculoid patients or 45 Korean controls. They concluded that the R677W polymorphism in TLR2 has a role in susceptibility to lepromatous leprosy.
- Leprosy, Susceptibility To, 6 OMIM
  
  See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping Zhang et al. (2009) performed a genomewide association study to identify leprosy susceptibility loci in 706 patients and 1,225 controls, all of whom were self-identified Han Chinese from eastern China. Diagnosis was made on the basis of the consensus of at least 2 dermatologists. Patients and controls reported an absence of M. tuberculosis and other chronic infections. Controls lacked a history of leprosy in themselves and their families, as well as autoimmune and systemic disorders.
- Leprosy Wikipedia
  
  This type of leprosy is most benign. [69] [70] Positive Multibacillary midborderline or borderline ("BB") A30.3 Borderline Borderline leprosy is of intermediate severity and is the most common form.
- Leprosy, Susceptibility To, 4 OMIM
  
  A number sign (#) is used with this entry because susceptibility to early-onset leprosy is associated with a polymorphism in the LTA gene (153440) on chromosome 6p21.3. This polymorphism accounts, in part, for susceptibility to leprosy linked to chromosome 6p21.3 (LPRS4). However, additional genetic risk factors likely underlie susceptibility to leprosy linked to chromosome 6p21.3. See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping Mira et al. (2003) detected a linkage peak associated with leprosy in the 6p21 chromosomal region, which fine mapping placed close to D6S2427 (lod = 2.7).
- Hansen's Disease GARD
  
  Hansen's disease (also known as leprosy) is a rare bacterial infection that affects the skin, nerves and mucous membranes . After exposure, it may take anywhere from 2 to 10 years to develop features of the condition. Once present, common signs and symptoms include skin lesions ; muscle weakness or paralysis; eye problems that may lead to blindness; nosebleeds; severe pain; and/or numbness in the hands, feet, arms and legs. Hansen's disease is caused by the bacterium Mycobacterium leprae; however, the way in which the bacterium is transmitted (spread) is poorly understood. It appears that only about 5% of people are susceptible to the condition.
Senior-Loken Syndrome Orphanet

Differential diagnosis SLS presents genetic and clinical overlap with other ciliopathies, in particular with isolated NPH and Joubert syndrome related diseases (JSRD) such as Joubert syndrome with oculorenal defect, Bardet-Biedl syndrome (BBS) and Alström syndrome. Physical examination should consider the presence of the main clinical signs of JSRD (hypotonia, ataxia and breathing abnormalities in infants) and BBS (polydactyly and obesity).

IQCB1, NPHP1, CEP290, NPHP4, WDR19, NPHP3, SDCCAG8, CEP164, INVS, SCLT1, TRAF3IP1, POC1B, TMEM218, RPGRIP1L, DNAJC13, INF2, UMOD, HNF1B, RPGR, ALDH3A2
- Senior-Loken Syndrome 7 OMIM
  
  A number sign (#) is used with this entry because Senior-Loken syndrome 7 (SLSN7), a ciliopathy, is caused by homozygous mutation in the SDCCAG8 gene (613524) on chromosome 1q43. Mutations in SDCCAG8 can also result in Bardet-Biedl syndrome-16 (BBS16; 615993). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. Molecular Genetics Otto et al. (2010) used homozygosity mapping followed by exon capture and massively parallel sequencing to identify a homozygous truncating mutation in the SDCCAG8 gene (613524.0001) in 2 sibs with Senior-Loken syndrome-7, who were born of consanguineous parents from Reunion Island. Both patients had biopsy-confirmed nephronophthisis and retinal degeneration, leading to blindness in 1.
- Senior-Loken Syndrome 4 OMIM
  
  A number sign (#) is used with this entry because of evidence that Senior-Loken syndrome-4 (SLSN4) is caused by homozygous mutation in the NPHP4 gene (607215) on chromosome 1p36. Mutations in the NPHP4 gene can also cause nephronophthisis-4 (606966). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. Clinical Features Schuermann et al. (2002) reported a family (F3) in which 3 individuals were affected with late-onset retinitis pigmentosa in addition to nephronophthisis, an association described as Senior-Loken syndrome. Mapping In family F3 reported by Schuermann et al. (2002), haplotype analysis of 8 markers at the nephronophthisis-4 locus was compatible with homozygosity by descent in all 3 affected children.
- Senior-Loken Syndrome 5 OMIM
  
  A number sign (#) is used with this entry because Senior-Loken syndrome-5 (SLSN5) is caused by homozygous or compound heterozygous mutation in the IQCB1 gene (609237) on chromosome 3q13. For a general phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. Description Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (LCA; see 204000). Mapping Otto et al. (2005) identified a cohort of unrelated individuals with nephronophthisis, 435 with isolated kidney involvement and 92 with SLSN. In this cohort, recessive mutations in NPHP1 (607100), NPHP2 (INVS; 243305), NPHP3 (608002), or NPHP4 (607215) had been detected in 151 of 435 individuals with NPHP (35%) and in 19 of 92 individuals with SLSN (21%).
- Senior-Loken Syndrome 8 OMIM
  
  A number sign (#) is used with this entry because of evidence that Senior-Loken syndrome-8 (SLSN8) is caused by homozygous or compound heterozygous mutation in the WDR19 gene (608151) on chromosome 4p14. For a general phenotypic description and discussion of genetic heterogeneity of Senior-Loken syndrome, see SLSN1 (266900). Clinical Features Coussa et al. (2013) studied a consanguineous French Canadian family with an atypical form of retinitis pigmentosa (RP) as well as renal cysts. The 50-year-old male proband had bilateral visual acuities of hand motion only, with severe constriction of visual fields (5 degrees); electroretinographic responses were undetectable. Fundus examination showed fine bone spicules in the periphery and severely attenuated vessels in both eyes, with slight temporal pallor of the optic discs.
- Senior Loken Syndrome GARD
  
  Senior Loken syndrome (SLS) is a rare syndrome that mainly affects the kidneys and eyes. SLS causes a cystic kidney disease called nephronophthisis , which usually begins in early childhood. The kidneys develop cysts, inflammation, and scarring, which progressively impair kidney function. Symptoms of nephronophthisis may include increased production of urine, excessive thirst, weakness, and severe fatigue. Nephronophthisis typically leads to end-stage kidney disease by adolescence.
- Senior-Loken Syndrome 6 OMIM
  
  A number sign (#) is used with this entry because of evidence that Senior-Loken syndrome-6 (SLSN6) is caused by homozygous mutation in the NPHP6 gene (CEP290; 610142) on chromosome 12q21. Mutations in the CEP290 gene can also cause Joubert syndrome-5 (610188). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. Clinical Features Sayer et al. (2006) described a Turkish family in which 2 sibs with Senior-Loken syndrome reached end-stage renal disease at 11 and 13 years of age, respectively. Both had tapetoretinal degeneration resulting in reduced vision before 3 years of age.
- Senior-Loken Syndrome 3 OMIM
  
  For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. Mapping Omran et al. (2002) studied a kindred of German ancestry with extended consanguinity and typical findings of SLSN. They identified a locus for SLSN in the region of the nephronophthisis-3 locus on chromosome 3q21-q22 (NPHP3; 604387). Haplotype studies showed a result compatible with homozygosity by descent in all affected individuals, covering the whole NPHP3 region. Linkage analysis yielded a parametric maximum multipoint lod score of 3.14.
- Senior-Loken Syndrome 9 OMIM
  
  A number sign (#) is used with this entry because of evidence that Senior-Loken syndrome-9 (SLSN9) is caused by homozygous or compound heterozygous mutation in the TRAF3IP1 gene (607380) on chromosome 2q37. Description Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by Bizet et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. Clinical Features Bizet et al. (2015) reported 8 patients from 5 families with nephronophthisis associated with retinal dystrophy, consistent with a diagnosis of Senior-Loken syndrome.
- Senior-Loken Syndrome 1 OMIM
  
  A number sign (#) is used with this entry because of evidence that Senior-Loken syndrome-1 (SLSN1) is caused by homozygous mutation in the NPHP1 gene (607100) on chromosome 2q13. Description Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (see 204000). Mutations in some of the same genes that cause nephronophthisis (see 256100) cause Senior-Loken syndrome. Genetic Heterogeneity of Senior-Loken Syndrome Other forms of SLSN include SLSN4 (606996), caused by mutation in the NPHP4 gene (607215) on chromosome 1p36; SLSN5 (609254), caused by mutation in the NPHP5 gene (IQCB1; 609237) on chromosome 3q13; SLSN6 (610189), caused by mutation in the NPHP6 gene (CEP290; 610142) on chromosome 12q21; SLSN7 (613615), caused by mutation in the SDCCAG8 gene (613524) on chromosome 1q43; SLSN8 (616307), caused by mutation in the WDR19 gene (608151) on chromosome 4p14; and SLSN9 (616629), caused by mutation in the TRAF3IP1 gene (607380) on chromosome 2q37. Another form of SLSN, SLSN3 (606995), has been mapped to a locus on chromosome 3q22, overlapping the NPHP3 locus (604387).
- Nephronophthisis 15 OMIM
  
  A number sign (#) is used with this entry because nephronophthisis-15 (NPHP15) is caused by homozygous or compound heterozygous mutation in the CEP164 gene (614848) on chromosome 11q23. For a general phenotypic description and a discussion of genetic heterogeneity of NPHP, see NPHP1 (256100). Clinical Features Chaki et al. (2012) reported a Saudi child, born of consanguineous parents, with a variant of nephronophthisis characterized by Leber congenital amaurosis and retinal degeneration resulting in blindness by age 2 years. Affected individuals in 3 additional families were later identified. In 1 family, 2 patients had NPHP at ages 8 and 9 years, respectively, and all had some degree of retinal degeneration, with 1 child being legally blind at age 5 months. One of the children also had seizures and developmental delay. In another family, a severely affected child had NPHP by age 8 years, retinal degeneration, flat electroretinogram, cerebellar vermis hypoplasia, facial dysmorphism, polydactyly, abnormal liver function tests, bronchiectasis, and obesity.
- Senior–løken Syndrome Wikipedia
  
  Congenital eye disorder Senior–Løken syndrome Other names Renal dysplasia-retinal aplasia syndrome Senior–Løken syndrome is an autosomal recessive inherited condition Specialty Medical genetics Senior–Løken syndrome is a congenital eye disorder, first characterized in 1961. [1] [2] [3] It is a rare, ciliopathic , autosomal recessive disorder characterized by juvenile nephronophthis and progressive eye disease . [4] Contents 1 Genetics 2 Pathophysiology 2.1 Relation to other rare genetic disorders 3 Diagnosis 4 Treatment 5 References 6 External links Genetics [ edit ] Genes involved include: Type OMIM Genes SLSN1 266900 NPHP1 SLSN3 606995 unknown SLSN4 606996 NPHP4 SLSN5 609254 NPHP5/ IQCB1 [5] SLSN6 610189 NPHP6/ CEP290 SLSN7 613615 SDCCAG8 Pathophysiology [ edit ] The cause of Senior–Løken syndrome type 5 has been identified to mutation in the NPHP1 gene which adversely affects the protein formation mechanism of the cilia . [6] Relation to other rare genetic disorders [ edit ] Recent findings in genetic research have suggested that a large number of genetic disorders , both genetic syndromes and genetic diseases , that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely varying, phenotypically -observed disorders . Such diseases are becoming known as ciliopathies . Known ciliopathies include primary ciliary dyskinesia , Bardet–Biedl syndrome , polycystic kidney and liver disease , nephronophthisis , Alström syndrome , Meckel–Gruber syndrome and some forms of retinal degeneration . [4] Diagnosis [ edit ] This section is empty. You can help by adding to it . ( August 2017 ) Treatment [ edit ] This section is empty. You can help by adding to it . ( August 2017 ) References [ edit ] ^ synd/1861 at Who Named It? ^ Senior B, Friedmann AI, Brando JL (1961). "Juvenile familial nephropathy with tapetoretinal degeneration.
Retinitis Pigmentosa 71 OMIM

Clinical Variability Bujakowska et al. (2015) reported 2 sisters, 15 and 22 years of age, with RP as well as systemic features suggesting a Bardet-Biedl-like ciliopathy (BBS; see 209900). Both were obese and had a history of delayed speech development and elevated liver transaminases. ... Molecular Genetics In 2 sisters with RP and obesity, who were negative for mutation in 12 BBS-associated genes, Bujakowska et al. (2015) performed whole-exome sequencing (WES) and identified compound heterozygosity for a missense mutation (H1567Q; 607386.0013) and a splice site mutation (607386.0014) in the IFT172 gene.

