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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.
Pancreatic Neuroendocrine Tumor GARD

However in some cases, a pancreatic NET occurs outside of the pancreas. A NET arises from cells that produce hormones, so the tumor can also produce hormones. ... Pancreatic NETs are called either functional or nonfunctional. A functional pancreatic NET causes specific symptoms because it makes extra hormones, such as gastrin, insulin, or glucagon. ... Pancreatic NETs can be hard to diagnosis, often not identified until 5 to 10 years after they begin to grow. Most pancreatic NETs are not inherited and occur sporadically in people with no family history of NETs.

MEN1, PCSK1, ATM, BRCA2, C11orf65, IGF2, SST, TP53, CDKN2A, SLC6A2, MTOR, EPHB1, POMC, GH1, GCGR, DAXX, ELK3, KRT19, SSTR2, CHGA, SSTR5, UCHL1, FZD4, GCM2, DLGAP1, DCLK1, SSTR4, INA, STK11, EIF2AK3, TFE3, THBD, CXCR4, PAX8, TSC1, TTR, TYMS, VEGFA, ABO, CNPY2, MRGPRX4, GPR166P, VN1R17P, MIR196A1, GADL1, MRGPRX1, GPRC6A, OXER1, GPR119, GPR151, MRGPRX3, SEMA3A, AZIN2, ACCS, STK33, LGR6, ACSS2, MEG3, NEUROG3, LPAR3, LILRB1, PLA2G15, RET, SLC2A3, INSM1, GRN, FFAR1, GHRH, GAST, FGFR4, F3, EGFR, DHCR24, CSF1, CRH, CHGB, CD44, CCK, CALCA, VPS51, ATRX, ASS1, ASCL1, ANGPT2, HSF1, PDX1, SLC2A2, KIT, SLC2A1, SEA, SDHB, SDHA, AKT1, PYGM, PTH, PTEN, PPY, PTPA, PGR, PCYT1A, PCNA, NFKB1, NEUROD1, MUC1, SMAD4, STMN1, KRAS, H3P10
- Neuroendocrine Tumor Of Pancreas Orphanet
  
  Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms). Epidemiology Prevalence in the U.S. is estimated at 1/4,000-1/3,300 and 1/37,000 in Japan, but this is likely an underestimate due to a low detection rate. Clinical description PNETs, when functional, usually present in the 5th decade of life as various hypersecretion syndromes. These include insulinoma presenting with hyperinsulinemic hypoglycemia; glucagonoma with necrolytic migratory erythema, diabetes mellitus, and thomboembolisms; VIPoma with watery diarrhea, hypokalemia and or hypo/achlorhydia; SSoma with diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria; and ZES with severe peptic ulcer disease.
Neuroendocrine Tumor GARD

A neuroendocrine tumor (NET) is a rare type of tumor that arises from specialized body cells called neuroendocrine cells . ... Pancreatic neuroendocrine tumors (also called islet cell tumors) - NETs that typically arise in the pancreas, although they can occur outside the pancreas. A p heochromocytoma is another, rarer type of NET that usually develops in the adrenal gland , but can also arise in other parts of the body. ... Functional NETs produce a specific set of symptoms due to the production of excess hormones, while non-functional NETs generally do not cause specific symptoms. In many cases, a person has no symptoms until the tumor spreads to the liver and/or impairs the function of an organ or system. This can make NETs very hard to diagnose. The majority of NETs are not inherited and occur sporadically in people with no family history of NETs.

PRKAR1A, MEN1, CALCA, RUNX1T1, CDKN1B, CGA, CHGA, FN1, GAST, IGFBP3, PTH, RET, ADAM17, QRSL1, CDC73
- Endocrine Gland Neoplasm Wikipedia
  
