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Autosomal Recessive Intellectual Disability 58 GARD

Autosomal recessive intellectual disability 58 is a very rare genetic condition characterized by intellectual disability without identified malformations in other organs (non-syndromic) of the body.

ELP2
- Mental Retardation, Autosomal Recessive 58 OMIM
  
  A number sign (#) is used with this entry because of evidence that autosomal recessive mental retardation-58 (MRT58) is caused by homozygous or compound heterozygous mutation in the ELP2 gene (616054) on chromosome 18q12.
Autosomal Spastic Paraplegia Type 58 Orphanet

A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.

KIF1C
- Spastic Ataxia 2, Autosomal Recessive OMIM
  
  Novarino et al. (2014) reported 2 consanguineous families with spastic ataxia, which the authors called spastic paraplegia-58 (SPG58). In 1 family (family 803), 2 sisters presented at 2.5 years of age with tiptoe walking.
Mental Retardation, X-Linked 58 OMIM

A number sign (#) is used with this entry because nonsyndromic X-linked mental retardation-58 is caused by mutation in the TM4SF2 gene (TSPAN7; 300096) on chromosome Xp11.

IQSEC2, DLG3, GDI1, PAK3, ACSL4, ARX, MECP2, RPS6KA3, HCFC1, IL1RAPL1, TSPAN7, FTSJ1, ZNF41, DMD, CNKSR2, MID2, AGTR2, UPF3B, CXorf56, FRMPD4, ALG13, SLC9A7, RAB39B, PTCHD1, ZNF81, MED12, ZNF711, ARHGEF6, SYP, CLCN4, USP27X, USP9X, ABCG2, FRAXE, AFF2, STS, OPHN1, ALAS2, POU3F4, SERPINA4, RPS6KA6, THOC2, ANOS1, FMR1, ELK1
- Mental Retardation, X-Linked 63 OMIM
  
  A number sign (#) is used with this entry because of evidence that X-linked mental retardation-63 can be caused by mutation in the ACSL4 (300157) gene. Clinical Features Raynaud et al. (2000) reported a 4-generation family with nonspecific nonsyndromic X-linked mental retardation. Affected males showed nonprogressive mental retardation ranging from severe to moderate, without seizures, whereas carrier females showed highly variable cognitive capacities, ranging from moderate mental retardation to normal intelligence. Mapping Raynaud et al. (2000) reported a 4-generation family with nonspecific nonsyndromic X-linked mental retardation mapped between DXS990 and DXS1227 (Xq21.33-q27.1) with a maximum lod at theta = 0.0 of 2.14 at DXS1001. Molecular Genetics In the proband of the family reported by Raynaud et al. (2000) as MRX63, Meloni et al. (2002) identified a mutation in the ACSL4 gene (300157.0001).
- Mental Retardation, X-Linked 73 OMIM
  
  Clinical Features Martinez et al. (2001) reported a 4-generation family in which 5 males had mild to moderate nonspecific mental retardation. Brain CT scan performed in 1 patient was normal. Inheritance The pedigree pattern in the family with mental retardation reported by Martinez et al. (2001) was consistent with X-linked inheritance. Mapping By typing of markers throughout the X chromosome in a 4-generation family with nonsyndromic mental retardation, Martinez et al. (2001) mapped the phenotype locus to a 2-cM interval between markers DXS8019 and DXS365 on chromosome Xp22.2. Molecular Genetics Exclusion Studies In a family with nonsyndromic mental retardation mapping to Xp22.2, Martinez et al. (2001) performed direct sequencing of the RSK2 gene (300075) but found no causal mutation. They concluded that another unidentified gene for X-linked mental retardation is located near RSK2.
- Mental Retardation, X-Linked 104 OMIM
  
  A number sign (#) is used with this entry because of evidence that X-linked mental retardation-104 (MRX104) is caused by mutation in the FRMPD4 gene (300838) on chromosome Xp22. Clinical Features Hu et al. (2016) reported a large family (P58) in which 5 males had mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems. They also reported an unrelated patient (L87) who presented at age 17 years with significant developmental delay, absence of speech, and autism spectrum disorder. Piard et al. (2018) reported follow-up of the patients reported by Hu et al. (2016) and identified 4 additional male patients from 2 additional unrelated families. Including the previous report, there were 10 affected males from 4 unrelated families with patients ranging from 4 to 66 years of age.
- Mental Retardation, X-Linked 99 OMIM
  
  A number sign (#) is used with this entry because of evidence that X-linked mental retardation-99 (MRX99) is caused by mutation in the USP9X gene (300072) on chromosome Xp11. Heterozygous mutation in the USP9X gene can also cause female-restricted X-linked syndromic mental retardation-99 (MRXS99F; 300968). Clinical Features Homan et al. (2014) reported 4 patients from 3 unrelated families with X-linked recessive mental retardation. The families were previously ascertained by Tarpey et al. (2009) in a large-scale study that resequenced coding exons of the X chromosome in patients with mental retardation. The patients showed developmental delay, hypotonia, and some behavioral abnormalities, such as aggression.
- Mental Retardation, X-Linked 90 OMIM
  
  A number sign (#) is used with this entry because X-linked mental retardation-90 (MRX90) is caused by mutation in the DLG3 (300189) gene on chromosome Xq13. Clinical Features Tarpey et al. (2004) reported 4 families in each of which at least 2 males had moderate to severe nonsyndromic X-linked mental retardation. Philips et al. (2014) reported 2 unrelated Finnish families with MRX90. Three affected males in 1 family (D172) had delayed psychomotor development with speech delay, mild to moderate intellectual disability, narrow thorax, molar hypoplasia, short and upslanting palpebral fissures, high-arched palate, and hypotonia. Five males in the second family (D301) had delayed motor and language development with moderate to severe mental retardation.
- Mental Retardation, X-Linked 41 OMIM
  
  A number sign (#) is used with this entry because this form of X-linked mental retardation, referred to as MRX41 or MRX48, is caused by mutation in the GDI1 gene (300104) on chromosome Xq28. Clinical Features Hamel et al. (1996) reported a family segregating mild to moderate mental retardation as an X-linked trait (MRX41). Des Portes et al. (1997) reported a large 3-generation family segregating nonspecific X-linked mental retardation (MRX48). The pedigree suggested X-linked semidominant inheritance: moderate to severe mental retardation was found in 7 males and milder intellectual impairment in 2 females, without any specific clinical, radiologic, or biologic features. Bienvenu et al. (1998) reported a large French family (family R) in which all affected males showed moderate to severe mental retardation.
- Mental Retardation, X-Linked 21 OMIM
  
  A number sign (#) is used with this entry because X-linked mental retardation-21 (MRX21) is caused by mutation in the IL1RAPL1 gene (300206) on chromosome Xp21. Description This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008). Clinical Features Kozak et al. (1993) reported a 3-generation Italian family in which 4 male patients had moderate mental retardation without any specific or consistent phenotypic abnormalities. One obligate female carrier had mild retardation and another 2 had normal intelligence, suggesting incomplete penetrance in females.
- Mental Retardation, X-Linked 42 OMIM
  
  Clinical Features Golla et al. (2002) reported a family in which 4 males had mild to moderate nonspecific X-linked mental retardation, with no intellectual impairment in their obligate carrier mothers. Mapping By linkage analysis in a family in which 4 affected males had nonsyndromic mental retardation, Golla et al. (2002) obtained the same multipoint lod score of 2.08 for 2 intervals on the X chromosome: one in the pericentromeric region and the other at Xq26. Since the responsible gene was not characterized, haplotyping was the only means available for carrier and prenatal testing for this form of MRX, which they designated MRX42. Carrier risk estimation using pedigree and haplotype data for 5 females at risk was presented, and the difficulties of prenatal diagnosis given linkage to 2 different regions was discussed.
- Raynaud-Claes Syndrome OMIM
  
  A number sign (#) is used with this entry because of evidence that Raynaud-Claes syndrome (MRXSRC) is caused by mutation in the CLCN4 gene (302910) on chromosome Xp22. Description Raynaud-Claes syndrome is an X-linked intellectual developmental disorder characterized by borderline to severe intellectual disability and impaired language development. Additional features include behavioral problems, psychiatric disorders, seizures (variable forms), progressive ataxia, brain abnormalities, and facial dysmorphisms. Some heterozygous females are unaffected, whereas others are affected with a severity spectrum similar to that seen in males (summary by Palmer et al. (2018)). Clinical Features Raynaud et al. (1996) reported a French family (MRX15) in which 5 males spanning 2 generations had nonsyndromic X-linked mental retardation.
- Mental Retardation, X-Linked 1 OMIM
  