C8orf37, PDE6B, PDE6A, CRX, RPGR, RPE65, PDE6G, LRAT, ABCA4, EYS, MERTK, IMPDH1, ROM1, RHO, USH2A, CRB1, CNGB1, RPGRIP1, GUCY2D, RP2, NRL, RBP3, CLRN1, RDH12, SAG, SPATA7, CNGA1, ARL6, AIPL1, REEP6, RGR, DHX38, GUCA1B, OFD1, IDH3A, IDH3B, PRPF8, RP1, FAM161A, TULP1, SNRNP200, PRPF31, CERKL, NR2E3, CA4, MAK, PRCD, PRPF3, RLBP1, PROM1, PCARE, CHM, ARL2BP, TOPORS, BBS1, CYP4V2, BEST1, DHDDS, KLHL7, IMPG2, HGSNAT, IFT140, PRPF6, BBS2, TTC8, AHI1, SCAPER, CLN3, IFT172, CDHR1, KIZ, FLVCR1, TTPA, ARL3, PRPF4, AGBL5, RP9, SLC7A14, FSCN2, POMGNT1, ZNF513, ZNF408, RBP4, ABHD12, UNC119, NEK2, AHR, TUB, SEMA4A, ATF6, IFT88, FOXI2, UBAP1L, CCZ1B, CROCC, PDAP1, FAM71A, KIAA1549, IRX5, ARHGEF18, C1QTNF5, PRTFDC1, SLC37A3, NAALADL1, CRB2, NGF, CEP250, CWC27, CCDC66, GRIN2B, PRPH2, AGTPBP1, SLC6A6, AIFM1, FGFR2, KL, MT2A, PTEN, MYO7A, CEP290, GUCA1A, RDH5, CDH23, IQCB1, MSTO1, CACNA1A, BBS4, ATXN7, USH1C, CFAP410, ATP6, PANK2, MKKS, BBS9, SLC24A1, PEX1, RP1L1, HADHA, PNPLA6, SDCCAG8, BBS12, NDUFAF5, RRM2B, PDHA1, NDUFS8, NDUFV2, LZTFL1, FOXRED1, POMT2, RCBTB1, TST, FKRP, BBS7, CNGB3, NCAPG2, NPHP1, MKS1, NDUFB11, SURF1, SDHB, PEX2, WDPCP, PRPH, NDUFV1, NDUFA13, SCN1A, SCO1, SDHA, SDHD, PHYH, TACO1, LIPT1, SLC19A1, NDUFA12, PEX5, NGLY1, ALMS1, LARGE1, NDUFS4, PRDX1, NDUFS3, POLR3A, MFSD8, ZDHHC24, RNASEH1, CTNS, ARL13B, TRIM32, NIPAL1, ECHS1, FASTKD2, ERCC3, POMT1, ERCC6, ERG, IFT27, NDUFAF6, BBS5, NDUFS2, CLRN1-AS1, COX20, CYGB, COX15, COX10, COX8A, COX7B, CDH23-AS1, ACOX1, C8orf37-AS1, MMACHC, JAG1, AMACR, AIRE, PET100, SDHAF1, ZFYVE26, PHF3, ATP1A2, BCS1L, NDUFS7, CAV1, TTLL5, VSX2, ERCC8, COX6B1, PRRT2, MTFMT, GSS, COL18A1, GMPPB, HADHB, ND1, ND2, ND3, ND4, ND5, ND6, TRNK, TRNL1, TRNN, TRNS1, TRNV, TRNW, TRIM37, BBS10, NDUFA2, NDUFA4, NDUFA9, NDUFA10, NDUFS1, SLC19A3, WFS1, BBIP1, COA8, HCCS, NDUFAF2, HADH, TMEM14B, COX14, PLXNA2, LSM2, TRNT1, CLU, MFRP, PCDH15, DHX16, PTPRC, SLU7, KLK3, SIGMAR1, NXNL1, CLTA, CNTF, NT5C2, RPE, PROS1, PLAG1, NPHP4, TIMP3, PSAT1, NPEPPS, MYP2, CXCR6, RIMS1, RRH, SLC19A2, EXOSC2, ADIPOR1, LPAR2, USP9X, COG4, VCP, EDN1, LCA5, PDC, ATN1, OTX2, OTC, CNOT3, MVK, LPCAT1, MMP9, EDNRA, RCC1, EPO, INS, FANCF, HSPA4, HK1, GNAT1, HIF1A, OPN4, GSN, SERPINF1, GPR42, NSMCE3, GRK1, ALDH3A2, SFRP2, ACKR3, ADRA1A, ARL2, ATXN2, CC2D2A, ADRA2B, WDR19, SOD3, PLIN2, SSTR4, BRS3, STC1, ACTB, NRG4, TWIST2, GRK7, POC5, ARMS2, MFT2, SAMD11, SAMD7, NOC2L, JAKMIP1, MIR204, POLDIP2, GUCY2EP, LIN28B, NPHP3, ARSI, RD3, CENPV, PITPNM3, INVS, CENPK, TENT5A, CYCS, DCUN1D1, TWNK, SLC2A4RG, TBX20, RDH11, PNPLA2, KIDINS220, NGB, MPP4, NYX, TNMD, ENFL2, TUT1, DNER, FTO, ELOVL6, ALG12, RNF19A, COQ8B, SETD2, KLF15, PDZD7, HKDC1, C5AR2, DNAJC17, ADGRV1, CEP78, GNPTG, AAVS1, THBS2, WHRN, MMP2, HMOX1, HK2, HGF, GRM5, GRM1, GRB10, GLO1, GK, GJB2, GDNF, GDF2, G6PD, FRZB, FN1, FGF5, FGF2, FBN2, HSP90AA1, IDH2, IFNG, INSR, MEIS2, MDH1, MAP1A, SMAD4, LTB, LAMP1, ISG20, ING1, IGF1, IMPA1, CXCL8, IL6, IL2RA, IL1B, IL1A, CCN1, FASN, ETV5, ERN1, ALDH7A1, CACNA1F, C5AR1, C3, C1QBP, BSG, BMP4, BCL2, ARRB2, CANX, ARR3, ABCC6, APOE, APOB, AMFR, ADH7, ABO, CACNA1S, CCT, ERBB2, CYBB, EGF, E2F1, DUSP6, DNMT3A, CFD, ACE, CYLD, CTNNB1, CD44, MAPK14, CRYAB, CRK, CP, CORD1, COL2A1, CD74, RAB8A, MSR1, SH3BP4, CYTB, SYNJ1, FGF18, HSD17B6, DGKE, BRAP, SMC1A, USP11, AIMP2, PAX8, ZNF132, ZFP36, USH1E, TSC1, TP53, TNF, TMPRSS2, TSPAN7, SMC3, ARHGEF2, CRLF1, AKT3, TMED3, SIRT1, ARC, MAPRE3, ARPP21, AHSA1, PPIH, HEPH, SNAP29, PLEKHM1, PHYHIP, HDAC4, KNTC1, EIF2AK3, GRAP2, EFTUD2, TIMP2, TIMP1, DYNLT3, PKNOX1, HTRA1, PRNP, MAPK1, PRKCG, POLG, PMM2, PLAU, PIM1, RAC1, PGF, CFP, PDGFRB, NPTX2, NFE2L2, NAGLU, MYC, ALDH18A1, RASGRF1, ELOVL4, SFTPD, STATH, SOS1, SOD1, SNRPB, SNCA, SLC2A1, SGSH, SFRP5, RBP1, SEC14L1, CX3CL1, CCL2, S100A6, RPS6KB1, RPS6, RCVRN, H3P22
- Retinitis Pigmentosa 48 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-48 is caused by heterozygous mutation in the gene encoding guanylate cyclase activator 1B (GUCA1B; 602275) on chromosome 6p21. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features In 7 members of 3 families in which mutation in the GUCA1B gene led to retinitis pigmentosa (RP48), Sato et al. (2005) found that the mutation was associated with RP with or without macular involvement in 5 members, macular degeneration in 1 member, and asymptomatic normal phenotype in 1 member. Sato et al. (2005) concluded that this mutation causes autosomal dominant retinal dystrophy with variable phenotypic expression and incomplete penetrance. Molecular Genetics Sato et al. (2005) screened 96 unrelated Japanese patients with retinitis pigmentosa for mutations in the GUCA1B gene and identified heterozygosity for a G157R mutation (602275.0001) in 3.
- Retinitis Pigmentosa 55 OMIM
  
  Thorough examination of the affected sibs by Safieh et al. (2010) revealed no recognizable primary or secondary features of BBS other than retinitis pigmentosa.
- Intellectual Developmental Disorder And Retinitis Pigmentosa OMIM
  
  A number sign (#) is used with this entry because of evidence that intellectual developmental disorder and retinitis pigmentosa (IDDRP) is caused by homozygous or compound heterozygous mutation in the SCAPER gene (611611) on chromosome 15q24. Description Intellectual developmental disorder and retinitis pigmentosa is characterized by mild to moderate intellectual disability and typical features of RP. Patients experience reduced night vision, constriction of visual fields, and reduced visual acuity; optic disc pallor, attenuated retinal blood vessels, and bone-spicule pigmentation are seen on funduscopy. Attention-deficit/hyperactivity disorder is observed in some patients (Tatour et al., 2017). Clinical Features Tatour et al. (2017) studied 4 patients from 3 unrelated families with intellectual developmental disorder and retinitis pigmentosa.
- Retinitis Pigmentosa 39 OMIM
  
  A number sign (#) is used with this entry because retinitis pigmentosa-39 (RP39) is caused by homozygous or compound heterozygous mutation in the USH2A gene (608400) on chromosome 1q41. Mutations in the same gene cause Usher syndrome type IIA (276901). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Rivolta et al. (2002) described a patient with isolated RP who had complete paternal heterodisomy for chromosome 1. Clinical findings were typical, including fundi with attenuated retinal vessels and intraretinal bone spicule pigment around the periphery. Electroretinograms (ERGs) were reduced but detectable at the age of 54 years.
- Cone-Rod Dystrophy 2 GARD
  
  Cone-rod dystrophy 2 (CORD2) is an inherited eye disorder that affects the rod and cone cells in the retina . These cells process light and allow people to see the accurate shape and color of objects. Initial signs and symptoms of CORD2 usually occur in early childhood or late adolescence and include decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Severity of symptoms and rate of disease progression may vary; however, most individuals experience impaired color vision, blind spots, loss of peripheral vision, and night blindness by adulthood. CORD2 is caused by mutations in the CRX gene and is inherited in an autosomal dominant manner.
- Retinitis Pigmentosa 35 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-35 (RP35) can be caused by compound heterozygous mutation in the SEMA4A gene (607292) on chromosome 1q22. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Molecular Genetics Abid et al. (2006) screened 135 Pakistani patients with retinitis pigmentosa, 25 with cone-rod dystrophy (CORD10; 610283), and 30 with congenital blindness for mutations in the SEMA4A gene. They identified compound heterozygosity for 2 substitutions (607292.0001-607292.0002) in 2 RP and 2 CORD patients and heterozygosity for another substitution (607292.0003) in 3 patients with RP and 1 patient with congenital blindness. None of the mutations were found in 100 ethnically matched controls. INHERITANCE - Autosomal dominant - Autosomal recessive HEAD & NECK Eyes - Night blindness followed by complete blindness - Bone corpuscle-like pigmentation in equatorial and peripheral areas - Attenuated blood vessels in periphery - Macula clear in early stages MISCELLANEOUS - Allelic with cone-rod dystrophy 10 ( 610283 ) MOLECULAR BASIS - Caused by mutation in the semaphorin 4A gene (SEMA4A, 607292.0001 ) ▲ Close
- Retinitis Pigmentosa 72 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-72 (RP72) is caused by homozygous mutation in the ZNF408 gene (616454) on chromosome 11p11. Heterozygous mutation in the ZNF408 gene has been reported to cause exudative vitreoretinopathy (see EVR6, 616468). For a general phenotypic description and discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Avila-Fernandez et al. (2015) studied 3 patients from 2 unrelated Spanish families who presented with night blindness followed by visual field loss and decreased visual acuity. Two sisters, born of unaffected parents from the same small geographic area, had onset of symptoms at 30 and 40 years of age, whereas the unrelated male patient from a consanguineous family presented at 17 years of age.
- Retinitis Pigmentosa 66 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-66 (RP66) is caused by homozygous mutation in the RBP3 gene (180290) on chromosome 10q11. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Den Hollander et al. (2009) studied a consanguineous Italian family in which 3 brothers and a sister had retinitis pigmentosa; 2 of the brothers underwent detailed clinical evaluation, which demonstrated a wide range of severity in this family. The 42-year-old brother reported loss of central vision and onset of night blindness at 32 years of age, whereas his older brother had loss of central vision at age 60 with no night deficiency even at 67 years of age. The older brother had visual acuities of 20/60 and 20/80 and normal color vision, whereas the younger had acuities of 20/200 bilaterally, with a tritan axis of confusion on the Farnsworth-D-15 panel.
- Retinitis Pigmentosa 19 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-19 (RP19) can be caused by homozygous or compound heterozygous mutation in the ABCR gene (ABCA4; 601691) on chromosome 1p22. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features In the population of Spain, 39% of the retinitis pigmentosa pedigrees show an autosomal recessive pattern of inheritance (Ayuso et al., 1995). Martinez-Mir et al. (1997) described a consanguineous Spanish family in which 6 of 7 sibs were affected. The parents, who were related as second cousins, were unaffected. The mean age of onset was 8 years.
- Retinitis Pigmentosa 13 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-13 (RP13) is caused by heterozygous mutation in the PRPF8 gene (607300) on chromosome 17p13. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features The family with autosomal dominant retinitis pigmentosa (adRP) studied by Greenberg et al. (1994) was of British stock. The great-grandfather came to South Africa from Suffolk, England, in the mid-1800s. The onset of night blindness was between 4 and 10 years of age. By middle age, some patients had diffuse fundal changes and extensive retinal degeneration.
- Retinitis Pigmentosa 23 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-23 (RP23) is caused by mutation in the OFD1 gene (300170) on chromosome Xp22. One such family has been reported. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Hardcastle et al. (2000) studied a 5-generation family with an atypical form of retinitis pigmentosa (RP) in which onset of vision loss in males was unusually early, before 2 years of age, and female obligate carriers had normal fundi and waveforms. The proband presented with limited central vision and poor night vision at age 2 years. Upon examination he was able to fix and follow with both eyes; funduscopy showed abnormal grayish macular reflexes and extensive whitish-gray spots throughout the midperiphery of the posterior pole with some areas of coalescence.
- Retinitis Pigmentosa OMIM
  