  Endocrine gland neoplasm Specialty Oncology , endocrinology An endocrine gland neoplasm is a neoplasm affecting one or more glands of the endocrine system . Examples include: Adrenal tumor Pituitary adenoma The most common form is thyroid cancer . [1] Condition such as pancreatic cancer or ovarian cancer can be considered endocrine tumors, or classified under other systems. Pinealoma is often grouped with brain tumors because of its location. [ citation needed ] See also [ edit ] Multiple endocrine neoplasia References [ edit ] ^ "Thyroid cancer" . Archived from the original on 2007-12-20 . Retrieved 2007-12-22 . External links [ edit ] Classification D ICD - 10 : C73 - C75 D34 - D35 MeSH : D00470 v t e Overview of tumors , cancer and oncology Conditions Benign tumors Hyperplasia Cyst Pseudocyst Hamartoma Malignant progression Dysplasia Carcinoma in situ Cancer Metastasis Primary tumor Sentinel lymph node Topography Head and neck ( oral , nasopharyngeal ) Digestive system Respiratory system Bone Skin Blood Urogenital Nervous system Endocrine system Histology Carcinoma Sarcoma Blastoma Papilloma Adenoma Other Precancerous condition Paraneoplastic syndrome Staging / grading TNM Ann Arbor Prostate cancer staging Gleason grading system Dukes classification Carcinogenesis Cancer cell Carcinogen Tumor suppressor genes / oncogenes Clonally transmissible cancer Oncovirus Carcinogenic bacteria Misc. Research Index of oncology articles History Cancer pain Cancer and nausea v t e Tumours of endocrine glands Pancreas Pancreatic cancer Pancreatic neuroendocrine tumor α : Glucagonoma β : Insulinoma δ : Somatostatinoma G : Gastrinoma VIPoma Pituitary Pituitary adenoma : Prolactinoma ACTH-secreting pituitary adenoma GH-secreting pituitary adenoma Craniopharyngioma Pituicytoma Thyroid Thyroid cancer (malignant): epithelial-cell carcinoma Papillary Follicular / Hurthle cell Parafollicular cell Medullary Anaplastic Lymphoma Squamous-cell carcinoma Benign Thyroid adenoma Struma ovarii Adrenal tumor Cortex Adrenocortical adenoma Adrenocortical carcinoma Medulla Pheochromocytoma Neuroblastoma Paraganglioma Parathyroid Parathyroid neoplasm Adenoma Carcinoma Pineal gland Pinealoma Pinealoblastoma Pineocytoma MEN 1 2A 2B This article about a neoplasm is a stub .
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).
Neuroendocrine Tumor Wikipedia

H&E stain Specialty Endocrine oncology Neuroendocrine tumors ( NETs ) are neoplasms that arise from cells of the endocrine ( hormonal ) and nervous systems . ... G1 and G2 neuroendocrine neoplasms are called neuroendocrine tumors (NETs) – formerly called carcinoid tumours. ... Unsourced material may be challenged and removed. ( November 2015 ) ( Learn how and when to remove this template message ) NETs from a particular anatomical origin often show similar behavior as a group, such as the foregut (which conceptually includes pancreas, and even thymus, airway and lung NETs), midgut and hindgut ; individual tumors within these sites can differ from these group benchmarks: Foregut NETs are argentaffin negative. ... Bone metastasis is uncommon. Hindgut NETs are argentaffin negative and rarely secrete 5-HT, 5-HTP, or any other vasoactive peptides. ... Not all cells are immediately killed; cell death can go on for up to two years. [ citation needed ] PRRT was initially used for low grade NETs. It is also very useful in more aggressive NETs such as Grade 2 and 3 NETs [83] [84] provided they demonstrate high uptake on SSTR imaging to suggest benefit.