  A number sign (#) is used with this entry because of evidence that X-linked mental retardation-1 (MRX1) is caused by hemizygous or heterozygous mutation in the IQSEC2 gene (300522) on chromosome Xp11. Clinical Features Suthers et al. (1988) reported a large family in which multiple males spanning several generations had nonsyndromic X-linked mental retardation. Two developed psychiatric problems and 1 had infrequent seizures. Carrier females were 'less academically able compared to their non-carrier sibs' (Shoubridge et al., 2010). Shoubridge et al. (2010) provided follow-up of a family with X-linked mental retardation reported by Gedeon et al. (1994) as MRX18. Affected males had moderate to severe intellectual disability, and some had seizures.
- Mental Retardation, X-Linked 9 OMIM
  
  A number sign (#) is used with this entry because this form of nonspecific X-linked mental retardation is caused by mutation in the FTSJ1 gene (300499). Clinical Features Nonspecific X-linked mental retardation (MRX) includes several distinct entities with mental retardation but without additional distinguishing features. Hamel et al. (1999) described a 4-generation family segregating X-linked mental retardation. Affected members had nonprogressive mental retardation noted during childhood, and several demonstrated aggressive behavior. The mental retardation in tested members of the family was moderate to severe; none of the patients was able to read, write, or solve simple arithmetic problems.
- Tonne-Kalscheuer Syndrome OMIM
  
  A number sign (#) is used with this entry because of evidence that Tonne-Kalscheuer syndrome (TOKAS) is caused by hemizygous mutation in the RLIM gene (300379) on chromosome Xq13. Description Tonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death.
- Mental Retardation, X-Linked 30 OMIM
  
  A number sign (#) is used with this entry because this form of nonsyndromic X-linked mental retardation is caused by mutation in the gene encoding p21-activated kinase-3 (PAK3; 300142). Clinical Features Des Portes et al. (1997) reported a French family in which 6 males in 2 generations had nonsyndromic X-linked mental retardation. All affected males had moderate to severe mental retardation without seizures, statural growth deficiencies, or other physical abnormalities. Gedeon et al. (2003) reported an Australian family with nonsyndromic MRX affecting 19 males in 5 generations. Some of the patients had relatively long ears, but no other physical abnormalities.
- Mental Retardation, X-Linked 105 OMIM
  
  A number sign (#) is used with this entry because of evidence that X-linked mental retardation-105 (MRX105) is caused by mutation in the USP27X gene (300975) on chromosome Xp11. Clinical Features Hu et al. (2016) reported 2 unrelated families (D177 and L75) in which a total of 7 males had borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems. No additional clinical details were provided. Inheritance The transmission pattern of MRX105 in the families reported by Hu et al. (2016) was consistent with X-linked recessive inheritance. Molecular Genetics In 3 affected males from a family (D177) with MRX105, Hu et al. (2016) identified a hemizygous truncating mutation in the USP27X gene (300975.0001). An unrelated male patient (family L75) with MRX105 was found to carry a hemizygous missense mutation in the USP27X gene (Y381H; 300975.0002); 3 others males in this family were affected, but genetic studies were not performed.
- Mental Retardation, X-Linked 88 OMIM
  
  Clinical Features Vervoort et al. (2002) reported 9 male patients with a mutation in the AGTR2 gene who had moderate to severe mental retardation. Five of the patients had seizures and, with the exception of 1 patient, they were not hypertensive. Two patients also showed autistic behavior. Cytogenetics Vervoort et al. (2002) analyzed a de novo balanced translocation 46,X,t(X;7)(q24;q22) in a female patient with moderate mental retardation. This patient had completely skewed X inactivation. They mapped the X-chromosome breakpoint and demonstrated by RT-PCR that the AGTR2 gene was silenced in this patient. History Vervoort et al. (2002) screened affected males from 33 families with possible X-linked MR but no definitive linkage data, and a large cohort of 552 unrelated male patients with MR of unknown cause but negative for the FMR1 expansion.
- Mental Retardation, X-Linked 19 OMIM
  
  A number sign (#) is used with this entry because this form of X-linked mental retardation (MRX19) is caused by mutation in the RPS6KA3 gene (300075). Description X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS; 303600), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).
- Mental Retardation, X-Linked 89 OMIM
  
  Clinical Features Shoichet et al. (2003) reported a 7-year-old girl with severe developmental delay who had a de novo balanced chromosome rearrangement, t(X;7)(p11.3;q11.21). At age 2 years, she did not yet walk or speak, and she exhibited clearly delayed psychomotor development. At age 3 years 9 months, occasional convulsions, predominantly localized to the shoulders and upper back, were reported, which led to the diagnosis of myoclonic epilepsy. At age 5 years 6 months, her physical development was in the normal range. She had no dysmorphic features. Screening for inborn errors of metabolism resulted in no indication of amino acidopathies or organic acidurias.
- Mental Retardation, X-Linked 95 OMIM
  
  Clinical Features Molinari et al. (2008) reported an Australian family with nonsyndromic X-linked mental retardation. Of 5 sibs, there was 1 healthy girl, 2 girls with mild mental retardation, and 2 boys with severe mental retardation. The 2 affected males had a similar phenotype with the same degree of handicap. Both were in educational classes for the moderately handicapped and were able to hold a limited conversation; however, neither learned to read or write. Both were on disability pensions as adults. Their mother was described as slow and was found to carry the mutation.
- Mental Retardation, X-Linked 81 OMIM
  
  Clinical Features Annunziata et al. (2003) reported an Italian family in which 9 males in 2 generations had nonspecific moderate to severe mental retardation. Mapping In an Italian family in which 9 males in 2 generations had nonspecific mental retardation, Annunziata et al. (2003) found linkage of the disorder to the pericentromeric region of the X chromosome. Haplotype construction delineated an 8-cM critical region for the locus, which they designated MRX81, at Xp11.2-q12 between DXS1039 and DXS1216. Molecular Genetics Exclusion Studies Annunziata et al. (2003) excluded 2 candidate genes for MRX81: oligophrenin-1 (300127) and ephrin-B1 (300035). INHERITANCE - X-linked recessive NEUROLOGIC Central Nervous System - Mental retardation, moderate to severe MISCELLANEOUS - Based on a report of 9 affected males from one Italian family - No consistent features other than mental retardation - Obligate carrier females have normal intelligence ▲ Close
- Mental Retardation, X-Linked 96 OMIM
  
  A number sign (#) is used with this entry because of evidence that X-linked mental retardation-96 (MRX96) is caused by mutation in the SYP gene (313475). Clinical Features Tarpey et al. (2009) identified 4 families with X-linked mental retardation who had mutations in the SYP gene. In 3 families, all with truncating mutations, mental retardation was mild to moderate and there were no consistent additional features, although epilepsy was noted in some individuals. Female carriers had no manifestations. Molecular Genetics The SYP mutations found by Tarpey et al. (2009) in 4 unrelated families with mental retardation included 3 truncating mutations and a missense mutation (313475.0001-313475.0002). INHERITANCE - X-linked recessive NEUROLOGIC Central Nervous System - Mental retardation, mild to moderate - Epilepsy (in some patients) MOLECULAR BASIS - Caused by mutation in the synaptophysin gene (SYP, 313475.0001 ) ▲ Close
- Chromosome Xp11.22 Duplication Syndrome OMIM
  
  A number sign (#) is used with this entry because of evidence that the phenotype is caused by microduplications within a region of chromosome Xp11.22 (chrX:53.0-54.3 Mb) that involve the HSD17B10 (300256) and HUWE1 (300697) genes. Increased dosage of HUWE1 is believed to be responsible for the phenotype (Froyen et al., 2012). Point mutations in the HSD17B10 and HUWE1 genes have been found to cause syndromic forms of mental retardation, MRXS10 (see 300438) and MRXST (309590), respectively. Clinical Features Gedeon et al. (1994) reported a family in which 6 males spanning 3 generations had moderate mental retardation with slow speech development inherited in an X-linked pattern. No significant common dysmorphic features were noted. Donnelly et al. (1996) reported a 4-generation family with multiple males affected with global retardation that became apparent between ages 2 and 4 years.
- Mental Retardation, X-Linked 45 OMIM
  