  A number sign (#) is used with this entry because of the extensive genetic heterogeneity of nonsyndromic retinitis pigmentosa as well as the occurrence of retinitis pigmentosa with many generalized disorders. See INHERITANCE for a list of numbered and unnumbered forms of RP. Description Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900).
- Retinitis Pigmentosa, Late-Adult Onset OMIM
  
  Retinitis pigmentosa with onset of symptoms in the fifth or sixth decade is called senile retinitis pigmentosa. Bonneau et al. (1992) reported a family with 2 affected sisters whose parents were first cousins. Symptoms began in their fifties. The family originated from an area of France where consanguinity is not frequent. Grondahl (1987) described a Norwegian family in which 3 sibs had RP diagnosed at 58, 61, and 57 years of age; the parents came from the same Norwegian island and might have been consanguineous. In a survey of clinical aspects of RP in 93 families, Kaplan et al. (1990) found that autosomal recessive RP represented 21.5% of cases or 25.8% if isolated cases with consanguineous parents were considered.
- Retinitis Pigmentosa 38 OMIM
  
  A number sign (#) is used with this entry because this form of retinitis pigmentosa (RP38) is caused by homozygous or compound heterozygous mutation in the MER tyrosine kinase protooncogene (MERTK; 604705) on chromosome 2q13. Description Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by Mackay et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Gal et al. (2000) described 3 individuals with degenerative retinal disease who carried mutation in the MERTK gene (RP38).
- Retinitis Pigmentosa 20 OMIM
  
  A number sign (#) is used with this entry because autosomal recessive retinitis pigmentosa-20 (RP20) is caused by homozygous or compound heterozygous mutation in the RPE65 gene (180069) on chromosome 1p31. Mutations in the RPE65 gene also cause Leber congenital amaurosis (LCA2; 204100). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Gu et al. (1997) described a 5-generation consanguineous Indian family with 4 members with childhood-onset severe retinal dystrophy (RP20). Onset of severe visual impairment was between 3 and 7 years of age. Night blindness was a typical and early symptom in all patients.
- Retinitis Pigmentosa 45 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-45 (RP45) is caused by homozygous mutation in the gene encoding the beta-1 subunit of the rod photoreceptor cyclic nucleotide-gated channel (CNGB1; 600724) on chromosome 16q21. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Bareil et al. (2001) identified a consanguineous French family in which typical and severe retinitis pigmentosa segregated as an autosomal recessive trait in 3 affected individuals. The proband had night blindness since early childhood. Later, she experienced loss in the peripheral visual field. At 30 years of age, the fundus showed typical bone spicule-shaped pigmentary deposits.
- Retinitis Pigmentosa 47 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-47 (RP47) is caused by homozygous mutation in the S-antigen gene (SAG; 181031) on chromosome 2q37. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Nakazawa et al. (1998) identified 3 unrelated patients with retinitis pigmentosa (RP47) who carried the same homozygous mutation in the SAG gene (181031.0001; see MOLECULAR GENETICS). Patient 1 had a sib with Oguchi disease (258100) associated with the same mutation. Patient 2 demonstrated pigmentary retinal degeneration associated with golden-yellow reflex in the peripheral fundus.
- Retinitis Pigmentosa 44 OMIM
  
  A number sign (#) is used with this entry because this form of retinitis pigmentosa is caused by homozygous or heterozygous mutation in the gene encoding the RPE-retinal G protein-coupled receptor (RGR; 600342) on chromosome 10q23. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Using a single-strand conformation technique, Morimura et al. (1999) searched for mutations in the exons and flanking intron sequences of RGR in 182 unrelated patients with dominantly inherited retinitis pigmentosa, 182 with recessive retinitis pigmentosa, 383 with simplex retinitis pigmentosa (sporadic cases), 45 with Leber congenital amaurosis (see 204000), 28 with retinitis punctata albescens (see 136880), 22 with choroidal sclerosis (see 303100), and approximately 95 normal controls. They identified 2 probands with mutations in the RGR gene. One proband with autosomal recessive RP had 4 affected sibs. All affected sibs (aged 35 to 44) had visual acuity of 20/200 or worse, severely constricted visual fields, attenuated retinal vessels, diffuse depigmentation of the retinal pigment epithelium (RPE), and intraretinal pigment deposits in the periphery.
- Retinitis Pigmentosa 57 OMIM
  
  A number sign (#) is used with this entry because retinitis pigmentosa-57 (RP57) is caused by homozygous mutation in the PDE6G gene (180073). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Dvir et al. (2010) studied an extended Israeli Muslim Arab pedigree segregating severe early-onset autosomal recessive retinitis pigmentosa in which affected individuals had markedly constricted visual fields, ranging from 10% to less than 5%, with tiny residual islands of central vision. Nevertheless, best-corrected visual acuity was relatively good. Both scotopic and photopic electroretinograms were severely reduced or completely extinct as early as 4 years of age. Funduscopy showed typical bone spicule-type pigment deposits spread mainly at the midperiphery, as well as optic disc pallor.
- Retinitis Pigmentosa 4 OMIM
  
  A number sign (#) is used with this entry because retinitis pigmentosa-4 (RP4) is caused by heterozygous, and rarely by homozygous, mutation in the RHO gene (180380) on chromosome 3q22. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Bradley et al. (1989, 1989) reported a large 5-generation Irish family segregating autosomal dominant early-onset retinitis pigmentosa. Affected status was determined by using titally extinguished electroretinogram (ERG) and/or symptoms characteristic of RP, including nyctolopia and peripheral visual field loss. In addition, all affected individuals exhibited funduscopic disturbances typical of RP: disc pallor, attenuation of retinal vessels, and classic bone-spicule pigmentary deposits in the retinal periphery.
- Cone-Rod Dystrophy 15 OMIM
  
  A number sign (#) is used with this entry because this form of cone-rod dystrophy (CORD15) can be caused by homozygous mutation in the CDHR1 gene (609502) on chromosome 10q23. An adult-onset form of retinitis pigmentosa (RP65) can also be caused by homozygous mutation in the CDHR1 gene. For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Cone-Rod Dystrophy 15 Ostergaard et al. (2010) studied 6 affected members of a 3-generation consanguineous pedigree from the Faroe Islands segregating autosomal recessive cone-rod dystrophy.
- Leber Congenital Amaurosis 14 OMIM
  
  A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-14 (LCA14) is caused by homozygous mutation in the LRAT gene (604863) on chromosome 4q32. Mutation in the LRAT gene can also cause juvenile retinitis pigmentosa and a form of early-onset severe retinal dystrophy. Description Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.
- Retinitis Pigmentosa 74 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-74 (RP74) is caused by homozygous or compound heterozygous mutation in the BBS2 gene (606151) on chromosome 16q13. Clinical Features Shevach et al. (2015) reported a Moroccan Jewish family in which 3 sibs had nonsyndromic retinitis pigmentosa. The proband received a diagnosis of RP at age 20 years following complaints of impaired night vision and constricted visual fields. At age 32, her electroretinographic responses were undetectable. At age 49, her visual acuity was at the level of hand motions, and posterior polar cataract and posterior subcapsular opacity were evident. Fundus findings were compatible with advanced RP, including moderate pallor of the optic disc, widespread atrophy, and pigmentary changes.
- Retinitis Pigmentosa 51 OMIM
  
  There were no signs of polydactyly or midline defects or facies reminiscent of BBS, and no evidence of developmental delay, appreciable cognitive impairment, or inappropriate social behavior. ... None of the affected individuals exhibited any extraocular characteristics of BBS, and thus were considered to represent nonsyndromic autosomal recessive RP with macular degeneration.
- Retinitis Pigmentosa 54 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-54 (RP54) is caused by homozygous mutation in the C2ORF71 gene (PCARE; 613425) on chromosome 2p23. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features In a 4-generation consanguineous family with retinitis pigmentosa studied by Nishimura et al. (2010), the phenotype was variable in that 6 of 8 affected individuals had adult-onset RP, whereas 2 patients had a much earlier onset of disease, at less than 5 years of age, and had severe generalized dystrophy associated with nystagmus. Collin et al. (2010) described 4 Dutch sibs from a large pedigree, originally reported by Pinckers et al. (1973), segregating autosomal dominant granular corneal dystrophy, autosomal recessive retinal degeneration, and intermediately transmitted albinism. The 4 affected sibs were the only family members who manifested retinal degeneration, consisting of a photoreceptor dystrophy resembling RP or rod-cone dystrophy in most aspects.
- Retinitis Pigmentosa, Y-Linked OMIM
  
  Clinical Features Zhao et al. (1995) reported a 4-generation Chinese family in which retinitis pigmentosa affected only males. All sons of affected males were affected, but all 4 daughters of affected males (and all children of these daughters) were healthy. Inheritance According to Zhao et al. (1995) the probability of autosomal dominant inheritance in the family they reported is only 1:8,192. Therefore, the authors proposed Y-linked inheritance as a possible explanation for the pattern in this family. INHERITANCE - Y-linked HEAD & NECK Eyes - Retinitis pigmentosa MISCELLANEOUS - Based on 1 4-generation Chinese family - Limited clinical information provided ▲ Close
- Retinitis Pigmentosa 46 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-46 (RP46) is caused by homozygous mutation in the isocitrate dehydrogenase 3B gene (IDH3B; 604526) on chromosome 20p13. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Hartong et al. (2008) provided results of an ophthalmologic examination of 2 individuals with autosomal recessive IDH3B-related retinitis pigmentosa. The index case and the other individual, identified in a screen of patients with recessive or simplex retinitis pigmentosa, were evaluated at ages 47 and 38 years, respectively. Both had subnormal visual acuities, concentrically constricted visual fields, fundi typical of retinitis pigmentosa (pale optic discs, attenuated arterioles, and intraretinal pigment deposits), impaired dark adaptation, and reduced electroretinogram amplitudes indicating substantial loss of rod and cone photoreceptor function.
- Retinitis Pigmentosa 79 OMIM
  