MEN1, CDKN1B, SSTR2, DAXX, ATRX, BRAF, TYMS, PTHLH, SSTR3, SSTR1, BAP1, MTOR, SST, GAST, SLC6A2, INSM1, CTNNB1, RET, PIK3CA, DNMT3A, POMC, EPHB1, PIK3CG, PIK3CD, CHGA, ELK3, CHEK2, PIK3CB, GRN, CD274, SMUG1, AKT1, GNA12, TP53, SYP, VEGFA, CDKN2A, ASCL1, BCL2, ENO2, NCAM1, GCG, MYCN, EGFR, MGMT, KIT, RASSF1, VHL, SCLC1, SSTR5, FOLH1, NKX2-1, KRAS, CALCA, CCND1, TAC1, PTPRF, VIP, NTS, PAX5, RHBDF2, GRP, IGF1, SDHD, GOT1, MAP2K7, CCK, ERBB2, DLL3, PPY, CXCL12, TP63, SMAD4, MUC1, INS, GCGR, CKAP4, NEUROD1, ISL1, MYC, NGF, SATB2, GLP1R, HSP90AA1, H3P10, HRAS, CHGB, CALR, NTRK1, TEK, DLK1, CDK4, CDX2, TGFA, UCHL1, RPE65, PGR, PDGFRA, CARTPT, CRH, UVRAG, SLC5A5, CXCR4, IGF1R, OTP, IL6, PHLDA3, TTF1, PAX8, TACR1, STK11, TRIM21, PLA2G15, SCG2, SQLE, SLC18A2, TERT, HDAC9, SLC2A1, PROM1, BCL2L11, NTSR1, PAX6, NAMPT, NOCT, INA, PLCB3, CD200, MKI67, PDX1, MAPK1, NES, HPSE, PTEN, STMN1, ABO, RIPK1, RORC, RAF1, IL1B, TRPV1, GATA3, ANGPT2, FOXM1, PTK2B, SDHAF2, ACCS, BDNF, EPAS1, EGF, ACSS2, MIB1, DNMT1, CCN2, TRPM8, CLDN4, CPE, CD34, CD44, FLNA, CEACAM5, B3GAT1, GH1, GIP, GHSR, GIPR, ADCY2, ALB, H3P28, TPPP2, H4C5, GGH, MIR1290, TMEM209, ELOA3, H4C13, H4C14, GPR151, SRPX, LGR5, TNFSF11, PSMG1, DCBLD2, H4-16, NRP1, MRGPRX4, SOCS1, H4C2, MIR3137, MRGPRX3, TNFRSF25, H3P12, CYYR1, AZIN2, DNER, AK6, MLIP, LMLN, NRP2, GPR68, MIR1246, H4C8, MAFK, MIR150, MIR155, MBOAT4, H4C9, MIR21, POTEKP, VN1R17P, SNORD95, GPR166P, ARID1A, EID3, SLC7A5, MIR375, H4C15, FZD4, MIRLET7C, OXER1, H4C12, HMGA2, H4C3, ARX, ELOA3B, GPRC6A, H4C11, H4C6, C17orf97, POTEM, MRGPRX1, ARMH1, H4C1, GADL1, ACTBL2, H4C4, BRI3, SQSTM1, ISYNA1, GHRL, ACOT7, KLF12, KRT20, SLC27A4, TET2, BCOR, EBNA1BP2, RALBP1, PGRMC1, LAMTOR1, FBXW7, MEG3, MAML3, TMEM127, NTNG1, ATRAID, KHDRBS1, DCTN4, SNORD61, NUP62, SNORD48, NTSR2, LPAR3, MAPK8IP2, SRRM2, BRD4, TRAM1, SPINK4, XIST, PPWD1, RBMS3, SETD1B, ZHX2, TNFSF13B, USE1, MAK16, UBE2Z, ONECUT2, FHL5, GCM2, DCLK1, ZBED1, ARHGEF2, PALB2, ALG9, SNED1, TET1, PDCD1LG2, TMPRSS13, MTA1, RPAIN, H1-10, EEF1E1, LGR6, PRMT5, NEUROD4, YAP1, SCML2, LANCL1, PAK4, RABEPK, ZNF197, CTNNBL1, PNO1, INSL5, EPB41L5, HDAC5, AKT3, CD302, GBA3, DCAF1, ATAT1, SERPINA3, VCL, CGA, ESR1, ERBB4, EPHB2, E2F1, DUSP2, DSG3, DPT, DPP4, DMBT1, DDC, DAD1, VCAN, CREB1, CRABP1, KLF6, CLU, FOXN3, CEACAM7, CEACAM3, ESR2, ETFA, EZH2, GHRH, HSPA4, AGFG1, HMOX1, HMGA1, GTF2H1, GSN, GNAS, GNA15, GFRA1, F3, GDNF, FSHR, FLT4, FLII, FLI1, FOXO1, FHIT, FGFR4, CGB3, CFL1, UQCRFS1, CDKN2C, FAS, APRT, APLP1, XIAP, APC, SLC25A6, SLC25A4, ANGPT1, ALK, AKT2, AFP, PARP1, ADCYAP1R1, ADCYAP1, ACVRL1, ACTN4, ACTG2, ACTG1, ACR, AQP4, ARF1, ATM, CASP3, CDK6, CD40LG, CD36, CD33, CCNE1, CCKBR, SERPINA6, CAV1, CA9, ATOH1, VPS51, C5, BRS3, BRCA2, DST, BAX, AVP, ATP4A, HTC2, HTR2A, TNC, IAPP, SDC1, SCT, SORT1, RNASE3, RARB, PTPRZ1, PTPRM, PTBP1, PSMD7, PSG2, PRKAR1A, PPP4C, POU4F1, PNN, PKD2, PITX2, PCYT1A, SERPINA5, PAX4, SDCBP, SDHB, SDHC, ST2, UBE2I, TPM3, TPH1, TNF, TM7SF2, TERC, TAT, STAT3, SSTR4, SEMA3F, SSR2, SOX11, SOX4, SOX2, SLPI, SLC3A2, SLC1A5, SFRP1, PAK3, PAK1, TNFRSF11B, KIF11, MDK, MAOA, LCN2, RPSA, L1CAM, KRT19, KRT7, KRT5, IL12A, MET, IL9, CXCL8, IL2, IL1A, IGFBP1, IGF2, IFNA13, IFNA1, MDM2, MFAP1, ODC1, MUTYH, NTRK2, NT5E, NRAS, NOTCH3, NPY, NOTCH1, NFKB1, NEFM, MUC4, CD99, NUDT1, COX2, MTAP, MST1R, MST1, MSMB, MMP7, MLH1, PTPRC
- Neuroendocrine Tumors Mayo Clinic
  
  Overview Neuroendocrine tumors are cancers that begin in specialized cells called neuroendocrine cells. Neuroendocrine cells have traits similar to those of nerve cells and hormone-producing cells. Neuroendocrine tumors are rare and can occur anywhere in the body. Most neuroendocrine tumors occur in the lungs, appendix, small intestine, rectum and pancreas. There are many types of neuroendocrine tumors. Some grow slowly and some grow very quickly. Some neuroendocrine tumors produce excess hormones (functional neuroendocrine tumors).
Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Orphanet

A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.