  Clinical Features Hamel et al. (1999) described a 6-generation family segregating X-linked mental retardation. Affected members demonstrated nonprogressive mental retardation during childhood and had large, simple ears, relatively large hands, and normal behavior. The propositus also had clinodactyly of the fifth fingers and flat feet; findings in other affected individuals included short stature, high-arched palate, high nasal bridge, full lips, and large testes. The mental retardation in family MRX45 ranged from mild to severe: most affected members showed higher adaptive than intellectual functioning, and most could read, write, and solve simple arithmetic problems. Cytogenetics In a female patient with severe mental retardation and a de novo translocation t(X;9)(p11.23;q34.3), Kleefstra et al. (2004) characterized the breakpoints and found that the translocation disrupted the ZNF81 gene.
- Mental Retardation, X-Linked 77 OMIM
  
  Clinical Features Sismani et al. (2003) reported a Greek family with apparently nonsyndromic X-linked mental retardation. The affected males had moderate to severe mental retardation, severe speech problems, and aggressive behavior. Mapping Sismani et al. (2003) performed linkage analysis on a Greek family with apparently nonsyndromic X-linked mental retardation. Two-point linkage analysis with 26 polymorphic markers spanning the entire X chromosome allowed assignment of the causative gene to a 27-Mb interval in Xq12-q21.3. Molecular Genetics Exclusion Studies In affected members of a family segregating X-linked mental retardation, Sismani et al. (2003) performed DNA analysis of 3 known or candidate MRX genes from the Xq12-q21 region, OPHN1 (300127), ATRX (300032), and RSK4 (300303), and found no mutations.
- Mental Retardation, X-Linked 46 OMIM
  
  Clinical Features Yntema et al. (1998) reported a large Dutch family in which 12 males in 3 generations were affected with nonspecific X-linked mental retardation. Of 9 examined patients, 6 showed moderate mental retardation, and 1 each showed mild, severe, and profound mental retardation. Obligate female carriers were all normal. Mapping Linkage analysis of the family reported by Yntema et al. (1998) yielded a maximum lod score of 5.12 at HPRT between DXS8072 and DXS294 at Xq25-q26. Cytogenetics Kutsche et al. (2000) studied a male patient with severe mental retardation, mildly dysmorphic features, and sensorineural hearing loss who carried an apparently balanced X;21 translocation with breakpoints in Xq26 and 21p11. His unaffected mother carried the same translocation (von Ballestrem et al., 1996).
- Mental Retardation, X-Linked 23 OMIM
  
  Clinical Features Lehrke (1974) described a nonspecific form of X-linked mental retardation in a large kindred designated family 1. The pedigree was updated by Howard-Peebles and Roberts (1984). Affected males had lower verbal IQs than performance IQs. Several of the affected males had performance IQs above 80; however, because of the lower (12.3 points on average) verbal IQs, they were considered retarded. Mapping Gregg et al. (1996) mapped the gene for this form of X-linked mental retardation, designated MRX23, to Xq23-q24 by linkage studies in the large kindred (family 1) of Lehrke (1974). Multipoint linkage analysis gave a maximum lod score of 6.7 between markers DXS1220 and DXS424.
- Mental Retardation, X-Linked 72 OMIM
  
  A number sign (#) is used with this entry because of evidence that X-linked mental retardation-72 (MRX72) is caused by hemizygous mutation in the RAB39B gene (300774) on chromosome Xq28. Mutation in the RAB39B gene can also cause X-linked recessive mental retardation with early-onset Parkinson disease, known as Waisman syndrome (WSMN; 311510). Clinical Features Russo et al. (2000) reported a 3-generation Sardinian family segregating X-linked mental retardation. Three affected individuals had seizures and 1 had features of autism (see 209850). Giannandrea et al. (2010) reported a large family with X-linked mental retardation spanning 2 generations.
- Mental Retardation, X-Linked 14 OMIM
  
  Clinical Features Gendrot et al. (1994) reported a French family in which 9 persons had moderate mental deficiency and poor speech in 3 generations. Some of the patients had facial dysmorphism, epilepsy, and macroorchidism. Mapping By linkage analysis in a family segregating mental retardation, Gendrot et al. (1994) found no recombination between the disease locus, designated MRX14, and 2 loci: DXS255 at Xp11.22 (maximum lod = 3.31 at theta = 0) and PGKP1 at Xq11.2-q12 (maximum lod = 3.08 at theta = 0). In a note added in proof, Gendrot et al. (1994) stated that they had found a recombination with MAOB (309860) at Xp11.3, reducing the linkage interval to Xp11.3-q13.3. GU - Macroorchidism Neuro - Moderate mental deficiency - Poor speech - Epilepsy Facies - Facial dysmorphism Inheritance - X-linked ▲ Close
- Iqsec2 GARD
  
  IQSEC2 is a genetic condition that causes intellectual disability and sometimes other physical, neurological, or psychiatric symptoms. People with this condition can have seizures that are often difficult to control with medications. Other symptoms may include motor and language development delay, regression of learning abilities, autistic-like behavior, characteristic hand movements, and behavioral problems. Physical features may include abnormal head shape (plagiocephaly), very small head (microcephaly), reduced muscle tone (hypotonia), and crossed eyes (strabismus). This condition is caused by mutations in the IQSEC2 gene, which is located on chromosome X .
- Mental Retardation, X-Linked 101 OMIM
  
  A number sign (#) is used with this entry because of evidence that X-linked mental retardation-101 (MRX101) is caused by mutation in the MID2 gene (300204) on chromosome Xq22. One such family has been reported. Clinical Features Geetha et al. (2014) reported a large family from northern India in which 11 males spanning 3 generations had mental retardation. All 6 patients evaluated had global developmental delay. Facial dysmorphism was not prominent, but several patients had long face, prominent ears, and squint or strabismus. Two had seizures. Most also had hyperactivity, often with aggressive outbursts. Inheritance The transmission pattern in the family with MRX101 reported by Geetha et al. (2014) was consistent with X-linked recessive inheritance.
- Mental Retardation, X-Linked 107 OMIM
  
  A number sign (#) is used with this entry because of evidence that X-linked mental retardation-107 (MRX107) is caused by hemi- or heterozygous mutation in the CXORF56 gene (301012) on chromosome Xq24. One such family has been reported. Clinical Features Verkerk et al. (2018) reported a large 3-generation Dutch family in which 5 males and 1 female had mild to moderate intellectual disability. The patients had delayed development but were able to attend special schools, and some were able to work in a sheltered environment. Two males had significant behavioral problems, such as pervasive developmental disorder, attention disorder, hyperactivity, and transgressive behavior. The patients had variable dysmorphic facial features, including long, narrow face, prominent chin, upward slanting palpebral fissures, flat philtrum, narrow upper lip, and large ears with prominent cruxes.
- Mental Retardation, X-Linked 92 OMIM
  
  Clinical Features Lugtenberg et al. (2006) studied a family in which 6 males in 3 generations had moderate to severe nonsyndromic mental retardation in an X-linked pattern of inheritance (XLMR). The 17-year-old proband had an IQ of 45. His mother had normal intelligence. He was the second son of unrelated parents and had 1 affected brother, 3 healthy sisters, and 1 carrier sister with borderline intelligence. Mapping The family reported by Lugtenberg et al. (2006) segregating X-linked mental retardation had previously been studied (family T40) by Raynaud et al. (2000), who found evidence of linkage of mental retardation to Xp11.3. History In a family in which 6 males in 3 generations had moderate to severe nonsyndromic mental retardation in a pattern consistent with X-linked recessive inheritance, Lugtenberg et al. (2006) identified a 352G-T transversion in exon 6 of ZNF674 cDNA, predicted to result in a glu118-to-ter (E118X; 300573.0001) truncated protein containing the Kruppel-associated box domains but lacking the zinc finger domains, which are crucial for DNA binding.
- Mental Retardation, X-Linked 97 OMIM
  
  A number sign (#) is used with this entry because of evidence that this form of nonsyndromic X-linked mental retardation (MRX97) is caused by hemizygous mutation in the ZNF711 gene (314990) on chromosome Xq21. Clinical Features Yntema et al. (1999) reported a family (MRX65) in which 6 males in 3 generations had mild to moderate intellectual disability with speech delay. Four patients were obese. Van der Werf et al. (2017) provided follow-up of this family, noting that dysmorphic features included a broad face and prominent forehead. Van der Werf et al. (2017) reported another 4-generation family in which 5 males had mild to moderate intellectual disability, most often with motor delay and poor speech. Two had autistic features. Variable dysmorphic features included long face, synophrys, and relatively large ears.
- Mental Retardation, X-Linked 82 OMIM
  