  A number sign (#) is used with this entry because of evidence that autosomal dominant retinitis pigmentosa-79 (RP79) is caused by heterozygous mutation in the HK1 gene (142600) on chromosome 10q22. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Sullivan et al. (2014) studied a large 6-generation family (UTAD003) segregating autosomal dominant retinitis pigmentosa (adRP). The retinal dystrophy in the family could be traced back to an Acadian ancestor in the early 1800s, who was from the same region of south-central Louisiana where the family still lived. Affected members of the family exhibited a highly variable phenotype, with some reporting night blindness and/or patchy vision from early childhood, whereas others did not have discernible symptoms until well into the sixth or seventh decade of life.
- Retinitis Pigmentosa 37 OMIM
  
  A number sign (#) is used with this entry because retinitis pigmentosa-37 (RP37) is caused by heterozygous or homozygous mutation in the NR2E3 gene (604485) on chromosome 15q23. Mutation in the NR2E3 gene is also the cause of enhanced S-cone syndrome (ESCS; 268100). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Coppieters et al. (2007) described a 4-generation Belgian family which segregated autosomal dominant retinitis pigmentosa (adRP) in 25 individuals. The phenotype corresponded to that seen in classic adRP, with progressive degeneration of rods and subsequent involvement of cones, further characterized by progressive intraretinal pigment migration, generally of the spicular type.
- Retinitis Pigmentosa Wikipedia
  
  Gradual retinal degeneration leading to progressive sight loss Retinitis pigmentosa Back of the eye of a person with retinitis pigmentosa, mid stage. Note pigment deposits in the mid periphery along with retinal atrophy . While the macula is preserved there is some loss of pigmentation around it. Specialty Ophthalmology Symptoms Trouble seeing at night , decrease peripheral vision [1] Usual onset Childhood [1] Causes Genetic [1] Diagnostic method Eye examination [1] Treatment Low vision aids , portable lighting, orientation and mobility training [1] Medication Vitamin A palmitate [1] Frequency 1 in 4,000 people [1] Retinitis pigmentosa ( RP ) is a genetic disorder of the eyes that causes loss of vision . [1] Symptoms include trouble seeing at night and decreased peripheral vision (side vision). [1] As peripheral vision worsens, people may experience " tunnel vision ". [1] Complete blindness is common. [2] Onset of symptoms is generally gradual and often in childhood. [1] [2] Retinitis pigmentosa is generally inherited from a person's parents . [1] Mutations in one of more than 50 genes are involved. [1] The underlying mechanism involves the progressive loss of rod photoreceptor cells in the back of the eye . [1] This is generally followed by loss of cone photoreceptor cells . [1] Diagnosis is by an examination of the retina finding dark pigment deposits. [1] Other supportive testing may include an electroretinogram , visual field testing , or genetic testing . [1] There is currently no cure for retinitis pigmentosa. [2] Efforts to manage the problem may include the use of low vision aids , portable lighting, or orientation and mobility training. [1] Vitamin A palmitate supplements may be useful to slow worsening. [1] A visual prosthesis may be an option in certain people with severe disease. [1] It is estimated to affect 1 in 4,000 people. [1] Contents 1 Signs and symptoms 2 Causes 2.1 Genetics 3 Pathophysiology 4 Diagnosis 5 Treatment 6 Prognosis 7 Epidemiology 8 Research 9 Notable cases 10 See also 11 References 12 External links Signs and symptoms [ edit ] Example of tunnel vision (bottom) The initial retinal degenerative symptoms of retinitis pigmentosa are characterized by decreased night vision ( nyctalopia ) and the loss of the mid-peripheral visual field. [3] The rod photoreceptor cells, which are responsible for low-light vision and are orientated in the retinal periphery, are the retinal processes affected first during non-syndromic forms of this disease. [4] Visual decline progresses relatively quickly to the far peripheral field, eventually extending into the central visual field as tunnel vision increases. Visual acuity and color vision can become compromised due to accompanying abnormalities in the cone photoreceptor cells, which are responsible for color vision, visual acuity, and sight in the central visual field. [4] The progression of disease symptoms occurs in a symmetrical manner, with both the left and right eyes experiencing symptoms at a similar rate. [5] A variety of indirect symptoms characterize retinitis pigmentosa along with the direct effects of the initial rod photoreceptor degeneration and later cone photoreceptor decline.
- Leber Congenital Amaurosis 4 OMIM
  
  A number sign (#) is used with this entry because Leber congenital amaurosis-4 (LCA4) is caused by homozygous or compound heterozygous mutation in the gene encoding arylhydrocarbon-interacting protein-like-1 (AIPL1; 604392) on chromosome 17p13. Heterozygous mutation in the AIPL1 gene can cause juvenile retinitis pigmentosa and a form of cone-rod dystrophy. Description Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (LCA), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Various intermediate phenotypes between LCA and retinitis pigmentosa are known and are sometimes described as 'early-onset severe rod-cone dystrophy' or 'early-onset retinal degeneration' (Booij et al., 2005).
- Retinitis Pigmentosa 61 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-61 (RP61) is caused by homozygous mutation in the CLRN1 gene (606397) on chromosome 3q25. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Khan et al. (2011) described 2 consanguineous Pakistani families segregating autosomal recessive retinitis pigmentosa. Analysis of the fundus of affected individuals of both families indicated attenuation of the retinal vessels, waxy appearance of the optic disc, and bone spicule pigmentation in the periphery of the retina. ERG analysis revealed that the scotopic responses, which are indicative of the activity of the rod photoreceptors, were more severely diminished than the photopic responses.
- Retinitis Pigmentosa 12 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-12 (RP12) is caused by homozygous or compound heterozygous mutations in the CRB1 gene (604210) on chromosome 1q31. Homozygous or compound heterozygous mutation in CRB1 can also cause a more severe retinal dystrophy, Leber congenital amaurosis (LCA8; see 604210). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Heckenlively (1982) described 5 patients with retinitis pigmentosa of probable autosomal recessive inheritance who showed relative preservation of retinal pigment epithelium adjacent to and under retinal arterioles and hypermetropia (RP patients tend to be myopic). Affected sibs and parental consanguinity were noted. Bleeker-Wagemakers et al. (1992) reported a consanguineous Dutch family of 90 members from a genetically isolated population in the north of the Netherlands.
- Retinitis Pigmentosa 26 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-26 (RP26) is caused by homozygous or compound heterozygous mutation in the CERKL gene (608381), which encodes a ceramide kinase, on chromosome 2q31. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Mapping Bayes et al. (1998) performed linkage analysis in a large nuclear Spanish family with 5 sibs affected by autosomal recessive retinitis pigmentosa (arRP). After excluding several genomic regions containing loci for retinal dystrophies, a genomewide search for linkage was undertaken. Positive lod scores were obtained with markers on chromosome 2q31-q33, defining an interval of about 7 cM for this novel ARRP locus, designated RP26, between D2S148 and D2S161.
- Retinitis Pigmentosa 62 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-62 (RP62) is caused by homozygous mutation in the MAK gene (154235) on chromosome 6p24. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Ozgul et al. (2011) studied 8 patients with retinitis pigmentosa who were found to have mutations in the MAK gene. The age at diagnosis in 3 patients was in the third decade of life, whereas the other 5 patients were diagnosed in the fourth through sixth decades of life. Visual acuity was relatively preserved, with 6 of the 8 patients having 20/40 acuity in at least 1 eye.
- Retinitis Pigmentosa 49 OMIM
  
  A number sign (#) is used with this entry because retinitis pigmentosa-49 (RP49) is caused by homozygous or compound heterozygous mutation in the alpha-1 cyclic nucleotide-gated channel gene (CNGA1; 123825) on chromosome 4p12. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Molecular Genetics In a screen of 267 patients with autosomal dominant or autosomal recessive retinitis pigmentosa, Dryja et al. (1995) identified 4 probands with autosomal recessive RP carrying mutations in the CNCG1 (CNGA1) gene. Five mutant sequences cosegregated with the disease among 4 unrelated families with autosomal recessive RP. In 3 of the families, the affected individuals were either homozygous for a mutation or were compound heterozygotes.
- Retinitis Pigmentosa GARD
  
  Retinitis pigmentosa (RP) is a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). RP causes cells in the retina to die, causing progressive vision loss. The first sign of RP usually is night blindness . As the condition progresses, affected individuals develop tunnel vision (loss of peripheral vision), and eventually loss of central vision. RP may be caused by mutations in any of at least 50 genes. Inheritance can be autosomal dominant, autosomal recessive, or X-linked. Treatment options to slow the progression of vision loss include light avoidance, use of low-vision aids, and vitamin A supplementation.
- Retinitis Pigmentosa 9 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-9 (RP9) is caused by heterozygous mutation in the RP9 gene (607331) on chromosome 7p14. One such patient has been reported. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Description Autosomal dominant retinitis pigmentosa (ADRP) is characterized by a typical fundus appearance, narrowed retinal vessels, and changes in the electrophysiological responses of the eye. Early signs are night blindness and constriction of the visual fields with a variable ages of onset (summary by Jay et al., 1992). Clinical Features Jay et al. (1992) described a 9-generation family (family N) with autosomal dominant retinitis pigmentosa.
- Retinitis Pigmentosa 1 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-1 (RP1) is caused by heterozygous, homozygous, or compound heterozygous mutation in the ORP1 gene (RP1; 603937) on chromosome 8q12. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Blanton et al. (1991) described a large extended American family (UCLA-RP01) segregating autosomal dominant retinitis pigmentosa with relatively late onset of night blindness, usually by the third decade of life, and with slow progression. Characteristic clinical findings included diffuse retinal pigmentation, progressive decrease in recordable ERGs, and concentric visual field loss. Funduscopic findings included retinal atrophy, bone-spicule-like pigment deposits, and vascular attenuation.
- Retinitis Pigmentosa 58 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-58 (RP58) is caused by homozygous mutation in the ZNF513 gene (613598) on chromosome 2p23. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Naz et al. (2010) studied a consanguineous Pakistani family segregating autosomal recessive retinitis pigmentosa (RP). All affected individuals had progressive night blindness since the age of 8 to 10 years. Vision in affected individuals was limited to light perception or hand movement with no peripheral vision.
- Retinitis Pigmentosa 50 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-50 (RP50) is caused by heterozygous mutation in the BEST1 gene (607854) on chromosome 11q12. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Mapping In a nonconsanguineous family of European descent segregating autosomal dominant retinitis pigmentosa, Davidson et al. (2009) performed linkage analysis and obtained a maximum lod score of 2.9 on chromosome 11; haplotype analysis revealed a 64.9-Mb critical region between markers rs536715 and rs17304039, containing the BEST1 gene. Molecular Genetics In the proband of a nonconsanguineous family of European descent segregating autosomal dominant retinitis pigmentosa (adRP) mapping to chromosome 11, Davidson et al. (2009) sequenced the candidate gene BEST1 and identified heterozygosity for a missense mutation (I205T; 607854.0022) that was subsequently detected in 9 other affected family members and was absent from 5 unaffected family members. Analysis of BEST1 in a panel of 95 adRP patients who were negative for mutation in 10 known RP genes and in 12 patients with concentric RP revealed heterozygosity for a D228N missense mutation (607854.0023) in affected members of 1 adRP family and 1 concentric RP family, and heterozygosity for a Y227C mutation (607854.0024) in another concentric RP family.
- Retinitis Pigmentosa 67 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-67 (RP67) is caused by homozygous mutation in the NEK2 gene (604043) on chromosome 1q32. One such family has been reported. Description Retinitis pigmentosa (RP) is the name given to a group of hereditary retinal conditions in which degeneration of rod photoreceptors, responsible for vision under dark conditions, is more pronounced than that of cone photoreceptors, which mediate daylight vision. Individuals with RP typically experience night blindness at first, followed by progressive and unstoppable visual impairment in daytime conditions as well. Their visual fields become reduced gradually and sight is lost from the midperiphery to the periphery, then from the midperiphery to the center, resulting eventually in complete or near-complete blindness if left untreated. Most patients show intraretinal pigment in a bone-spicule configuration around the fundus periphery as well as retinal arteriolar attenuation, elevated final dark-adapted thresholds, and reduced and delayed electroretinograms.
- Retinitis Pigmentosa 77 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-77 (RP77) is caused by homozygous or compound heterozygous mutation in the REEP6 gene (609346) on chromosome 19p13. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Arno et al. (2016) examined the probands from 5 unrelated families with autosomal recessive retinitis pigmentosa. All probands presented with nyctalopia, with onset varying from early childhood to 20 years of age. There was a gradual decline in vision, characterized by reduced peripheral visual fields followed by reduced visual acuity.
- Retinitis Pigmentosa 60 OMIM
  