SLC6A2, SLC12A2
- Orthostatic Intolerance Wikipedia
  
  Human disease Orthostatic intolerance ( OI ) is the development of symptoms when standing upright which are relieved when reclining . [1] There are many types of orthostatic intolerance. OI can be a subcategory of dysautonomia , a disorder of the autonomic nervous system [2] occurring when an individual stands up. [3] There is a substantial overlap between syndromes of orthostatic intolerance on the one hand, and either chronic fatigue syndrome (CFS) or fibromyalgia (FM) on the other. [4] It affects more women than men (female-to-male ratio is at least 4:1), usually under the age of 35. [5] Orthostatic intolerance occurs in humans because standing upright is a fundamental stressor and requires rapid and effective circulatory and neurologic compensations to maintain blood pressure , cerebral blood flow , and consciousness . When a human stands, approximately 750 mL of thoracic blood is abruptly translocated downward. People who suffer from OI lack the basic mechanisms to compensate for this deficit. [1] Changes in heart rate , blood pressure, and cerebral blood flow that produce OI may be caused by abnormalities in the interactions between blood volume control, the cardiovascular system , the nervous system and circulation control system . [6] Contents 1 Signs and symptoms 1.1 Acute OI 1.2 Chronic OI 2 Causes 3 Diagnosis 4 Management 5 Notable case 6 See also 7 References 8 External links Signs and symptoms [ edit ] Orthostatic intolerance is divided, roughly based on patient history, in two variants: acute and chronic . Acute OI [ edit ] Patients who suffer from acute OI usually manifest the disorder by a temporary loss of consciousness and posture , with rapid recovery (simple faints , or syncope ), as well as remaining conscious during their loss of posture.
- Postural Orthostatic Tachycardia Syndrome Wikipedia
  