  Clinical Features Martinez et al. (2004) described a Basque family in which 5 males in 4 sibships in 2 generations had nonsyndromic mental retardation. Mapping In a Basque family with nonsyndromic mental retardation, Martinez et al. (2004) found linkage to Xq24-q25 with a maximum lod score of 2.4. Haplotype studies and multipoint linkage analysis suggested a localization of the MRX82 locus to an interval of 7.6 Mb defined by markers DXS6805 and DXS7346, in Xq24 and Xq25, respectively. The linked interval contained the gene encoding glutamate receptor-3 (GRIA3; 305915), but mutation analysis showed no pathologic changes. INHERITANCE - X-linked recessive SKELETAL Spine - Kyphosis - Scoliosis NEUROLOGIC Central Nervous System - Mental retardation, mild to profound - Seizures (patient A) - Abnormal EEG (patient B) - Postnatal hypotonia (patient A) - Normal cerebral CT scan (patient A) Behavioral Psychiatric Manifestations - Autistic behavior (patient A) MISCELLANEOUS - Based on a report of an extended ethnically Basque family ▲ Close
- Mental Retardation, X-Linked 84 OMIM
  
  Clinical Features Zhang et al. (2004) reported a Chinese family in which 3 males in 3 generations had nonspecific X-linked mental retardation. The obligate carrier females were not affected. Mapping By 2-point linkage analysis, Zhang et al. (2004) demonstrated linkage of nonspecific mental retardation in a Chinese family to several markers located at Xq22.2, with a maximum lod score of 2.41 at theta = 0.0 for 2 adjacent markers (DXS1191 and DXS1230). Recombination events were observed with flanking markers DXS8080 and DXS456, located at Xp11.3 and Xq22.3, respectively, and a region of approximately 22.3 cM was defined. The localized region observed in this family overlapped with 29 other MRX loci previously reported in Xp11.3-q22.3. INHERITANCE - X-linked recessive GROWTH Height - Short stature HEAD & NECK Face - Broad forehead NEUROLOGIC Central Nervous System - Mental retardation, mild to moderate MISCELLANEOUS - No characteristic pattern of anomalies ▲ Close
- Mental Retardation, X-Linked 2 OMIM
  
  Clinical Features Proops et al. (1983) reported a Japanese family (family F) living in Hawaii with mental retardation in 3 generations. Affected males were mildly or moderately retarded, while a number of heterozygous females were mildly retarded. The affected males were relatively short with a large head, highly arched palate, square face, prominent ears, and large testicular volumes. Their speech was limited and characterized by repetitive phrases or inflections. Affected males and females were described as having a pleasant demeanor.
- Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related OMIM
  
  A number sign (#) is used with this entry because this form of nonspecific X-linked mental retardation is caused by mutation in the ARX gene (300382) on chromosome Xp21. Description ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1; 308350) to Partington syndrome (309510) (Kato et al., 2004; Wallerstein et al., 2008). Clinical Features Hamel et al. (1999) described a two 4-generation families (MRX43 and MRX52) segregating X-linked mental retardation. Affected members in family MRX43 had moderate to profound nonprogressive mental retardation recognized in early childhood.
- Mental Retardation, X-Linked 53 OMIM
  
  Clinical Features Ahmad et al. (2001) described a large Pakistani family with X-linked nonspecific mental retardation. Mapping By linkage analysis in a Pakistani family segregating nonsyndromic mental retardation, Ahmad et al. (2001) identified a novel disease locus, MRX53, located in a critical region spanning approximately 15 cM between DXS1210 and DXS1047 on Xq22.2-q26. A lod score of 3.34 at no recombination was obtained with markers DXS1072 and DXS8081. INHERITANCE - X-linked recessive NEUROLOGIC Central Nervous System - Mental retardation (IQ between 45-50) - Normal gross motor development MISCELLANEOUS - Based on a report of 8 affected males in one Pakistani family ▲ Close
- Mental Retardation, X-Linked 50 OMIM
  
  Clinical Features Claes et al. (1997) added 2 families to the growing list of nonspecific X-linked mental retardation (XLMR) families in which the disease gene could be mapped to a specific site on the X chromosome. The first family reported was designated MRX49 (300114). The second of these families, designated MRX50, contained 4 males in 2 generations showing moderate mental retardation. Mapping Linkage analysis in the MRX50 family by Claes et al. (1997) showed location of the locus at Xp11.3-p11.21 in the pericentromeric part of the short arm of the X chromosome, overlapping with a large number of other MRX gene regions: MRX1 (309530), MRX5, MRX7, MRX8, MRX9 (309549), MRX10, MRX11, MRX12 (300957), MRX13, MRX14 (300062), MRX15, MRX18, MRX22, MRX26, MRX31, and MRX38 (see 300419). Gedeon et al. (1996) hypothesized that all of the MRX assignments clustered on the pericentromeric part of Xp could be accounted for by 2 gene locations, namely the MRX1 and the MRX10 locations. Some of these families with pericentromeric gene locations show additional characteristic abnormalities and some of them show manifestations of disease in heterozygous carriers.
- Mental Retardation, X-Linked 20 OMIM
  
  Description Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' The Human Gene Mapping Nomenclature Committee (Mulley et al., 1992) proposed to designate each newly reported apparently unique X-linked mental retardation (MRX) family with gene symbols (e.g., MRX1, MRX2) if a minimal lod score of 2.0 was demonstrated between the MR locus and 1 or more X chromosome markers. Mapping Lazzarini et al. (1995) reported a family with MRX20. Fragile X syndrome was excluded cytogenetically and by absence of linkage to the Xq27.3 region. On the other hand, linkage studies using short tandem repeat polymorphism (STRP) markers indicated that the mutation is at a locus in the centromeric region of the X chromosome.
Deafness, Autosomal Dominant 58 OMIM

Clinical Features Lezirovitz et al. (2009) reported a large Brazilian family in which 12 members over 5 generations had nonsyndromic bilateral postlingual hearing loss. The hearing loss was initially mild and affected high frequencies in all patients, but became more severe and affected all frequencies with time. Some of the patients had tinnitus. No symptoms of vestibular dysfunction were reported. Age of onset ranged from 18 to 45 years. Inheritance The transmission pattern of nonsyndromic deafness in the Brazilian family reported by Lezirovitz et al. (2009) was consistent with autosomal dominant inheritance. Mapping By multipoint linkage analysis in a Brazilian family segregating autosomal dominant nonsyndromic deafness, Lezirovitz et al. (2009) found linkage to chromosome 2p21-p12 with a peak lod score of 4.14.
Mental Retardation, Autosomal Dominant 58 OMIM

A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-58 (MRD58) is caused by heterozygous mutation in the SET gene (600960) on chromosome 9q34.

SET
Epileptic Encephalopathy, Early Infantile, 58 OMIM

A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-58 (EIEE58) is caused by heterozygous mutation in the NTRK2 gene (600456) on chromosome 9q21.

NTRK2
Neutral Lipid Storage Disease Wikipedia

"Chanarin–Dorfman syndrome: Deficiency in CGI-58, a lipid droplet-bound coactivator of lipase". ... "Chanarin–Dorfman syndrome: Deficiency in CGI-58, a lipid droplet-bound coactivator of lipase". ... "Chanarin–Dorfman syndrome: Deficiency in CGI-58, a lipid droplet-bound coactivator of lipase". ... "Chanarin–Dorfman syndrome: Deficiency in CGI-58, a lipid droplet-bound coactivator of lipase". ... "Chanarin–Dorfman syndrome: Deficiency in CGI-58, a lipid droplet-bound coactivator of lipase".

ABHD5, PNPLA2, ANO10, TTR, LEXM, CD40LG, AADAC, LPIN2, PLIN1, S100A7, SHOX, SLC22A5, DGAT1, CIC, KDM4A, PEMT, PDGFRB, AGK, PNPLA1, MICOS10-NBL1, SERPINA1, PARN, PLIN2, CPT2, AGT, APOA1, CCND1, CD80, CD86, CDK4, CDKN2A, DCX, NBL1, ESR1, ETFA, ETFB, ETFDH, IFNG, ITGA2B, MDM2, H3P10
- Cerebral Creatine Deficiency Wikipedia
  
  Cerebral creatine deficiency Other names CCD Specialty Pediatrics , medical genetics , neurology Symptoms intellectual disability, developmental delay, seziures Usual onset early childhood Causes Genetic Diagnostic method Blood, and urine tests, genetic testing , brain MRS Treatment dietary modification, creatine supplementation Prognosis variable; early treatment for AGAT and GAMT deficiency results in significantly improved outcomes Cerebral creatine deficiencies are a small group of inherited disorders that result from defects in creatine biosynthesis and utilization. Commonly affected tissues include the brain and muscles. There are three distinct CCDs. The most common is creatine transporter defect (CTD), an X-linked disorder caused by pathogenic variants in SLC6A8 . The main symptoms of CTD are intellectual disability and developmental delay, and these are caused by a lack of creatine in the brain, due to the defective transporter. There are also two enzymatic defects of creatine biosynthesis, arginine:glycine amidinotransferase deficiency (AGAT deficiency), caused by variants in GATM and guanidinoacetate methyltransferase deficiency (GAMT deficiency), caused by variants in GAMT .
- Chanarin-Dorfman Syndrome MedlinePlus
  
  Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dry, scaly skin (ichthyosis), which is usually present at birth. Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts ), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability. The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome.
- Neutral Lipid Storage Disease Orphanet
  
  Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished. Epidemiology The group of diseases is very rare and the prevalence is unknown (around 50 cases have been reported in medical literature, of which 3 had NLSDM) because of the vagueness of the descriptions. Clinical description In NLSDI, generalized ichthyosis occurs in 95% of cases, moderate myopathic syndrome (or abnormal serum muscle enzyme levels), intellectual deficit and moderate hepatomegaly (or functional impairment of the liver) occur in 60% of cases, ocular (cataract, retinopathy) and hearing abnormalities (deafness) occur in 40% of cases, and neuropathy and short stature occur in 20% of cases. Etiology NLSDI/Dorfman-Chanarin disease is caused by mutations in the ABHD5 gene (3p21), NLSDM by mutations in the PNPLA2/ATGL gene (localized to 11p15.5).
- Neutral Lipid Storage Disease With Ichthyosis Orphanet
  
  A form of neutral lipid storage disease characterized by the accumulation of lipid vacuoles in leukocytes (so-called Jordan's anomaly seen in peripheral blood smears) and a variety of other cell types. The clinical picture consists of congenital ichthyosis of the congenital ichthyosiform erythroderma type together with variable multisystem involvement. Manifestations include hepatosplenomegaly, myopathy, intestinal disease, growth retardation, cataracts, sensorineural hearing loss, and intellectual disability, among others.
- Chanarin-Dorfman Syndrome OMIM
  
  A number sign (#) is used with this entry because Chanarin-Dorfman syndrome, a rare form of nonbullous congenital ichthyosiform erythroderma (NCIE; see 242300), can be caused by homozygous mutation in the CGI58 gene (ABHD5; 604780). Another form of neutral lipid storage disease without ichthyosis but with myopathy (NLSDM; 610717) is caused by mutation in the PNPLA2 gene (609059). Clinical Features In a 5-year-old girl, Angelini et al. (1980) identified a syndrome, presumably inherited as an autosomal recessive, characterized by congenital ichthyosis, hepatosplenomegaly, vacuolated granulocytes (Jordans anomaly), and myopathy. Pathologic, ultrastructural and biochemical studies showed nonlysosomal, multisystem triglyceride storage. Cultured fibroblasts showed an increased uptake but decreased oxidation of labeled oleate.
- Chanarin-Dorfman Syndrome GARD
  
  Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides . These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver, cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition.
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.

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
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-55 (RP55) is caused by homozygous mutation in the ARL6 gene (608845) on chromosome 3q11. One such family has been reported. Mutation in the ARL6 gene can also cause a form of Bardet-Biedl syndrome (BBS3; see 209900), in which retinitis pigmentosa is one of the primary features. Mapping Aldahmesh et al. (2009) used homozygosity mapping to suggest causative genes in 52 Saudi Arabian patients with nonsyndromic retinitis pigmentosa (RP), and found linkage to the BBS3 locus on chromosome 3p12-q13. Molecular Genetics In 4 Saudi Arabian sibs with nonsyndromic retinitis pigmentosa (RP) mapping to chromosome 3p12-q13, Aldahmesh et al. (2009) identified homozygosity for a missense mutation in the ARL6 gene (608845.0006). 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
  
  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.
- 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
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-51 (RP51) is caused by homozygous mutation in the TTC8 gene (608132) on chromosome 14q31. Mutation in the TTC8 gene can also cause Bardet-Biedl syndrome-8 (BBS8; 615985), in which retinitis pigmentosa is one of the primary features. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Riazuddin et al. (2010) studied 4 affected and 7 unaffected members of a large consanguineous Pakistani family segregating autosomal recessive retinitis pigmentosa (RP). Medical records of the 4 affected individuals were suggestive of early-onset RP, with diagnoses made between 2 years and 4 years of age.
- 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
  
  These factors are ubiquitously expressed and it is proposed that defects in a ubiquitous factor (a protein expressed everywhere) should only cause disease in the retina because the retinal photoreceptor cells have a far greater requirement for protein processing ( rhodopsin ) than any other cell type. [21] The somatic, or X-linked inheritance patterns of RP are currently identified with the mutations of six genes, the most common occurring at specific loci in the RPGR and RP2 genes. [20] Types include: OMIM Gene Type 400004 RPY Retinitis pigmentosa Y-linked 180100 RP1 Retinitis pigmentosa-1 312600 RP2 Retinitis pigmentosa-2 300029 RPGR Retinitis pigmentosa-3 608133 PRPH2 Retinitis pigmentosa-7 180104 RP9 Retinitis pigmentosa-9 180105 IMPDH1 Retinitis pigmentosa-10 600138 PRPF31 Retinitis pigmentosa-11 600105 CRB1 Retinitis pigmentosa-12, autosomal recessive 600059 PRPF8 Retinitis pigmentosa-13 600132 TULP1 Retinitis pigmentosa-14 600852 CA4 Retinitis pigmentosa-17 601414 HPRPF3 Retinitis pigmentosa-18 601718 ABCA4 Retinitis pigmentosa-19 602772 EYS Retinitis pigmentosa-25 608380 CERKL Retinitis pigmentosa-26 607921 FSCN2 Retinitis pigmentosa-30 609923 TOPORS Retinitis pigmentosa-31 610359 SNRNP200 Retinitis pigmentosa 33 610282 SEMA4A Retinitis pigmentosa-35 610599 PRCD Retinitis pigmentosa-36 611131 NR2E3 Retinitis pigmentosa-37 268000 MERTK Retinitis pigmentosa-38 268000 USH2A Retinitis pigmentosa-39 612095 PROM1 Retinitis pigmentosa-41 612943 KLHL7 Retinitis pigmentosa-42 268000 CNGB1 Retinitis pigmentosa-45 613194 BEST1 Retinitis pigmentosa-50 613464 TTC8 Retinitis pigmentosa 51 613428 C2orf71 Retinitis pigmentosa 54 613575 ARL6 Retinitis pigmentosa 55 613617 ZNF513 Retinitis pigmentosa 58 613861 DHDDS Retinitis pigmentosa 59 613194 BEST1 Retinitis pigmentosa, concentric 608133 PRPH2 Retinitis pigmentosa, digenic 613341 LRAT Retinitis pigmentosa, juvenile 268000 SPATA7 Retinitis pigmentosa, juvenile, autosomal recessive 268000 CRX Retinitis pigmentosa, late-onset dominant 300455 RPGR Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness Pathophysiology [ edit ] Scanning electron micrograph depicting the retinal rod and cone photoreceptors. ... Neil Fachie , British paralympic cyclist [58] Lindy Hou , Australian tandem cyclist and triathlete [59] Steve Lonegan , Mayor of Bogota, New Jersey; Republican candidate for U.S.
- 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 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 71 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-71 (RP71) is caused by homozygous or compound heterozygous mutation in the IFT172 gene (607386) on chromosome 2p23. Mutation in the IFT172 gene also results in short-rib thoracic dysplasia-10 with or without polydactyly (SRTD10; 615630). For a general phenotypic description and discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Bujakowska et al. (2015) reported an unrelated woman and man with retinitis pigmentosa. The 33-year-old French woman developed night blindness in the second decade of life; examination showed RP as well as a lamellar macular hole on the left and optic nerve drusen on the right.
- 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
  
  This suggested that at least 11% of all RP referrals may be accounted for by this locus. Bader et al. (2003) screened 58 German XLRP families and found RP2 (300757) mutations in 8% and RPGR mutations in 71%, thus confirming the high frequency of the RP3 subtype.
- 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
  
  Clinical Features Strom et al. (2016) reported a mother and her son and daughter (pedigree RP02) with retinitis pigmentosa. The 58-year-old mother presented with difficulty reading with decreased visual acuity and bilateral visual field concentric constriction.
- 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
  
  A number sign (#) is used with this entry because of evidence that retinal dystrophy, including a form of cone-rod dystrophy (CORD16) and a form of retinitis pigmentosa (RP64), can be caused by homozygous or compound heterozygous mutation in the C8ORF37 gene (614477) on chromosome 8q22. Mutation in C8ORF37 can also cause Bardet-Biedl syndrome (BBS21; 617406), in which retinal dystrophy is associated with other features. For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970; for a similar discussion regarding retinitis pigmentosa (RP), see 268000. Description Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness.
- 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
  