  A number sign (#) is used with this entry because retinitis pigmentosa-60 (RP60) can be caused by heterozygous mutation in the PRPF6 gene (613979) on chromosome 20q13.33. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Tanackovic et al. (2011) described the proband from a 4-generation family of European descent segregating autosomal dominant retinitis pigmentosa, who presented at 37 years of age for evaluation of decreased night vision and loss of peripheral vision. Funduscopy revealed bilateral normal discs with atrophy just temporal to the disc, clear macula, attenuated retinal arterioles, and bone spicule pigment all around the periphery. Reexamination almost 20 years later at 55 years of age demonstrated progression of disease, with decline in visual acuity to hand motions OD and 20/100 OS, as well as reductions in visual fields and full-field ERG amplitudes; funduscopy at that time showed waxy pallor of the discs bilaterally, atrophy of the retinal pigment epithelium and prominent choroidal vessels in each macula, attenuated retinal vessels, and bone spicule pigment visible in the midperiphery.
- Retinitis Pigmentosa 56 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-56 (RP56) is caused by homozygous mutation in the gene encoding interphotoreceptor matrix proteoglycan-2 (IMPG2; 607056) on chromosome 3q12. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Bandah-Rozenfeld et al. (2010) examined 12 patients from 7 families with retinal disease and mutations in the IMPG2 gene. In general, affected individuals with IMPG2 mutations displayed typical symptoms and signs of RP, including night blindness, visual field loss, optic disc pallor, attenuated vessels, and bone-spicule-like pigmentation. In 11 of the 12 patients, lens abnormalities were observed: 7 had posterior subcapsular cataracts, 2 had mild cortical cataracts, 1 had pseudophakia, and 1 patient, who was diagnosed with mild maculopathy (see VMD5, 616152) rather than RP, had mild nuclear sclerosis.
- Retinitis Pigmentosa MedlinePlus
  
  Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye . In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which becomes apparent in childhood. Problems with night vision can make it difficult to navigate in low light.
- Retinitis Pigmentosa 76 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-76 (RP76) is caused by homozygous mutation in the POMGNT1 gene (606822) on chromosome 1p34. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Xu et al. (2016) studied an Italian sister and brother with retinitis pigmentosa. The 78-year-old sister, who became aware of nyctalopia and vision problems at age 12 years, showed visual acuity of 20/80 in the right eye and light-perception only in the left eye, constricted visual fields, and peripapillary atrophy; funduscopy revealed bone spicule pigmentation and attenuated retinal vessels. Her 69-year-old brother, who was aware of vision problems at age 10 years, had visual acuities of 20/100 and very restricted visual fields bilaterally, with bone spicules, narrow retinal vessels, peripapillary atrophy, and a tigroid appearance of the fundus.
- Retinitis Pigmentosa 73 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-73 (RP73) is caused by homozygous mutation in the HGSNAT gene (610453) on chromosome 8p11. Mutation in the HGSNAT gene also causes mucopolysaccharidosis type IIIC (252930), the features of which include late-onset RP. Clinical Features Haer-Wigman et al. (2015) studied 3 affected individuals from 2 Ashkenazi Jewish Israeli families and 3 sibs from a Dutch family with nonsyndromic retinitis pigmentosa. All had night blindness and/or visual field loss as initial symptoms, but in the Israeli families, the 3 patients noted onset in childhood or adolescence and were diagnosed with RP in the fourth decade of life, whereas in the Dutch family, onset of symptoms did not occur until the fifth or sixth decade of life. The proband from the first Ashkenazi Jewish family was diagnosed at age 34 years, at which time full-field electroretinography (ERG) responses were undectectable.
- Retinopathy, Pericentral Pigmentary, Dominant OMIM
  
  Grondahl (1987) diagnosed autosomal dominant pericentral retinal dystrophy in 4 families from northern Norway. Three of these families had a pigmentary retinal degeneration of night blindness starting in the teens and leading to blindness in the sixth and seventh decades of life, after the development of bony spicules, attenuation of retinal blood vessels, and retinal atrophy. Thus, the changes were quite different from those in the sibs reported by Traboulsi et al. (1988); see 268060. Eyes - Pericentral retinal dystrophy - Pigmentary retinal degeneration - Night blindness - Late blindness - Bony spicule pigmentary retinopathy - Attenuation of retinal blood vessels - Retinal atrophy Inheritance - Autosomal dominant ▲ Close
- Retinitis Pigmentosa 69 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-69 (RP69) is caused by homozygous or compound heterozygous mutation in the KIZ gene (615757) on chromosome 20p11. Description Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by El Shamieh et al., 2014). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features El Shamieh et al. (2014) studied 3 unrelated patients with rod-cone dystrophy (retinitis pigmentosa) and mutations in the KIZ gene (see MOLECULAR GENETICS). All were diagnosed in their late teens on the basis of night blindness followed by changes in midperipheral visual fields and undetectable responses on full-field electroretinography by approximately 35 years of age.
- Retinitis Pigmentosa 82 With Or Without Situs Inversus OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-82 with or without situs inversus (RP82) is caused by homozygous mutation in the ARL2BP gene (615407) on chromosome 16q13. Clinical Features Davidson et al. (2013) studied a consanguineous family of Arab Muslim origin in which 3 sibs were diagnosed with retinitis pigmentosa (RP) in their 20s, after complaints of night vision and visual field impairment. At 36 years of age, the oldest sib could detect hand motion with her right eye and had bare light perception with her left eye, with no significant refractive errors. Mild posterior subcapsular cataracts were present, and funduscopy revealed typical signs of RP, including optic disc pallor, mild to moderate bone-spicule-like pigmentation in the midperiphery, and attenuated retinal blood vessels. All 3 sibs displayed a marked component of macular atrophy, with smaller and larger atrophic patches, as well as epiretinal membranes with wrinkling of the retina.
- Retinitis Pigmentosa 29 OMIM
  
  For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Hameed et al. (2001) reported a 6-generation, consanguineous Pakistani family with autosomal recessive retinitis pigmentosa (arRP). All affected individuals had pigmentary retinopathy associated with symptoms of night blindness and the loss of peripheral visual fields by the age of 20 years, loss of central vision between the ages of 25 and 30 years, and complete blindness between the ages of 40 and 50 years. Mapping By linkage analysis in a Pakistani family with arRP, Hameed et al. (2001) mapped the disease locus to chromosome 4q32-q34, with a maximum lod score of 3.76 for marker D4S415, with no recombination. Further analyses gave a probable disease interval of 4.6 cM between markers D4S3035 and D4S2417.
- Retinitis Pigmentosa 32 OMIM
  
  For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Zhang et al. (2005) identified a severe form of retinitis pigmentosa (RP) in a large consanguineous Pakistani family, in which all affected individuals had night blindness in early childhood, early complete loss of useful vision, and typical RP fundus changes plus macular degeneration. Mapping After exclusion of known RP loci in a consanguineous Pakistani family, Zhang et al. (2005) performed a genomewide scan which showed linkage to markers in a 10.5-cM region of chromosome 1p21.2-p13.3, between D1S2896 and D1S457. The highest lod score, 6.54 at theta = 0.0, was obtained at D1S485. Zhang et al. (2005) noted that this locus, designated RP32, lies approximately 4.9 cM from the ABCA4 gene (601691), which was excluded from the linked region.
- Retinitis Pigmentosa 7 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-7 (RP7) is caused by heterozygous mutation in the RDS gene (PRPH2; 179605) on chromosome 6p21. Homozygous mutation in the PRPH2 gene causes retinal dystrophy of earlier onset, diagnosed clinically as Leber congenital amaurosis (LCA18). One patient was reported to have juvenile retinitis pigmentosa. Heterozygous mutation in the PRPH2 gene has also been reported to cause various retinal disorders with overlapping or related phenotypes, e.g., retinitis punctata albescens (see 136880), central areolar choroidal dystrophy (CACD2; 613105), vitelliform macular dystrophy-3 (VMD3; 608161), and patterned macular dystrophy (169150). A digenic form of retinitis pigmentosa resulting from a mutation in the RDS gene (179605.0004) and a null mutation of the ROM1 gene (see 180721.0001) has been reported. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000; for Leber congenital amaurosis, see 204000.
- Retinitis Pigmentosa 2 OMIM
  
  A number sign (#) is used with this entry because X-linked retinitis pigmentosa-2 (RP2) is caused by mutation in the RP2 gene (300757) on chromosome Xp11. Description Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features The X-linked form of retinitis pigmentosa is also called choroidoretinal degeneration, or pigmentary retinopathy.
- Retinitis Pigmentosa 43 OMIM
  
  A number sign (#) is used with this entry because this form of retinitis pigmentosa (RP43) is caused by homozygous or compound heterozygous mutation in the PDE6A gene (180071), encoding the alpha subunit of cGMP phosphodiesterase, on chromosome 5q31-q33. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Huang et al. (1995) studied 2 unrelated families segregating autosomal recessive retinitis pigmentosa (RP). Affected individuals reported night blindness since early childhood. Visual field testing revealed marked peripheral field loss. Fundus examination showed abnormalities typical of RP including waxy pallor of the optic discs, attenuated retinal vessels, Corton et al. (2010) described a 5-generation consanguineous Spanish pedigree segregating autosomal recessive RP, in which 3 sibs and their nephew exhibited common symptoms such as bilateral vision impairment and night blindness from early childhood, abolished electroretinogram (ERG) responses, and fundus features typically associated with RP, including optic disc pallor, attenuated vessels, and intraretinal clumping of pigment.
- Retinitis Pigmentosa 33 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-33 (RP33) is caused by heterozygous mutation in the SNRNP200 gene (601664) on chromosome 2q11. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Zhao et al. (2006) reported a Chinese family in which 13 members spanning 4 generations developed retinitis pigmentosa in an autosomal dominant pattern of inheritance. Affected individuals developed night blindness at about 16 to 18 years of age. Subsequently, visual acuity gradually decreased with accompanying progressive loss of peripheral visual fields.
- Retinitis Pigmentosa 3 OMIM
  
  Cytogenetics Francke et al. (1985) studied a male patient ('patient BB') with 3 X-linked disorders: chronic granulomatous disease with cytochrome b(-245) deficiency (CGD; 306400) and McLeod red cell phenotype (300842), Duchenne muscular dystrophy (DMD; 310200), and retinitis pigmentosa. ... A recombination proximal to DXS1110 (between markers DXS8349 and M6) was found in 1 patient with RP3, placing the mutation locus outside the deletion breakpoint, located about 40 kb centromeric to DXS11110, of patient BB reported by Francke et al. (1985). ... It is also the locus presumably deleted in BB, the boy with RP, Duchenne muscular dystrophy, chronic granulomatous disease, and McLeod syndrome (Francke et al., 1985).
- Retinitis Pigmentosa 27 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-27 (RP27) is caused by heterozygous mutation in the neural retina leucine zipper gene (NRL; 162080) on chromosome 14q11. One family with a clinical diagnosis of clumped pigment-type retinal degeneration has been reported with compound heterozygous mutation in the NPL gene. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features In a large 3-generation British family (RP251) segregating autosomal dominant retinitis pigmentosa, Bessant et al. (1999) excluded previously identified autosomal dominant loci and identified a heterozygous mutation in the NRL gene (S50T; 162080.0001) in affected members. Bessant et al. (2000) identified 3 other British RP families who carried the same mutation and determined that all 4 families were descended from a common founder.
- Retinitis Pigmentosa 84 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-84 (RP84) is caused by homozygous mutation in the DHX38 gene (605584) on chromosome 16q22. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Ajmal et al. (2014) reported 4 affected sibs from a consanguineous Pakistani family with early-onset retinitis pigmentosa and macular coloboma. All of the sibs had developed night blindness at 4 years of age, and all were completely blind (no light perception). Funduscopic examination of the proband showed severely attenuated retinal vessels throughout the fundus, and the maculae were severely affected bilaterally, with unusually prominent and deep macular colobomas devoid of neuroretinal tissue.
- Retinitis Pigmentosa 63 OMIM
  
  For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Kannabiran et al. (2012) described a large Indian family in which 14 of 34 individuals studied had retinitis pigmentosa. Age at presentation ranged from 16 to 65 years, and in most cases the initial symptoms consisted of night blindness associated with blurred vision. Fundus examination revealed a range of features, including degeneration of the retinal pigment epithelium (RPE) to varying extents, arterial attenuation, disc pallor, and pigment migration. Electroretinography (ERG) showed diminished or extinguished responses.
- Retinitis Pigmentosa 36 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-36 (RP36) is caused by homozygous mutation in the PRCD gene (610598) on chromosome 17q25. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Zangerl et al. (2006) examined a 32-year-old woman from Bangladesh who first noticed difficulty seeing at night as a child. Funduscopic examination revealed optic discs with fairly normal color but markedly attenuated arterioles. Extensive bone-spicule-like pigmentation was present in all 4 quadrants of both eyes, with highest density at the equator, and was admixed with lighter colored deposits at the level of the retinal pigment epithelium.
- Retinitis Pigmentosa 28 OMIM
  