  Not to be confused with Pott disease . Condition in which a change from lying to standing causes an abnormally large increase in heart rate Postural orthostatic tachycardia syndrome Other names Postural tachycardia syndrome (POTS) Specialty Cardiology , Neurology Symptoms More often with standing: lightheadedness , trouble thinking , tachycardia , weakness, [1] palpitations , heat intolerance , acrocyanosis Usual onset Most common (modal) age of onset is 14 years [2] Duration > 6 months [3] Causes Antibodies against the Alpha 1 adrenergic receptor [4] [5] [6] Risk factors Family history [1] Diagnostic method An increase in heart rate by 30 beats/min with standing [1] Differential diagnosis Dehydration , heart problems, adrenal insufficiency , epilepsy , parkinson disease [7] Treatment Avoiding factors that bring on symptoms, increasing dietary salt and water, compression stockings , exercise, medications [1] Medication Beta blockers , Ivabradine , midodrine , and fludrocortisone . [1] Prognosis ~90% improve with treatment, [8] 25% of patients unable to work [9] Frequency ~ 500,000 (US) [7] Postural orthostatic tachycardia syndrome ( POTS ) is a condition in which a change from lying to standing causes an abnormally large (or higher than normal) increase in heart beat rate . [1] This occurs with symptoms that may include lightheadedness , trouble thinking, blurred vision , or weakness. [1] Other commonly associated conditions include Ehlers–Danlos syndrome , mast cell activation syndrome , irritable bowel syndrome , insomnia , chronic headaches , chronic fatigue syndrome , and fibromyalgia . [1] Contents 1 Causation 2 Signs and symptoms 2.1 Brain fog 3 Causes 3.1 Autoimmunity 3.2 Secondary 4 COVID-19 5 Diagnosis 5.1 Diagnostic criteria 5.2 Autoantibodies against G-protein coupled receptor 5.3 Orthostatic intolerance 5.4 Differential diagnoses 6 Treatment 6.1 Medication 7 Prognosis 8 Epidemiology 9 History 10 Notable cases 11 References 12 Further reading 13 External links Causation [ edit ] The causes of POTS are varied. [10] Often, it begins after a viral infection, surgery, or pregnancy. [8] Risk factors include a family history of the condition. [1] Diagnosis in adults is based on an increase in heart rate of more than 30 beats per minute within ten minutes of standing up that is accompanied by symptoms. [1] Low blood pressure with standing , however, does not occur. [1] Other conditions which can cause similar symptoms, such as dehydration , heart problems, adrenal insufficiency , epilepsy , and parkinson disease , must not be present. [7] Treatment may include avoiding factors that bring on symptoms, increasing dietary salt and water, small and frequent meals, [11] avoidance of immobilization, [11] compression stockings , exercise program, and medications. [12] [13] [1] [14] Medications used may include beta blockers , [15] pyridostigmine , [16] midodrine [17] or fludrocortisone . [1] More than 50% of people whose condition was triggered by a viral infection get better within five years. [8] About 80% have symptomatic improvement with treatment, but 25 percent of patients are still unable to work. [9] [8] Retrospective studies has shown that five years after diagnosis 19% had a full resolution of symptom. [18] It is estimated that 500,000 people are affected in the United States. [19] The average age of onset is 20 years old, and it occurs about five times more frequently in females. [1] Signs and symptoms [ edit ] In adults the primary symptom is an increase in heart rate of more than 30 beats per minute within ten minutes of standing up. [1] [20] The resulting heart rate is typically more than 120 beats per minute. [1] For people aged between 12 and 19, the minimum increase for diagnosis is 40 beats per minute. [21] This symptom is known as orthostatic (upright) tachycardia (fast heart rate). It occurs without any coinciding drop in blood pressure, as that would indicate orthostatic hypotension . [20] Certain medications to treat POTS may cause orthostatic hypotension. It is accompanied by other features of orthostatic intolerance —symptoms that develop in an upright position and are relieved by reclining. [20] These orthostatic symptoms include palpitations , light-headedness , chest discomfort, shortness of breath , [20] nausea, weakness or "heaviness" in the lower legs, blurred vision , and cognitive difficulties. [1] Symptoms may be exacerbated with prolonged sitting, prolonged standing, alcohol, heat, exercise, or eating a large meal. [ citation needed ] In up to one third of people with POTS, [1] fainting occurs in response to postural changes or exercise. [22] Migraine -like headaches are common, sometimes with symptoms worsening in an upright position ( orthostatic headache ). [22] 40-50% of patients with POTS develop acrocyanosis of extremities, a reddish-purple color in the legs and/or hands when they stand (indicative of blood pooling). [23] [22] [24] 48% of people with POTS report chronic fatigue and 32% report sleep disturbances . [25] [26] [27] [28] Others exhibit only the cardinal symptom of orthostatic tachycardia. [22] Additional symptoms are varied, and may include excessive sweating, a lack of sweating, heat intolerance, digestive issues such as bloating, nausea, indigestion, constipation, and diarrhea, a flu-like feeling, coat-hanger pain, forgetfulness, brain fog, and presyncope . [29] Brain fog [ edit ] One of the most disabling and prevalent symptoms in POTS is " brain fog ", [30] a term used by patient to describe the cognitive difficulties they experience. In one survey of 138 POTS patients, brain fog was defined as “forgetful” (91%), “difficulty thinking” (89%), and “difficulty focusing” (88%). Other common description was "Difficulty processing what others say" (80%), Confusion (71%), Lost (64 %), and "Thoughts moving too quickly" (40%) [31] The same survey described the most common triggers of brain fog to be fatigue (91%), lack of sleep (90%), prolonged standing (87%) and dehydration (86%). [ citation needed ] Neuropsychological testing has shown that a POTS-patient has reduced attention (Ruff 2&7 speed and WAIS-III digits forward), short-term memory ( WAIS-III digits back), cognitive processing speed ( Symbol digits modalities test ) and executive function ( Stroop word color and trails B ). [32] [33] [34] A potential cause for brain fog is a decrease in cerebral blood flow (CBF), especially in upright position. [35] [36] [37] Another theory is that interoception of excessive autonomic activity causes interoceptive prediction errors (PE) to occur. [38] A prediction error is the mismatch between a prior expectation and reality. [39] This would cause anxiety which then overwhelms the consciousness of pots-patient causing cognitive-affective symptoms.
- Orthostatic Intolerance OMIM
  
  A number sign (#) is used with this entry because of evidence that orthostatic intolerance is caused by heterozygous mutation in the gene encoding the norepinephrine transporter (SLC6A2; 163970) on chromosome 16q12. One such family has been reported. Clinical Features Orthostatic intolerance is a syndrome characterized by adrenergic symptoms that occur when an upright posture is assumed: the heart rate increases by at least 30 beats per minute, without orthostatic hypotension (Jacob et al., 1997). Most patients with orthostatic intolerance are women between the ages of 20 and 50 years (Low et al., 1995). This syndrome, first described by Da Costa (1871), has been called soldiers heart (Fraser and Wilson, 1918), neurocirculatory asthenia (Wooley, 1976), and mitral valve prolapse syndrome (Boudoulas et al., 1980). It is similar in many respects to chronic fatigue syndrome (Schondorf and Freeman, 1999).
Neuroendocrine Neoplasm Of Esophagus Orphanet