  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.
Abortion In The United Kingdom Wikipedia

Subsections (a) to (d) were substituted for the former subsections (a) and (b) by section 37(1) of the Human Fertilisation and Embryology Act 1990 . [9] [10] The following terms in the legislation may be interpreted as follows (references are to the 1967 Act unless otherwise stated): The law relating to abortion – in England and Wales, this means sections 58 and 59 of the Offences against the Person Act 1861 and any rule of law relating to the procurement of abortion. [11] and in Scotland, this means any rule of law relating to the procurement of abortion; [11] Terminated by a registered medical practitioner – see Royal College of Nursing of the UK v DHSS [1981] AC 800, [1981] 2 WLR 279, [1981] 1 All ER 545, [1981] Crim LR 322, HL ; Place where termination must be carried out – see sections 1(3) to (4); The opinion of two registered medical practitioners – see section 1(4); Good faith – see R v Smith (John Anthony James), 58 Cr App R 106, CA ; Determining the risk of injury in ss. ... Until then there were two main laws on abortion in Northern Ireland: the Offences Against the Person Act 1861 (sections 58 and 59 ) prohibited attempts to cause a miscarriage; the Criminal Justice Act (Northern Ireland) 1945 (sections 25 and 26 ) provided an exception for acting "in good faith for the purpose only of preserving the life of the mother". A person convicted of administering drugs or using instruments to procure an abortion (section 58, 1861 Act) or child destruction (section 25, 1945 Act) was liable to "penal servitude for life"; a person convicted of the lesser offence of procuring drugs or other items to cause an abortion (section 59, 1861 Act) was "liable ... to be kept in penal servitude" but not for life. ... This reflected fetal viability in the United Kingdom at the time of the legislation and the relevant law has not been amended since 1945. [52] In 2017–2018, a total of 81 children in Northern Ireland were born alive at less than 28 weeks of gestation. [53] The repeal of sections 58 and 59—without replacement—decriminalised the following actions, in situations where a pregnancy has not reached 28 weeks of gestation: a woman administering drugs, or using an instrument or "other means whatsoever", with intent to cause (procure) her own miscarriage ; [54] any person (whosoever) taking any of the same actions with intent to cause the miscarriage of any woman (including cases with no consent from the pregnant woman ); [54] or any person supplying or procuring drugs, any instrument or anything whatsoever, with intent to cause the miscarriage of any woman. [55] The law provides for wider access to abortion than in Great Britain, where abortions are generally permitted up to 24 weeks of gestation. [56] Sections 58 and 59 have remained part of the law in England and Wales. [57] The intention of the Act, when it was passed by Parliament, was to consolidate and amend the statute law of England and Ireland relating to offences against the person. [58] On 21 October 2019, as a result of the Northern Ireland Assembly not being restored, sections 58 and 59 of the Offences Against the Person Act 1861 were repealed, decriminalising abortion. [59] On 25 March 2020, The Abortion (Northern Ireland) Regulations 2020 were laid before the Assembly; since 31 March 2020, the regulations make provision for abortion in Northern Ireland. [3] [60] [61] Hospital access to abortions [ edit ] On 24 May 2012, the Northern Ireland Department of Health issued an order requiring an audit of clinical coding regarding abortion in health and social care hospitals. [62] On 23 January 2019, the Northern Ireland Department of Health revealed that 12 abortions were performed in Northern Ireland hospitals between 2017 and 2018. [63] On 22 January 2020, it was revealed that hospitals in Northern Ireland were able to perform eight abortions between 2018 and 2019. [64] Current regulations [ edit ] On 25 March 2020, Northern Ireland published the changes to the abortion law. [65] This law permits abortion on demand for the first 12 weeks of pregnancy, since 31 March 2020. [66] [67] However, mirroring abortion laws in other United Kingdom countries, there is no time limit on abortions which involve risk of injury to the woman's physical or mental health, rape or incest, or fatal fetal abnormalities. [66] [67] Political party positions [ edit ] The positions of the political parties contesting elections in Northern Ireland regarding abortion can be summarised as follows: Democratic Unionist Party (DUP), Traditional Unionist Voice (TUV), Aontú – opposed to abortion; Social Democratic and Labour Party (SDLP) – anti-abortion with conscience vote; [68] Ulster Unionist Party (UUP), Alliance Party , Conservative – conscience vote (i.e. no formal party position); Sinn Féin – abortion to be available "where a woman’s life, health or mental health is at risk and in cases of fatal foetal abnormality" and "without specific indication ... through a GP led service in a clinical context as determined by law and licensing practice for a limited gestational period"; [69] Green Party – decriminalisation of abortion (i.e. abortion being available for any reason). [70] Abortion policy is regularly an issue of political debate in Northern Ireland. ... Section 6 of the 1837 Act was replaced by section 58 of the Offences against the Person Act 1861 .
Aneurysm, Intracranial Berry, 9 OMIM

They studied type III collagen cDNA from 58 patients of 7 different nationalities with one or the other of these diagnoses. ... Mutations that markedly decreased expression from 1 allele were also excluded in 42 of the 58 individuals.
Social (Pragmatic) Communication Disorder Wikipedia

Journal of Child Psychology and Psychiatry . 58 (10): 1166–1175. doi : 10.1111/jcpp.12785 . ... Journal of Child Psychology and Psychiatry . 58 : 1166–1175. doi : 10.1111/jcpp.12785 . ... Journal of Pschiatryychology and Pys . 58 (10): 1166–1175. doi : 10.1111/jcpp.12785 .

GABRA5, UCHL1, ADNP, DNAJC6, MED12, TUBB3, TBR1, PARK7, IQSEC2, CNTNAP2, SNCA, HTRA2, VPS13C, PINK1, LRRK2, HGSNAT, NRXN1, ALG11, PRKN, SLC6A8, PTEN, PODXL, KMT2A, SHANK3, NLGN3, SLC9A9, CTSS, EN2, CAPS2, MECP2, TNF, NTF3, TSC1, PIK3CA, PIK3CB, PIK3CD, PIK3CG, SMARCA2, CRH, BDNF
- Social Communication Disorder Wikipedia
  
  Social communication disorder Other names Social ( pragmatic ) communication disorder Social communication disorder ( SCD )—previously called semantic-pragmatic disorder ( SPD ) or pragmatic language impairment ( PLI )—is a disorder in understanding pragmatic aspects of language. People with SCD have special challenges with the semantic aspect of language (the meaning of what is being said) and the pragmatics of language (using language appropriately in social situations). Social communication disorder has been formally recognized as a diagnosis since the DSM-5 was released in 2013. Contents 1 Symptoms 2 Diagnostic 3 Treatment 4 Similar or related disorders 4.1 Differences between SCD and autism 5 History 6 See also 7 References Symptoms [ edit ] This section needs additional citations for verification . Please help improve this article by adding citations to reliable sources .
Tune Deafness OMIM

To estimate whether congenital amusia can be genetically transmitted, Peretz et al. (2007) performed direct auditory testing of 13 amusic probands and 17 controls, as well as 58 members of 9 large families of the amusic probands and 58 members of 10 of the control families.
Cardiomyopathy, Familial Hypertrophic, 18 OMIM

Landstrom et al. (2011) described a 4-generation family with CMH, in which the 58-year-old male proband presented with palpitations at age 51 years and was diagnosed with CMH. ... Landstrom et al. (2011) analyzed the PLN gene in a cohort of 1,064 CMH probands and identified heterozygosity for the L39X mutation in a 58-year-old male proband, who was negative for mutation in 9 myofilament genes known to be associated with CMH and was also negative for mutation in the PRKAG2 (602743), LAMP2 (309060), and GLA (300644) genes. ... Landstrom et al. (2011) analyzed the PLN gene in a cohort of 1,064 CMH probands and identified heterozygosity for the L39X mutation in a 58-year-old male proband, who was negative for mutation in 9 myofilament genes known to be associated with CMH and was also negative for mutation in the PRKAG2 (602743), LAMP2 (309060), and GLA (300644) genes.

PLN, CEP85L
Dens In Dente And Palatal Invaginations OMIM

Grahnen et al. (1959) found in a study of 3,000 Swedish children a frequency of about 3%. In 58 families studied, a similar defect was found in over one-third of parents.
Aortic Aneurysm, Familial Thoracic 9 OMIM

Barbier et al. (2014) studied a second family in which the female proband presented with type A aortic dissection at 58 years of age, with no skeletal, ophthalmologic, cutaneous, or pulmonary features. ... Analysis of MFAP5 in 225 probands and 178 simplex cases of thoracic aortic aneurysm of French origin and in 267 patients from Texas revealed a heterozygous missense mutation (W21L; 601103.0002) in a 58-year-old woman with aortic dissection.