  A number sign (#) is used with this entry because retinitis pigmentosa-28 (RP28) is caused by homozygous or compound heterozygous mutation in the FAM161A gene (613596) on chromosome 2p15. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Gu et al. (1999) described a consanguineous Indian family in which 4 members in 2 generations had autosomal recessive RP. Age of onset was between 5 and 15 years. The 3 oldest members, aged 39 to 47, had severe visual handicap. Langmann et al. (2010) studied 3 German patients with RP28 and reviewed the phenotype of the Indian family studied by Gu et al. (1999), stating that this type of retinal dystrophy shows no unique clinical features.
- Leber Congenital Amaurosis 3 OMIM
  
  A number sign (#) is used with this entry because Leber congenital amaurosis-3 (LCA3) and a form of juvenile retinitis pigmentosa are caused by homozygous or compound heterozygous mutation in the SPATA7 gene (609868) on chromosome 14q31. Description Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Mackay et al. (2011) concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement. For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.
- Retinitis Pigmentosa 25 OMIM
  
  A number sign (#) is used with this entry because retinitis pigmentosa-25 (RP25) is caused by homozygous or compound heterozygous mutation in the EYS gene (612424) on chromosome 6q12. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Collin et al. (2008) examined 6 affected individuals from 3 families with retinitis pigmentosa, all but 1 of whom displayed characteristic RP abnormalities including night blindness as the initial symptom, retinal bone-spicule pigmentation and attenuated retinal vessels, constriction of visual fields, and a nonrecordable ERG or ERG responses in a rod-cone pattern. Two unrelated patients had posterior subcapsular cataracts. The authors observed differences in the photoreceptor dystrophy between the families: in 1 patient from family A, the cones were more severely affected than the rods (cone-rod pattern) and kinetic visual fields were not constricted but showed bilateral central scotomas; fundus examination revealed central abnormalities at the level of the retinal pigment epithelium and moderate attenuation of retinal vessels. Her 60-year-old brother also had central fundus lesions, but his ERG showed neither rod nor cone activity.
- Retinitis Pigmentosa 10 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-10 (RP10) is caused by heterozygous mutation in the IMPDH1 gene (146690) on chromosome 7q32. Heterozygous mutation in the IMPDH1 gene can also cause Leber congenital amaurosis-11 (LCA11; 613837). Description Retinitis pigmentosa-10 (RP10) is characterized in most patients by early onset and rapid progression of ocular symptoms, beginning with night blindness in childhood, followed by visual field constriction. Some patients experience an eventual reduction in visual acuity. Funduscopy shows typical changes of RP, including optic disc pallor, retinal vascular attenuation, and bone-spicule pattern of pigmentary deposits in the retinal midperiphery. Electroretinography demonstrates equal reduction in rod and cone responses (Jordan et al., 1993; Bowne et al., 2002; Bowne et al., 2006).
- Retinitis Pigmentosa 30 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-30 (RP30) is caused by mutation in the retinal fascin gene (FSCN2; 607643) on chromosome 17q25. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Wada et al. (2001) studied 4 Japanese families segregating autosomal dominant retinitis pigmentosa (adRP). All 14 affected patients had had night blindness from childhood. Their visual acuity ranged from hand motion to 1.0. Fundus examination of affected members of 3 generations of 1 family disclosed the progression of retinal degeneration with increasing age.
- Retinitis Pigmentosa 34 OMIM
  
  For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Melamud et al. (2006) described a 3-generation family in which retinitis pigmentosa appeared to be transmitted in an X-linked manner. Four affected individuals who were examined described onset of night blindness, and some described color vision difficulties in the second decade of life, with the earliest at 13 years of age. Indirect ophthalmoscopy revealed peripheral bone spicules, waxy pallor of the optic nerve, and attenuated retinal blood vessels in all patients. All had evidence of constricted peripheral vision. Visual acuity ranged from 20/40 to 20/80+.
- Retinitis Pigmentosa 22 OMIM
  
  For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Mapping Finckh et al. (1998) collected DNA samples from 20 large consanguineous Indian families in which autosomal recessive retinitis pigmentosa (arRP) segregated and that were suitable for homozygosity mapping of the disease locus. After excluding linkage to all known arRP loci, a genomewide scan was initiated. In 2 families, homozygosity mapping, haplotype analysis, and linkage data mapped the disease locus (RP22) in an approximately 16-cM region between D16S287 and D16S420 on the proximal short arm of chromosome 16. The location of RP22 was given as 16p12.3-p12.1. Molecular Genetics By direct sequencing, Finckh et al. (1998) found no mutation in the CRYM gene (123740), which encodes mu crystallin and maps to the same region.
- Retinitis Pigmentosa 24 OMIM
  
  For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Gieser et al. (1998) described a 5-generation family with X-linked retinitis pigmentosa designated RP24. Affected males (hemizygotes) had early onset of rod photoreceptor dysfunction; cone-receptor function was normal at first, but there was progressive loss. Patients at advanced stages showed little or no detectable rod or cone function and had clinical hallmarks of typical RP. Mapping Gieser et al. (1998) demonstrated linkage of X-linked retinitis pigmentosa in a 5-generation family to Xq26-q27.
- Retinitis Pigmentosa 78 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-78 (RP78) is caused by homozygous or compound heterozygous mutation in the ARHGEF18 gene (616432) on chromosome 19p13. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Arno et al. (2017) studied 3 unrelated individuals with simplex retinitis pigmentosa. All presented in their third to fourth decades with central visual disturbance, visual field defects, and mild nyctalopia. Examination at ages 37, 38, and 51 years, respectively, revealed visual acuities ranging from 20/30 to 20/1250, with the worst in the oldest individual (patient 2; GC3626).
- Retinitis Pigmentosa 17 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-17 (RP17) is caused by heterozygous mutation in the gene encoding carbonic anhydrase IV (CA4; 114760) on chromosome 17q23. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Yang et al. (2005) reported 13 affected individuals in a large Caucasian family with RP17. Reduction in night and peripheral vision manifested at around age 15, followed by rod photoreceptor atrophy, bone spicule pigmentation, and concomitant cone photoreceptor dysfunction manifested by photophobia, color vision changes, and decreased central vision. ERG demonstrated reduction of both rod and cone responses. Genealogic records indicated that this family was an offshoot of the South African family reported by Bardien et al. (1995).
- Retinitis Pigmentosa 75 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-75 (RP75) is caused by homozygous mutation in the AGBL5 gene (615900) on chromosome 2p23. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Kastner et al. (2015) studied a consanguineous Turkish family in which 2 sisters and a brother had retinitis pigmentosa with onset between 7 and 12 years of age. All 3 exhibited tunnel vision and night blindness; other features included myopia in 1 sister and mixed astigmatism in the brother. Fundus examination revealed bone spicule pigmentation, attenuation of retinal vessels, and waxy pallor of the optic disc.
- Retinitis Pigmentosa 83 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-83 (RP83) is caused by heterozygous mutation in the ARL3 gene (604695) on chromosome 10q24. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Description Retinitis pigmentosa-83 (RP83) is characterized by onset of night blindness in the first decade of life, with decreased central vision in the second decade of life in association with retinal degeneration. The retinal dystrophy is associated with cataract, and macular edema has also been reported in some patients (Holtan et al., 2019). Clinical Features Strom et al. (2016) reported a mother and her son and daughter (pedigree RP02) with retinitis pigmentosa.
- Retinitis Pigmentosa 80 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa 80 (RP80) is caused by homozygous or compound heterozygous mutation in the IFT140 gene (614620) on chromosome 16p13. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Xu et al. (2015) studied a 43-year-old Han Chinese man who developed night blindness in childhood and vision loss at age 36 years. Fundus images showed widespread retinal bone spicule pigmentation with a 'gold foil' macular reflex. Ocular coherence tomography (OCT) revealed loss of inner and outer segment photoreceptor cells.
- Retinopathy, Pericentral Pigmentary, Autosomal Recessive OMIM
  
  Traboulsi et al. (1988) described a brother and sister, born to parents related as third cousins, who had pigmentary retinopathy in a pericentral distribution. The retinopathy was noted in infancy when the sibs were examined for strabismus. The optic discs, maculae, and retinal vessels were normal. Both sibs had moderate hyperopic astigmatism and esotropia. The fundus and visual acuity remained unchanged for 9 and 13 years in the brother and sister, respectively. Results of eye examinations in the father, mother, and older sister were normal.
- Retinitis Pigmentosa 68 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-68 (RP68) is caused by homozygous or compound heterozygous mutation in the SLC7A14 gene (615720) on chromosome 3q26. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Jin et al. (2014) studied a Chinese man, born of first-cousin parents, who in childhood developed night blindness and a visual field defect. Visual acuity in both eyes progressively decreased to hand motion only by 35 years of age. Fundus photography and optical coherence tomography (OCT) revealed typical intraretinal bone-spicule pigmentation, large spots of retinal atrophy, and overall thinning of the outer retinal layer.
- Cone-Rod Dystrophy 16 OMIM
  
  Rahner et al. (2016) reported 2 sisters of Moroccan origin who had CORD with postaxial polydactyly but no other features of BBS. Impaired vision was first noted at 5 to 6 years of age, and ERGs in the second decade of life showed absent cone response with markedly reduced rod response.
- Retinitis Pigmentosa 42 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-42 (RP42) is caused by heterozygous mutation in the KLHL7 gene (611119) on chromosome 7p15. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Andreasson (1991) studied 26 affected and 6 unaffected members of 4 families from central Norway and Sweden segregating autosomal dominant retinitis pigmentosa. Although fundus examination was similar in patients from all 4 families, showing narrowed vessels and bone spicule pigment, 2 different types of RP could be distinguished by electroretinography (ERG) based on cone b-wave implicit times, which were normal in 1 family ('family 59') but prolonged in the other 3 families. ERG recordings from 10 RP patients in different age groups from a 6-generation family ('family 72') revealed that cone b-wave amplitude decreased with age but implicit time did not, suggesting that amplitude is useful for monitoring the progression of disease whereas implicit time is more suitable for distinguishing different types of disease.
- Leber Congenital Amaurosis 13 OMIM
  
  A number sign (#) is used with this entry because Leber congenital amaurosis-13 (LCA13) is caused by homozygous or compound heterozygous mutation in the photoreceptor-specific retinal dehydrogenase gene RDH12 (608830) on chromosome 14q24. Heterozygous or homozygous mutation in RDH12 has also been shown to cause a form of retinitis pigmentosa (RP53). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see 204000; for retinitis pigmentosa, see 268000. Clinical Features Janecke et al. (2004) reported 3 consanguineous Austrian kindreds segregating Leber congenital amaurosis. Affected individuals in these families, as well as 2 Austrian individuals with sporadic LCA and 3 non-Austrian individuals with LCA, carried mutations in the RDH12 gene (see MOLECULAR GENETICS).
- Retinitis Pigmentosa 59 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-59 (RP59) is caused by homozygous mutation in the DHDDS gene (608172) on chromosome 1p36. Congenital disorder of glycosylation type Ibb (CDG1BB) can be caused by compound heterozygous mutation in the DHDDs gene. One such patient has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000; for congenital disorder of glycosylation, see 212065. Clinical Features Zuchner et al. (2011) studied an Ashkenazi Jewish family in which 3 of 4 sibs were diagnosed with retinitis pigmentosa (RP) in their teenage years. Early symptoms consisted of impaired night and peripheral vision. Clinical examination of the affected individuals revealed pigmentary retinal degeneration, and the diagnosis of RP was confirmed by rod and cone responses on electroretinograms (ERGs).
- Retinitis Pigmentosa 85 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-85 (RP85) is caused by homozygous mutation in the AHR gene (600253) on chromosome 7p21. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Zhou et al. (2018) studied 2 distantly related Indian boys with retinitis pigmentosa, aged 8 years (RD-ICP-79) and 10 years (RD-ICP-78), from a large consanguineous family. Both boys reported early-onset progressive difficulty with night vision and gradually decreasing visual acuity bilaterally. Typical features of RP were observed in both patients, with fundi showing pigment deposits and a pale retina.
- Retinitis Pigmentosa 41 OMIM
  