A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. ... NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome.
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 .
Azotemia Wikipedia

Through unknown mechanisms, activation of the sympathetic nervous system leads to enhanced proximal tubular reabsorption of salt and water, as well as urea (BUN), calcium, uric acid, and bicarbonate. The net result of these 4 mechanisms of salt and water retention is decreased output and decreased urinary excretion of sodium (< 20 mEq/L). ... External links [ edit ] Classification D ICD - 10 : R79.8 ICD - 9-CM : 790.6 MeSH : D053099 DiseasesDB : 26060 v t e Clinical biochemistry blood tests Electrolytes Sodium Potassium Chloride Calcium Renal function Creatinine Urea BUN-to-creatinine ratio Plasma osmolality Serum osmolal gap Acid-base Anion gap Arterial blood gas Base excess Bicarbonate CO 2 content Lactate Iron tests Ferritin Serum iron Transferrin saturation Total iron-binding capacity Transferrin Transferrin receptor Hormones ACTH stimulation test Thyroid function tests Thyroid-stimulating hormone Metabolism Blood glucose Hemoglobin A1c Lipid panel LDL HDL Triglycerides Total cholesterol Basic metabolic panel Comprehensive metabolic panel Cardiovascular Cardiac marker Troponin test CPK-MB test Lactate dehydrogenase Myoglobin Glycogen phosphorylase isoenzyme BB Liver function tests Proteins Human serum albumin Serum total protein ALP transaminases ALT AST AST/ALT ratio GGT Bilirubin Unconjugated Conjugated Pancreas Amylase Lipase Pancreatic lipase Small molecules Blood sugar level Hypoglycemia Hyperglycemia Nitrogenous Azotemia Hyperuricemia Hypouricemia Proteins LFT Elevated transaminases Elevated ALP Hypoproteinemia Hypoalbuminemia Other Elevated alpha-fetoprotein

GH1, REN, COL4A3, AVPR2, ACE, LCN2, APOL1, BTBD8, MIR146A
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.
Familial Gastric Type 1 Neuroendocrine Tumor Orphanet

A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. ... Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis).
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
Malaria Wikipedia

The mosquitoes remain on the wall until they fall down dead on the floor. Insecticide treated nets [ edit ] A mosquito net in use. Mosquito nets help keep mosquitoes away from people and reduce infection rates and transmission of malaria. Nets are not a perfect barrier and are often treated with an insecticide designed to kill the mosquito before it has time to find a way past the net. Insecticide-treated nets are estimated to be twice as effective as untreated nets and offer greater than 70% protection compared with no net. [73] Between 2000 and 2008, the use of ITNs saved the lives of an estimated 250,000 infants in Sub-Saharan Africa. [74] About 13% of households in Sub-Saharan countries owned ITNs in 2007 [75] and 31% of African households were estimated to own at least one ITN in 2008. ... That number increased to 20.3 million (18.5%) African children using ITNs in 2007, leaving 89.6 million children unprotected [76] and to 68% African children using mosquito nets in 2015. [77] Most nets are impregnated with pyrethroids , a class of insecticides with low toxicity . ... According to the WHO and UNICEF, deaths attributable to malaria in 2015 were reduced by 60% [77] from a 2000 estimate of 985,000, largely due to the widespread use of insecticide-treated nets and artemisinin-based combination therapies. [74] In 2012, there were 207 million cases of malaria.