MFAP5
Immunodeficiency 58 OMIM

A number sign (#) is used with this entry because of evidence that immunodeficiency-58 (IMD58) is caused by homozygous mutation in the CARMIL2 gene (610859) on chromosome 16q22. Description Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses.

CARMIL2
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration OMIM

Dykes et al. (1979) described 2 brothers, aged 62 and 66 years, who had this combination. Another brother, who died at age 58, had ichthyosis and a progressive neurologic disorder.
- Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome Orphanet
  
  Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.
Juvenile Ossifying Fibroma GARD

Because the recurrence rate of JOF ranges from 30% to 58%, continued follow-up is essential.

CDC73, RUNX2, MEN1, MIR199A2, MIR199A1, ZC3HAV1, WWOX, RASAL1, PTH, MDM2, CD6, MCM7, MCM2, SMAD3, HMMR, GNAS, EZH2, CD34, MIR200C
- Osteofibrous Dysplasia Wikipedia
  
  Osteofibrous dysplasia Other names Ossifying fibroma Specialty Oncology Osteofibrous dysplasia is a rare, benign non-neoplastic condition with no known cause. It is considered a fibrovascular defect. Campanacci described this condition in two leg bones, the tibia and fibula , [1] and coined the term. This condition should be differentiated from Nonossifying fibroma and fibrous dysplasia of bone . Contents 1 Presentation 2 Diagnosis 3 Treatment 4 References 5 External links Presentation [ edit ] The tibia is the most commonly involved bone, accounting for 85% of cases. [2] It is usually painless, although there may be localized pain or fracture, and presents as a localized firm swelling of the tibia in children less than two decades old (median age for males 10, females 13 [3] ). Several authors have related this non-neoplastic lesion to adamantinoma - a tumor involving subcutaneous long bones - stating the common cause to be fibrovascular defect. [4] However, the latter is distinguished from an osteofibrous dysplasia by the presence of soft tissue extension, intramedullary extension, periosteal reaction and presence of hyperchromic epithelial cells under the microscope.
Tachylalia Wikipedia

Terminologie de neuropsychologie et de neurologie du comportement, Montréal, Les Éditions de la Chenelière Inc.,1991, 176 p., p.58. ^ Tachylalia: clinical and acoustic study of 149 subjects This speech and debate-related article is a stub .

MAPT
Neurodegeneration Wikipedia

It is still unclear exactly what combination of apoptosis, non-apoptosis, and necrosis causes different kinds of aponecrosis. [3] Transglutaminase [ edit ] Transglutaminases are human enzymes ubiquitously present in the human body and in the brain in particular. [58] The main function of transglutaminases is bind proteins and peptides intra- and intermolecularly, by a type of covalent bonds termed isopeptide bonds , in a reaction termed transamidation or crosslinking . [58] Transglutaminase binding of these proteins and peptides make them clump together. The resulting structures are turned extremely resistant to chemical and mechanical disruption. [58] Most relevant human neurodegenerative diseases share the property of having abnormal structures made up of proteins and peptides . [58] Each of these neurodegenerative disesases have one (or several) specific main protein or peptide. ... In Huntington’s disease, it is huntingtin . [58] Transglutaminase substrates : Amyloid-beta , tau , alpha-synuclein and huntingtin have been proved to be substrates of transglutaminases in vitro or in vivo, that is, they can be bonded by trasglutaminases by covalent bonds to each other and potentially to any other transglutaminase substrate in the brain. [58] Transglutaminase augmented expression: It has been proved that in these neurodegenerative diseases (Alzheimer’s disease, Parkinson’s disease, and Huntington’s disease) the expression of the transglutaminase enzyme is increased. [58] Presence of isopeptide bonds in these structures: The presence of isopeptide bonds (the result of the transglutaminase reaction) have been detected in the abnormal structures that are characteristic of these neurodegenerative diseases . [58] Co-localization: Co-localization of transglutaminase mediated isopeptide bonds with these abnormal structures has been detected in the autopsy of brains of patients with these diseases. [58] Management [ edit ] The process of neurodegeneration is not well understood, so the diseases that stem from it have, as yet, no cures.