  A number sign (#) is used with this entry because of evidence that autosomal recessive retinitis pigmentosa-41 (RP41) is caused by homozygous mutation in the PROM1 gene (604365) on chromosome 4p15. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Maw et al. (2000) reported a consanguineous Indian family in which 4 of 8 sibs had night blindness and loss of peripheral vision from childhood with progression to profound visual impairment and extinguished electroretinograms (ERG) by their third decade. Fundus examination revealed narrowed arteries, optic disc pallor, pigment deposits, and macular degeneration. One sister also had polydactyly on one foot. Polydactyly and retinal degeneration are manifestations of Bardet-Biedl syndrome (see 209900); however, the authors stated that none of the other manifestations of that disorder were present in this family.
- Retinitis Pigmentosa 31 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-31 (RP31) is caused by heterozygous mutation in the gene encoding topoisomerase I-binding arginine/serine-rich protein (TOPORS; 609507) on chromosome 9p21. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Papaioannou et al. (2005) examined 14 members of a French Canadian family segregating early-onset retinitis pigmentosa in an autosomal dominant fashion. Onset of symptoms ranged from 10 to 50 years of age and differed between the generations. Visual acuities were well maintained in most patients, with 13 of 14 having better than 20/40 and 9 of 14 having 20/20 acuities at their last examination.
- Retinitis Pigmentosa 40 OMIM
  
  A number sign (#) is used with this entry because retinitis pigmentosa-40 (RP40) is caused by homozygous or compound heterozygous mutation in the PDE6B gene (180072), encoding the beta subunit of rod phosphodiesterase, on chromosome 4p16. Mutations in the PDE6B gene also cause congenital stationary night blindness (CSNBAD2; 163500). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features McLaughlin et al. (1993) identified 6 patients from 3 families with autosomal recessive retinitis pigmentosa (RP) and mutations in the PDE6B gene. All affected individuals had clinical findings typical of RP. They reported absent night vision from early childhood.
- Retinal Dystrophy And Obesity OMIM
  
  A number sign (#) is used with this entry because of evidence that retinal dystrophy and obesity (RDOB) is caused by homozygous mutation in the TUB gene (601197) on chromosome 11p15. One such family has been reported. Clinical Features Borman et al. (2014) studied a consanguineous Caucasian family from the United Kingdom in which 3 sibs had retinal dystrophy and obesity. The proband was an 18-year-old male who presented at age 11 with a 2-year history of deteriorating vision, at which time he had no perception of light in the left eye and decreased visual acuity (20/40) in the right eye. Examination revealed a bilateral myopic and astigmatic refractive error, with a 'blonde' fundus on the right and total retinal detachment with vitreous hemorrhage on the left. At 18 years of age, visual acuity was measured at 20/30 on the right with no light perception on the left, and bilateral myopic and astigmatic refractive errors were confirmed.
- Retinitis Pigmentosa 70 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-70 (RP70) is caused by heterozygous mutation in the PRPF4 gene (607795) on chromosome 9q32. For a general phenotypic description and discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Chen et al. (2014) reported a 3-generation Chinese family segregating autosomal dominant retinitis pigmentosa (RP). The proband presented at age 15 years with poor night vision, and subsequently developed visual field (VF) restriction and impaired central vision. At age 58, he had bilateral cataracts and a typical RP fundus, exhibiting retinal degeneration with macular involvement, waxy pallor of the optic disc, narrowed vasculature, and peripheral pigment deposits.
- Retinitis Pigmentosa 6 OMIM
  
  For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Mapping Two separate loci for X-linked recessive retinitis pigmentosa have been mapped to the short arm of the X chromosome, RP2 at Xp11.4-p11.23 (312600) and RP3 at Xp21.1 (300029). On the basis of different linkage relationships, it has been suggested that there is a third RP locus on Xp, designated RP6 and thought to be located at Xp21.3-p21.2. Ott et al. (1990) performed a multilocus linkage analysis of 62 family pedigrees with X-linked RP. In 60 to 75% of the families, location of an XLRP gene was estimated at 1 cM distal to OTC, and in 25 to 40% of the families, an XLRP locus was located halfway between DXS14 (p58-1) and DXZ1 (Xcen), with an estimated recombination fraction of 25% between the 2 XLRP loci.
- Retinitis Pigmentosa 18 OMIM
  
  A number sign (#) is used with this entry due to evidence that this form of retinitis pigmentosa, designated RP18, is caused by heterozygous mutation in the PRPF3 gene (607301) on chromosome 1q21. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Xu et al. (1996) studied a large Danish family of 7 generations in which autosomal dominant retinitis pigmentosa segregated. Clinical diagnosis was based on a history of night blindness and ocular fundus findings typical of retinitis pigmentosa and included peripheral bone spicule formation, severe constriction of retinal arterioles, and progressive visual field defects beginning as midperipheral ring scotomas. Pathologic dark adaptation did not occur until the end of the first decade.
- Retinitis Pigmentosa 11 OMIM
  
  A number sign (#) is used with this entry because retinitis pigmentosa-11 (RP11) is caused by heterozygous mutation in the PRPF31 gene (606419) on chromosome 19q13. Description Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment. For a discussion of genetic heterogeneity of RP, see 268000. Clinical Features Moore et al. (1993) described 4 families with autosomal dominant retinitis pigmentosa. Of the 15 patients who were studied from 3 of the families (families 1, 3, and 4), 14 had early onset of night blindness, 10 before age 10 years and 4 before age 20 years, and evidence of severe disease. Patients in all families showed typical fundus features of RP. The majority also had posterior subcapsular lens opacities, macular edema, and/or macular atrophy.
- Retinitis Pigmentosa 14 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-14 (RP14) is caused by homozygous or compound heterozygous mutation in the TULP1 gene (602280) on chromosome 6p21. Mutation in TULP1 can also cause a form of Leber congenital amaurosis (LCA15; 613843) as well as juvenile retinitis pigmentosa (see 613843). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa and juvenile RP, see 268000. Mapping In a large pedigree from the Dominican Republic showing segregation for autosomal recessive retinitis pigmentosa, Knowles et al. (1994) demonstrated linkage to microsatellite markers on 6p. The results of 2-point and multipoint analyses suggested that the most likely location of the disease gene is near D6S291, which is located approximately 20 cM telomeric of the photoreceptor peripherin locus (PRPH2; 179605).
- Retinitis Pigmentosa Orphanet
  
  Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. Epidemiology Prevalence of RP is reported to be 1/3,000 to 1/5,000. No ethnic specificities have been reported although founder effects are possible. Clinical description Retinitis pigmentosa is slowly progressive but relentless. There is however broad variability in age of onset, rate of progression and secondary clinical manifestations. Affected individuals generally first develop night blindness (nyctalopia) due to loss of rod function, often in adolescence or earlier.
Nijmegen Breakage Syndrome OMIM

Ataxia-telangiectasia variant-1 is the designation applied to the Nijmegen breakage syndrome and AT variant-2 is the designation for the Berlin breakage syndrome, which differ only in complementation studies. Cells from NBS/BBS patients are hypersensitive to ionizing radiation with cytogenetic features indistinguishable from those of ataxia-telangiectasia (AT; 208900), but NBS/BBS patients have a distinct clinical phenotype. ... Saar et al. (1997) performed a whole-genome screen in 14 NBS/BBS families and localized the causative gene to a 1-cM interval on 8q21, between markers D8S271 and D8S270, with a peak lod score of 6.86 at D8S1811. This marker also showed strong allelic association to both Slavic NBS and German BBS patients, suggesting the existence of one major mutation of Slavic origin. The authors stated that since the same allele is seen in both complementation groups, genetic homogeneity of NBS/BBS can be considered as proved. Matsuura et al. (1997) used microcell-mediated chromosome transfer followed by complementation assays based on radiosensitivity to demonstrate that only chromosome 8 complements the sensitivity to ionizing radiation in NBS cell lines.

NBN, TP53, MRE11, ATM, NLRP2, RAD50, NME1, MKKS, BRCA1, LIG4, MYC, PTEN, PARP1, XRCC1, XRCC3, SIRT1, TMED3, UBASH3B, BBS12, MDM2, H3P22, XRCC6, ANXA6, ATR, BBS1, MS4A1, IKZF1, TBPL1, POLQ, KLF4, BBS4, SLC12A9, BBS2, CBX5, RAD54B, IFT172, PHGDH, HCAR1, KRT20, BBS7, IGF1, MRPL36, MIB1, CDKN1A, MCPH1, LIN28A, BBS10, NHEJ1, NANOG, BRIP1, ARL6, ARID5B, TTC8, PEG13, XRCC6P5, POU5F1P3, POU5F1P4, SMC1A, CDKN2A, IGF1R, KMT2A, PECAM1, PDGFRB, TNFRSF11B, FANCD2, FANCB, FANCF, H2AX, PIK3CB, IDH1, LCK, KPNA2, IL18, IL5, IL2, PIK3CA, PIK3CD, COL11A2, TERF2, XPC, VEGFA, TRH, ELANE, TMPRSS2, TERT, TERF1, PIK3CG, AFP, SOX2, RAD52, ERG, POU5F1, POLH, TRBV20OR9-2
- Nijmegen Breakage Syndrome GeneReviews
  
  Summary Clinical characteristics. Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, intrauterine growth retardation and short stature, recurrent sinopulmonary infections, an increased risk for cancer, and premature ovarian failure in females. Developmental milestones are attained at the usual time during the first year; however, borderline delays in development and hyperactivity may be observed in early childhood. Intellectual abilities tend to decline over time and most children tested after age seven years have mild to moderate intellectual disability. Recurrent pneumonia and bronchitis may result in respiratory failure and early death. Approximately 40% of affected individuals have developed malignancies before age 20 years, with the risk being highest for T-cell (55%) and B-cell lymphomas (45%).
- Nijmegen Breakage Syndrome Orphanet
  
  Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. Epidemiology Prevalence and incidence are not known. 150 patients have been reported in the literature but many more are recorded in patient registries. The disease seems to occur worldwide, but has a much higher prevalence among Central and Eastern European Slavic populations due to a founder mutation. Clinical description Clinical manifestations are not pathognomonic and may vary in severity. The main signs are microcephaly, present at birth and progressing with age, dysmorphic facial features (prominent midface emphasized by a sloping forehead and receding mandible).
- Nijmegen Breakage Syndrome MedlinePlus
  
  Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly ), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems. People with this condition typically grow slowly during infancy and early childhood. After this period of slow growth, affected individuals grow at a normal rate but remain shorter than their peers. Microcephaly is apparent from birth in the majority of affected individuals. The head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly).
- Nijmegen Breakage Syndrome Wikipedia
  
  "Berlin Syndrome" redirects here. For the film, see Berlin Syndrome (film) . Nijmegen breakage syndrome Other names Berlin breakage syndrome , Ataxia telangiectasia variant 1 and Seemanova syndrome , [1] Nijmegen breakage syndrome has an autosomal recessive pattern of inheritance Specialty Endocrinology Nijmegen breakage syndrome ( NBS ), is a rare autosomal recessive [2] congenital disorder causing chromosomal instability, probably as a result of a defect in the double Holliday junction DNA repair mechanism and/or the synthesis dependent strand annealing mechanism for repairing double strand breaks in DNA (see Homologous recombination ). [3] NBS1 codes for a protein ( nibrin ) that has two major functions: (1) to stop the cell cycle in the S phase, when there are errors in the cell DNA (2) to interact with FANCD2 that can activate the BRCA1/BRCA2 pathway of DNA repair. This explains why mutations in the NBS1 gene lead to higher levels of cancer (see Fanconi anemia , Cockayne syndrome .) The name derives from the Dutch city Nijmegen , where the condition was first described. [4] Most people with NBS have West Slavic origins . The largest number of them live in Poland . Contents 1 Presentation 2 Cause 3 Diagnosis 4 Treatment 5 Prognosis 6 References 7 External links Presentation [ edit ] It is characterized by microcephaly , a distinct facial appearance, short stature, immunodeficiency , radiation sensitivity and a strong predisposition to lymphoid malignancy. [5] [6] NBS is caused by a mutation in the NBS1 gene.
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome OMIM

The phenotype was similar to Bardet-Biedl syndrome (BBS; 209900) and Cohen syndrome (COH1; 216550) but could be distinguished by the age of onset and nonprogressive nature of the visual impairment, and the lack of several characteristics, including dysmorphic facies, skin or gingival infection, microcephaly, 'mottled retina,' polydactyly, and testicular anomalies.