ICAM1, FCGR2B, HBB, CD36, NOS2, FCGR2A, TNF, CR1, G6PD, CRP, HP, ACKR1, GYPA, SLC4A1, GYPB, NCR3, TIRAP, GYPC, LTBR, CISH, IFNG, HMOX1, PKLR, ABO, ANK1, AQP4, ATP2B4, HBG2, CYTB, ENOSF1, MSMB, MST1, ZNF536, LINC00944, SMARCB1, DHODH, PDR, TREML4, ZNF804A, OR51F1, OR51B5, CDH13, PROCR, SPATA3, OR51N1P, DHFR, DDT, RECQL4, FAM155A, IGHG3, IL4, MMP26, IL6, IL10, TLR9, HLA-DRB1, CSMD1, HBE1, DNAJC5, TMPRSS13, KLHL3, HDGFL2, TLR4, ATAD1, LMLN, TENM3-AS1, MECP2, POMGNT2, MBL2, TFRC, TGFB1, MIF, HLA-B, HAMP, DHPS, SERPINA3, TLR2, IL1B, FOXP3, FHL5, ACOT7, POTEKP, POTEM, GEM, KIR3DL1, RN7SL263P, ACTG2, ACTG1, ACTB, ACTBL2, HBA2, CYP2B6, HSPA4, LSAMP, TRAP, FCGR3B, HSP90AA1, IL1A, LAMP3, CD81, OR10A4, CCL5, ABCB1, FAS, CD40LG, TEP1, CXCL8, IARS1, HLA-G, CTLA4, HBA1, INSRR, ANGPT2, TYMS, CFH, GSTP1, IFNAR1, AGT, GYPE, FCGR3A, TXN, IL13, HSPB3, APOE, MTCO2P12, ISYNA1, FCGR2C, FYB1, VDR, HLA-A, GSTM1, GSR, ATR, MBL3P, LAIR1, PNP, IL12B, MNAT1, IL1RN, CYP2D6, IGF1, CD55, ACHE, DECR1, COX2, IL3, CCL2, MAPK1, NLRP3, FBXW7, HAVCR2, THBD, VPS51, EMP1, ITGA2B, PTGS2, ANC, IL10RA, XPO1, VNN1, PLEK, UMPS, IL2, IL2RA, TPPP, VWF, ISG20, ADAMTS13, IRF1, IL7R, AIMP2, IL12RB1, CLEC11A, METAP2, CDK5R1, ING1, IL18R1, PGD, HAP1, H6PD, PRDX5, GRAP2, CXCL9, MMP9, MPO, TAP1, CCL4L2, COX1, EBI3, ITGAX, COX3, TLR6, CXCL11, MTHFR, NFKB2, NFYA, NOS1, TBC1D9, ORC1, MCF2, AKAP13, RNF19A, TLR7, NT5C3A, IRAK4, KIR2DS1, CCL4, KIR3DL2, ICOS, COQ2, PSIP1, PECAM1, TPT1, RNASE3, ARTN, TP53, POLDIP2, PDCD1, TLR1, AHSA1, UBL4A, AQP3, AGRP, H3C9P, CYP2C8, CYP2C19, GTF2H4, CRK, RNA18SN5, ANXA2, H3P37, CASP1, NANP, CCL4L1, MAPK14, CXCR3, GNAS, GLO1, FCN2, SMIM10L2B, FKBP4, CD27, FOXO3, RBM45, HM13, IL33, HK1, CCR5, IFNA13, IFNA1, H3P42, DNAJB1, CHIT1, CYP3A4, SMIM10L2A, EGF, CHI3L1, CAT, EPHA2, NSFL1C, ADRB2, MYMX, COX8A, GAPDH, ABCB6, NR1I3, TREML1, PUM3, FMN1, TICAM2, TRIM13, BMS1, FZD4, RABEPK, LANCL1, FUT9, TNFSF13B, DCTN6, CXCR6, ARL6IP5, MRGPRX1, ZNRD2, ASPM, KAT5, RAB7B, CIB1, SEMA3C, ARMH1, STING1, CFDP1, CPQ, MYLK4, DLC1, AKR1A1, PIEZO1, TMPRSS11D, HDAC9, CARTPT, DEFB4B, TIMELESS, SPHK1, TMED7-TICAM2, PSC, VNN2, PROM1, UPK3B, H3P23, H3P28, TNFRSF11A, TNFRSF18, TP63, PDXK, CNTNAP1, DHX16, STK24, H3P19, LOH19CR1, WASHC1, WASH6P, LPAR2, MIR146A, APOBEC3B, SPAG6, CLOCK, ATG5, MIR142, AIM2, ABCG2, PCSK9, MIR155, NCF1, PPIG, MIR29A, VN1R17P, GPR166P, CD163, MIR451A, CXADRP1, ARHGEF2, CERS1, SPINK5, MASP2, GEMIN4, ACD, TLR8, MPPE1, MCPH1, HSPA14, RNF34, TMED7, ARMC9, PPP1R2C, IL22, TRAF3IP2, A1CF, PDCD1LG2, SLC44A4, SGSM3, MCAT, HPGDS, B3GAT1, ROPN1L, PHGDH, RAB14, IL23A, ABCG4, IFIH1, CFC1, BTNL2, MARCHF1, POLE4, CMC2, TMED9, ACKR3, PDXP, RHOF, AICDA, POLD4, RBM25, TOLLIP, TREM1, LGR6, ADA2, BACH2, ERAP1, GOLPH3, PARS2, KRT88P, TRIM5, IL17RE, CHP1, GPR151, NRSN1, EIF5AL1, CD160, APCDD1, ERFE, OXER1, DNAJB1P1, DSTN, GPRC6A, CCNI, ADIRF, EBNA1BP2, TMED2, EHD1, RNPS1, HPSE, SEPTIN9, SCLT1, NT5C2, SLC25A21, LEO1, NLRP12, TIMD4, CDCA5, DBA2, CARD16, PTPMT1, CGAS, RAB39B, TADA1, MRGPRX3, MRGPRX4, PGLS, PANX1, SPO11, LPAR3, CBX5, POFUT2, SPPL3, NBEAL2, LUC7L, PTPRC, FGF23, EIF5, FLT3LG, FLT1, FECH, FBN2, FBN1, FANCD2, F3, EPO, ENO2, ADGRE1, ELK4, ELF4, EIF5A, EIF4G2, CXADR, EGR3, EDNRA, EDN1, S1PR3, RCAN1, ATN1, DNMT1, DEFB4A, DHX9, ACE, DBP, CYP1A2, CYC1, GABPA, GCHFR, GDF1, GPR42, IL4R, IL1R1, IGFBP1, IFNGR1, IFNB1, IFNA2, IFI27, IDE, HTN3, HSPA9, HSD11B1, HRES1, HPRT1, HPR, HPGD, HMGB1, HLA-DOA, UBE2K, HGF, SERPIND1, HBG1, GTF3A, GSTT1, GSN, GPX1, GPT, GRK5, CYBB, CTSL, IL9, ANXA1, C3, BSG, BRS3, BRCA2, PRDM1, BCL2, BAX, ASPA, ASIP, ARR3, NUDT2, ANXA7, ANXA4, ANPEP, CSH2, AMBP, ALOX5, ALB, AHR, AFP, ADSL, ADRA2B, ADRA1A, ADORA2A, ADH1B, ADA, ACP1, ACACA, CAST, CASR, CD1B, CD1C, CSH1, CSF1R, CSF1, CS, CRYZ, CREM, CR2, CLDN4, CPB1, CNTF, CCR4, CLU, ERCC8, CTSC, CEL, CDC25C, CD69, CD68, CD40, ENTPD1, CD34, CD28, CD19, CD14, CD9, CD1E, CD1D, IL5, IL12A, FOSL1, SELE, SPTA1, SPP1, SPINK1, SPG7, SOD3, SOD1, SMN1, SLC16A1, SLC11A1, SLC6A7, SLC2A1, SGCG, SET, SEA, ABCA1, SDC1, CXCL5, CCL22, CCL18, CCL3L1, CCL3, CCL1, SAFB, SORT1, RPS19, RBP2, RANBP2, PEX19, SSR2, SSTR4, DENND2B, STAT6, DDX39B, PRRC2A, PFBI, RAB7A, CXCR4, MOGS, ZBTB16, TRPV1, VCP, USP1, TYRP1, TTR, TTPA, TRPC1, TRP-AGG2-5, TPO, TPH1, TNFRSF1B, TLR3, TGFB2, TRBV20OR9-2, TCN2, HNF1A, TADA2A, ADAM17, TAC1, STK3, PTPRH, PTHLH, IL15, KIR3DS1, MAL, MAF, LTB, LTA, LMAN1, LEPR, LDLR, LCN2, LBR, RPSA, LAG3, KRT13, KNG1, KIR2DS5, PSMD9, KIR2DL3, KIR2DL2, KDR, KCNG1, KARS1, ITPA, ITGB2, ITGAM, ITGAL, CXCL10, IDO1, ILF3, IL18, MAP2, MAP6, MEFV, MVD, PSMD7, PSMD2, PSMB9, PSEN1, PSAP, PRSS1, PROC, MAP2K1, PRKG1, PRKAR1A, PPP1R1A, PPARG, SEPTIN4, PLP1, PGM1, PGAM1, P2RX7, SLC22A18, TNFRSF11B, OMD, ODC1, NOS3, NQO2, NFE2L2, NEK2, MYD88, MYC, H3P5
- Malaria, Susceptibility To OMIM
  
  A reduction in mortality greater than that attributable directly to malaria had been observed after the prevention of malaria by insecticides, chemoprophylaxis, and insecticide-impregnated bed nets. Previous observations that direct malaria mortality cannot account for observed hemoglobin S gene frequencies suggest that the findings of this study may apply equally to other malaria resistance genes. ... Although the relative strength of the protection is less than that of the sickle-cell variant, the greater frequency of the DQB1 (see HLA-DQB1; 604305) polymorphism makes the net effect on resistance to malaria comparable.
- Malaria Orphanet
  
  A life-threatening parasitic disease caused by Plasmodium ( P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.
- Malaria GARD
  
  Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly. Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.
- Malaria Mayo Clinic
  
  To reduce malaria infections, world health programs distribute preventive drugs and insecticide-treated bed nets to protect people from mosquito bites. The World Health Organization has recommended a malaria vaccine for use in children who live in countries with high numbers of malaria cases. Protective clothing, bed nets and insecticides can protect you while traveling. ... Sprays containing permethrin are safe to apply to clothing. Sleep under a net. Bed nets, particularly those treated with insecticides, such as permethrin, help prevent mosquito bites while you are sleeping.
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.