INPP5E, BBS5
- Morm Syndrome Wikipedia
  
  MORM syndrome Other names Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome, Mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome The image shows chromosome 9. The location of the INPP5E gene has been identified in this image and is relevant as it has been associated with MORM syndrome. The gene is located on the Q or long arm of chromosome 9 and is located near 9q34.3. MORM syndrome is an autosomal recessive congenital disorder [1] characterized by mental retardation , truncal obesity, retinal dystrophy , and micropenis ". [1] The disorder shares similar characteristics with Bardet–Biedl syndrome and Cohen syndrome , both of which are autosomal recessive genetic disorders. [1] [2] MORM syndrome can be distinguished from the above disorders because symptoms appear at a young age. [1] The disorder is not dependent on sex of the offspring, both male and female offspring are equally likely to inherit the disorder. The syndrome is caused by a mutation in the INPP5E gene which can be located on chromosome 9 in humans. [3] Further mapping resulted in the identification of a MORM syndrome locus on chromosome 9q34.3 between the genetic markers D9S158 and D9S905. [4] Contents 1 Presentation 2 Genetic 3 Diagnosis 4 Management 5 References 6 External links Presentation [ edit ] For individuals with MORM syndrome, symptoms do not appear until about one year of age. [1] From conception to birth, individuals with MORM syndrome appear asymptotic, with no abnormal characteristics. [1] Vision is negatively affected within the first year of life, particularly night vision. [1] Individuals with MORM syndrome experience decreased visual acuity , meaning their ability to see distinct sharp lines decreases. [1] [5] Vision quality continues to deteriorate until age three. [1] Any further reduction in vision acuity is not observed until the individual is between the ages thirty to forty. [1] Delayed sentence processing and intellectual disability is associated with individuals with MORM syndrome, primarily observed at age four. [1] Individuals continue to develop and grow until they are five to twelve years old.
- Morm Syndrome Orphanet
  
  A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life.
Martorell's Ulcer Wikipedia

"Topical Treatment of Hypertensive Leg Ulcers With Platelet-Derived Growth Factor-BB A Randomized Controlled Trial" . Archives of Dermatology . 147 (8): 926–930. doi : 10.1001/archdermatol.2011.84 .
Meckel Syndrome, Type 1 OMIM

Karmous-Benailly et al. (2005) speculated that fetuses with an antenatal diagnosis of Meckel or 'Meckel-like' syndrome (see 208540), because of the presence of cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele, might be instances of Bardet-Biedl syndrome (BBS; 209900). They sequenced the 8 BBS genes in a series of 13 such cases. In 6, they identified a recessive mutation in a BBS gene: 3 in BBS2 (606151), 2 in BBS4 (600374), and 1 in BBS6 (604896). ... The results indicated that the antenatal presentation of BBS may mimic Meckel syndrome. Inheritance Numerous examples of affected sibs, concordance in presumedly monozygotic twins (Stockard, 1921), roughly equal occurrence in males and females, and parental consanguinity in some instances (Tucker et al., 1966; Walbaum et al., 1967) make autosomal recessive inheritance quite certain.

TMEM67, CEP290, MKS1, CC2D2A, TMEM231, RPGRIP1L, B9D1, TCTN2, CSPP1, CEP55, WDPCP, TMEM216, RPGRIP1, TMEM107, B9D2, TXNDC15, EXOC3L2, EXOC4, EVC2, TMEM237, LPO, MARK4, TMEM138, KIAA0586, TCTN1, JBS
- Meckel Syndrome, Type 11 OMIM
  
  A number sign (#) is used with this entry because of evidence that Meckel syndrome type 11 (MKS11) is caused by homozygous mutation in the TMEM231 gene (614949) on chromosome 16q23. For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). Clinical Features Shaheen et al. (2013) reported a consanguineous Arab family in which 2 pregnancies were lost because of Meckel syndrome, which was diagnosed prenatally in both cases; 1 was spontaneously aborted, whereas the other was terminated. The second affected pregnancy was complicated by oligohydramnios; prenatal ultrasound showed occipital encephalocele, polydactyly, and polycystic kidney. An unrelated fetus of Arab origin with a similar phenotype was also reported.
- Cerebrorenodigital Syndrome With Limb Malformations And Triradiate Acetabula OMIM
  
  Franceschini et al. (2004) observed 2 male sibs with features suggestive of Meckel syndrome (see MKS; 249000), including occipital encephalocele, polycystic kidneys, and polydactyly, but who also had short, incurved distal long bones and triradiate acetabula. The latter feature had not previously been reported in MKS, nor had it been seen with occipital encephalocele. Franceschini et al. (2004) noted that although short and bowed limbs are seen in about 15% of MKS cases (Majewski et al., 1983), the severity, bilaterality, and absolute symmetry of lower limb malformations in both sibs and the association with triradiate acetabula suggested a distinct syndrome.
- Meckel Syndrome 13 OMIM
  
  A number sign (#) is used with this entry because of evidence that Meckel syndrome-13 (MKS13) and Joubert syndrome-29 (JBTS29) are caused by homozygous or compound heterozygous mutation in the TMEM107 gene (616183) on chromosome 17p13. One patient with JBTS29 has been reported. Mutation in the TMEM107 gene can also cause OFD16 (617563). For discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). Clinical Features Shaheen et al. (2015) reported 2 unrelated consanguineous Saudi families in which 4 infants had MKS.
- Meckel Syndrome, Type 3 OMIM
  
  A number sign (#) is used with this entry because of evidence that Meckel syndrome type 3 (MKS3) is caused by homozygous or compound heterozygous mutation in the TMEM67 gene (609884) on chromosome 8q22. Description Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006). For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (249000). Clinical Features Morgan et al. (2002) stated that comparison of the clinical features of MKS3-linked cases with reports of MKS1- and MKS2 (603194)-linked kindreds suggested that polydactyly, and possibly encephalocele, are less common in MKS3-linked families. Consugar et al. (2007) observed that polydactyly and occipital encephalocele were less common in MKS3 compared to MKS1.
- Meckel Syndrome, Type 2 OMIM
  
  A number sign (#) is used with this entry because of evidence that Meckel syndrome type 2 (MKS2) is caused by homozygous mutation in the TMEM216 gene (613277) on chromosome 11q12. Mutation in the TMEM216 gene also causes Joubert syndrome type 2 (JBTS2; 608091). Description Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (249000). Clinical Features Valente et al. (2010) reported 3 fetuses from 2 Tunisian families with Meckel syndrome-2.
- Meckel Syndrome Orphanet
  
  Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. Epidemiology Prevalence is estimated at 1/50,000 births in Europe. Worldwide prevalence is reported to be 1/13,250 to 1/140,000 live births. The live-birth prevalence is significantly higher in the Finnish population (1/9,000), Belgian and Kuwaiti Bedouin populations (1/3,500), and Gujarati Indians (1/1,300). No gender or ethnic predilection is reported. Clinical description Fetuses affected by MKS survive only a few days to a few weeks at the most, or die in utero . The main CNS features include occipital encephalocele, hydrocephalus, anencephaly, holoprosencephaly, as well as Dandy-Walker.
- Meckel Syndrome GARD
  
  Meckel syndrome is a very severe disorder that is characterized by multiple cysts on the kidneys, protrusion of a portion of the brain through an opening in the skull (occipital encephalocele), and extra fingers or toes (polydactyly). Affected children may also have abnormalities affecting the head and face, liver, lungs, genitals, and urinary tract. Because of these serious health problems, most infants with Meckel syndrome do not survive for long after birth. Meckel syndrome is caused by mutations in one of eight genes, and it is inherited in an autosomal-recessive manner.
- Meckel Syndrome, Type 9 OMIM
  
  A number sign (#) is used with this entry because of evidence that Meckel syndrome-9 (MKS9) can be caused by compound heterozygous mutation in the B9D1 gene (614144) on chromosome 17p11.2. One such family has been reported. Description Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by Hopp et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). Clinical Features Hopp et al. (2011) reported a fetus with Meckel syndrome who was found by ultrasound at 13 weeks' gestation to have posterior encephalocele and abnormal posterior fossa, bilaterally enlarged multicystic dysplastic kidneys, and no bladder. Polydactyly was not noted, but the fetus had bilateral clubfeet and shortened limbs.
- Meckel Syndrome, Type 5 OMIM
  
  A number sign (#) is used with this entry because Meckel syndrome type 5 (MKS5) is caused by homozygous or compound heterozygous mutation in the RPGRIP1L gene (610937) on chromosome 16q12. For a general description of Meckel syndrome, see MKS1 (249000). See also Joubert syndrome-7 (JBTS7; 611560), an allelic disorder with a less severe phenotype. Clinical Features Delous et al. (2007) reported 3 fetuses with Meckel syndrome diagnosed at 15 to 16 weeks' gestation by ultrasound. Two were sibs of Moroccan origin. Ultrasound and post-termination examination showed anencephaly, occipital encephalocele, postaxial polydactyly, cleft lip and palate, microphthalmia, severe cystic kidney disease, and hepatic bile duct proliferation, and bowing of the long bones. Molecular Genetics In 3 fetuses with Meckel syndrome type 5, Delous et al. (2007) identified homozygous or compound heterozygous truncating mutations in the RPGRIP1L gene (610937.0005-610937.0007) that all resulted in complete loss of protein function.
- Meckel Syndrome, Type 8 OMIM
  
  A number sign (#) is used with this entry because of evidence that Meckel syndrome-8 (MKS8) is caused by homozygous mutation in the TCTN2 gene (613846) on chromosome 12q24.31. One such family has been reported. Description Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). Clinical Features Shaheen et al. (2011) described a multiplex consanguineous Saudi family in which 5 individuals had Meckel-Gruber syndrome defined as the presence of encephalocele and any of the following: biliary ductal dysplasia, renal dysplasia, or polydactyly.
- Meckel Syndrome, Type 4 OMIM
  
  A number sign (#) is used with this entry because of evidence that Meckel syndrome type 4 (MKS4) is caused by homozygous or compound heterozygous mutation in the CEP290 gene (610142) on chromosome 12q21. Description Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007). For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (249000). Clinical Features Frank et al. (2008) reported a consanguineous family of Kosovar Albanian origin in which 2 male fetuses were found to have ultrasonographic features of Meckel syndrome. Both pregnancies were terminated. Postmortem examination showed enlarged cystic dysplastic kidneys, hepatobiliary ductal plate malformation, postaxial polydactyly, and occipital meningoencephalocele with massively malformed brain.
- Meckel Syndrome, Type 6 OMIM
  
  A number sign (#) is used with this entry because Meckel syndrome type 6 (MKS6) is caused by homozygous mutation in the CC2D2A gene (612013) on chromosome 4p15. For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). Clinical Features Tallila et al. (2008) reported the clinical features of probands from 11 Finnish families with Meckel syndrome. All fetuses had occipital encephalocele and large cystic kidneys. Most also had polydactyly of the hands and feet, clubfeet, fibrotic or cystic changes in the liver, and hypoplastic lungs. Less common features included cleft lip/palate, anencephaly, and gonadal abnormalities.
Osteopetrosis, Autosomal Dominant 2 OMIM

Biochemical Features Yoneyama et al. (1989) found elevated creatine kinase of the so-called BB type (CKB; 123280) in 3 adults with osteopetrosis. Yoneyama et al. (1992) demonstrated marked elevation of BB isozyme fraction of serum creatine kinase for male sibs with this disorder. ... Individuals with autosomal dominant osteoporosis type II (OPTA2) have elevated serum levels of tartrate-resistant acid phosphatase (TRAP; 171640) and the BB isoenzyme of creatine kinase (CKBB).

CLCN7, TNFSF11, FERMT3, IFNG
- Albers-Schönberg Osteopetrosis Orphanet
  
  A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). Epidemiology The prevalence is estimated to be 1/20,000. Clinical description Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. Cranial nerve compression is a rare but important complication, with hearing and visual loss affecting around 5% of individuals. Moderate bone marrow failure is described occasionally. Etiology The disease is caused by heterozygous mutations in the chloride channel 7 ( ClCN7 ) gene (16p13).
Embolic Stroke Of Undetermined Source Wikipedia

. ^ a b Adams HP, Bendixen BH, Kappelle LJ, Biller J, Love BB, Gordon DL, Marsh EE (January 1993). ... PMID 22498329 . ^ Gupta A, Gialdini G, Lerario MP, Baradaran H, Giambrone A, Navi BB, et al. (June 2015). "Magnetic resonance angiography detection of abnormal carotid artery plaque in patients with cryptogenic stroke" .

F10, ARSA, CD55, SERPINA5