NGF, SNCA, APP, EPO, SIRT1, ATXN1, MAPT, HMOX1, PSEN1, PANK2, GDNF, HCRT, IL6, CRYAB, GSTO1, IDO1, TBCD, TTC19, SERPINA1, SOD2, GSTM1, GSTM2, SELENOP, APOD, VIM, KYNU, FTH1, PDE8B, AGPAT3, GSR, NGFR, GPX3, SPTAN1, PKD2, MGST1, GSTM4, GSTM5, SEPTIN5, LRRK2, INA, CAT, FTL, AIMP1, CLEC16A, APLP2, GOT2, ATG7, NQO1, TNF, PRNP, OPA1, RMDN2, CLN3, SACS, MTOR, NPC1, FXN, ATXN7, TREM2, NFE2L2, NEFL, P2RX7, TGM2, ATXN2, FMR1, PPARGC1A, RMDN1, SNCG, TPP1, SETX, TSPO, SNCB, CDK5, PIK3CG, PIK3CD, SMN2, SMN1, SIRT2, PPARG, SNRPN, PIK3CB, C9orf72, PIK3CA, NLRP3, PTPA, PPT1, PRKN, CLU, SOD1, FUS, CSF2, AR, STMN1, APOE, LAMC2, SIGMAR1, GRN, PLA2G6, TTR, DNM1L, IL1B, ABCD1, CDK5R1, HDAC6, SQSTM1, IGFALS, SNURF, MFN2, PARP1, PINK1, IGF1, HTT, HFE, ACTB, HSP90AA1, ACHE, HSPA4, LCN2, OPTN, TARDBP, SYBU, GABPA, BDNF, MAOB, GCG, UCHL1, BCHE, RMDN3, ATXN3, GFAP, VEGFA, VCP, ATM, GRIN2B, EIF2B2, TLR4, GAPDH, GBA, KHDRBS1, GTF2H1, EIF2S2, ANG, CP, EIF2B4, REN, DCTN4, NUP62, EIF2B1, PIN1, TPPP, GSK3B, HSF1, ITM2B, HRES1, S100B, TP53, BACE1, CTSD, MAOA, TMED9, TMEM106B, CASP6, TFEB, CASP3, PTBP1, NGB, MAPK8, MAPK1, DAPK2, MAK16, RBMS3, PNO1, SRRM2, GLP1R, CTNNB1, MGLL, SIRT3, DENR, CNR2, KEAP1, SLC6A4, UTRN, CNTF, CRMP1, OGA, PNPLA6, EPM2A, SLC1A2, LEP, SLC6A3, PREP, AKT1, CLN5, DYRK1A, ITPR1, STH, LY6E, ARSA, HTRA2, DNAJC5, MPO, P4HB, GALC, TRPM2, CHCHD10, AGER, NCL, PTGS2, CHMP2B, ADIPOQ, HDAC9, SGSH, ABHD12, CNR1, TXN, SPP1, WFS1, NRGN, STAT3, TRPV1, EIF2AK3, CX3CL1, TDP1, ATP13A2, VDR, EPHB2, UBB, KL, MS, TAC1, APTX, TTPA, HSP90B2P, DNMT1, PRKCG, DCTN1, SUCLA2, PQBP1, SORT1, MAPK10, VPS13A, CHI3L1, SMUG1, HSPB8, CASP8, ADAM10, KLK6, TRPM7, HMGB1, CST3, REST, STUB1, MIR29A, MIR132, GCHFR, CLN6, HSPD1, TXNIP, ANXA1, SV2A, IL10, UPK3B, IL12A, IREB2, CAMK4, ELP1, SUGP1, BCL2, HAMP, YWHAZ, DNAJB1, MBP, NR1H2, MNAT1, UCP2, CSF1R, AFG3L2, PARK7, MCIDAS, SURF1, UBQLN2, ABCB1, CDCA5, ACE, SST, DKK1, KIF1B, PLA2G1B, TLR2, PLP1, DISC1, SARM1, ATN1, PPARA, EWSR1, DPP4, ATL1, CSTB, CREBBP, FCN2, NPY, HNRNPA1, PTEN, HOXD13, PRKAB1, RHO, REG1A, RIPK1, PRKAA2, IL1A, HDAC3, SI, HSPA1A, HNRNPA2B1, APLN, HSPB1, SYNJ1, TECPR2, IAPP, PSMD2, PTN, SOCS3, MARK4, LGMN, KMO, MAPK3, EPG5, IFNG, PTPN1, EIF2AK2, CCL2, MGAM, NAGLU, TAF15, PRKAA1, HSPA14, CHCHD2, WDR45, COX2, TAT, TYROBP, MTHFR, TYR, GEMIN4, TBP, NOS3, TDO2, TGFB1, S100A1, PDE10A, MSI1, TBK1, POLG, SPTBN2, MCOLN1, KCNC3, CFDP1, MANF, MAP3K12, SPAST, TMEM97, PDYN, VIP, SGSM3, MEFV, MFGE8, PFN1, AHSA1, CD200, PICK1, ALDH2, KIF1A, GLB1, CBLL2, CRH, TAAR1, MUL1, CRP, ATP7A, GPER1, CDNF, ACO2, SESN2, ATF4, PDIA3, GRM5, GRIA2, MIR34A, CBS, HNRNPA1P10, EIF4G2, CX3CR1, CYBB, NR3C1, FOLR2, ALOX5, ADCYAP1, DECR1, ABCA1, AQP4, HDAC2, DYNC1H1, LYST, APEX1, CACNA1A, CASP1, NIPA1, TTBK1, HIF1A, NRG1, DPYSL2, ASPA, DNAJB1P1, FOLR1, HEXA, CYP46A1, MRGPRX3, PLCG2, PLG, PLA2G4A, MRGPRX4, GSTO2, YME1L1, CALB1, TMSB4X, C5, C5AR1, BSCL2, MIR137, DRD2, PON1, TNFRSF1B, TPO, A2M, MIR183, EGFR, CXCR4, GPNMB, SLC11A2, PTK2B, NRTN, NTRK2, WNT1, SLC25A46, SEPSECS, ASAH1, F2R, MTDH, NPC2, GPR166P, VN1R17P, VDAC1, UBQLN1, ERBB2, PDC, PYCARD, PDE4A, DNAH8, PDE7A, SUMO1, CLN8, TYMS, BRAF, PHPT1, POLDIP2, CANT1, RRAS, OXER1, ATXN8OS, EXOSC8, CRK, STIM1, MAPK14, PNKP, CCL11, ZFYVE26, ROS1, PLB1, LPAR3, TACR1, RGS10, HEXD, SGCG, MIR107, SOX3, PCSK9, KDM1A, SNAP25, CETP, GPRC6A, BRAT1, SLC18A2, SGK1, SLC6A2, ACSBG1, SLC2A1, MLKL, CDC42, SPTBN1, PDIK1L, PADI4, RBM3, DBN1, RELN, CASP2, DBH, CD200R1, MAP2K7, LINGO1, TIMM8A, CUX1, CAST, FAM168B, PRKCD, DHCR24, DIO2, DLG4, DAPK1, STIP1, DAG1, CASP9, CYP27A1, PARS2, TMED10, CYP19A1, CLIC4, GPR151, RNF19A, PTPN11, PRDX5, TERT, RIPK3, RAC1, MOK, BDNF-AS, P2RY2, MRGPRX1, MSC, IL4, VPS35, SPG11, IL3, GLE1, MID1, GJA1, MBTPS1, PEA15, BECN1, IL2, ABCD2, MMP9, MMP14, GIP, MOG, SNCAIP, MAD2L1BP, LRPPRC, MTPAP, GH1, IGF2, DNAJB6, MDK, ALS2, NDRG2, HAP1, ADM, ACP3, INSR, RARS2, MTCO2P12, GRIN1, AIFM1, RPSA, SLC52A2, LDLR, GLUL, AGTR1, TUBB4A, CISD1, LPL, LRP1, SLC33A1, VAPB, NARS2, ALB, MAS1, HSD17B10, CCR2, NDUFA1, ABCG2, RNR2, GRAP2, CFH, HGF, SPOAN, PRUNE1, APC, NEDD4, NEFH, HSPA9, HSPA5, ANPEP, ANP32A, HK1, HSPA1B, DNAJB2, ABCA7, AAVS1, SLC25A27, LGR6, AIMP2, HMBS, FZD4, JPH3, BAG3, SNX27, ABL1, BLZF1, ATP6, SLC25A38, OXR1, POLR3A, TMEM189, CIT, LZTS3, RAB21, NDUFS7, CLOCK, UNC13A, PTGES, KIF20B, HES3, TMEM189-UBE2V1, CDC37, SCRN1, TMED10P1, RUFY3, NLRP1, ADAP1, H3P13, DNAJC6, KIF21B, SIRT1-AS, P2RX2, TMEM59, GEN1, DDX19B, NANOS3, PGP, PADI2, GOSR1, RGS6, SLC2A6, C14orf177, NEAT1, NPAS4, MMRN1, STXBP5L, ZNF763, TMEM119, PWAR4, ISG15, IMMT, PDAP1, H3P14, TUSC2, HDAC4, SBNO2, COPD, PSIP1, H3P7, RACK1, SETDB1, CXCL13, RAMP2, COQ7, GDF11, SCGN, ATP6AP2, CEBPZ, NAMPT, TMEM41B, SCA26, SH2B2, SFTPA1, MIR30B, MIR25, CXCR6, MIR21, MIR200A, MIR184, LOC643387, DNAJA2, FIG4, HSPA12A, CLN9, MIR504, CISD2, TUBA1B, CACNG2, KLF2, CLEC10A, NXF1, TFG, KAT5, NOP56, SULT1A4, XRCC6P5, BATF, AKR1A1, SPTLC1, RTN3, PARK12, CTCF, MIR603, MIR155, SLC12A6, SLX1A-SULT1A3, PAPOLA, ARMCX5-GPRASP2, P2RX5-TAX1BP3, TCERG1, NR1H4, ERP29, MVP, SCGB1D4, RBM8A, GDNF-AS1, PGR-AS1, ATXN2-AS, CRYAA2, CLP1, COPS5, LINC01672, RAB10, MRPS30, CYSLTR1, FARS2, MIR146A, MIR144, PPIF, PTGES3, C20orf181, ARPP19, PTPRU, AAA1, CCL27, HPSE, PGRMC1, HBD, ABCB6, AOS, KCNE3, NUP153, NECAB1, MFSD8, SYT14, SYVN1, CCDC115, MINDY4, PPP1R1B, RNF146, ADPRS, OCIAD1, TXNDC5, TESC, GDPD5, DARS2, BHLHB9, SBNO1, ZNF436, ROCK2, NAT10, UBA6, SPTLC3, YOD1, FOXRED1, AMBRA1, PPP4R3A, OPA3, NAXD, IFT122, DNAJC10, TERF2IP, ABLIM2, ADO, NAGPA, RPPH1, CRBN, ABI3, VRK3, BFAR, DNAJC14, NRN1, DCDC2, IL23A, TDP2, ATP6V1H, GDAP1, CIAO2B, RASD1, TPPP3, ORAI1, PARP10, ATP8A2, PTPN5, PANK1, DUOX1, TLR9, TREM1, ASRGL1, ZNF415, SLC8B1, REEP1, ZNF512B, LYNX1, NLN, KIDINS220, TAOK1, SEMA6A, CFAP97, FUNDC2, WNK1, STIM2, DPP10, BCL11B, BIRC6, PORCN, SPG16, MTHFSD, SMURF2, LSM2, PDIA2, SENP2, GORASP1, INF2, SIL1, PROK2, MYORG, SCYL1, L2HGDH, SPHK2, PAG1, CCDC51, SELENOS, HDAC8, ZNF253, PRMT8, SLC2A9, TMPRSS4, TWNK, EFHD2, RETN, FA2H, COLEC11, ACKR3, PCBP4, SLC17A6, RPGRIP1, TIGAR, GGCT, THAP11, GJD2, AICDA, METRN, ABHD6, CHRFAM7A, SDF4, MCU, PLXNB2, CABIN1, SEC14L2, GAREM2, MANEAL, ZNF569, TTBK2, PWAR1, CD2AP, PIWIL4, PRND, HSPBP1, GABARAPL1, MACF1, FBXO7, QPCT, SEMA4A, POLR1A, PPARGC1B, ATL3, SH2B1, ACOT11, ATRNL1, CHD5, OCIAD2, SLC39A14, QPRT, APPL1, MGRN1, FNDC5, NMNAT2, OARD1, FOLH1B, MAST2, RTL3, UBR1, PAOX, RLS1, WWC1, AGTPBP1, ARX, SLC44A1, IDO2, SPATA5, DNAJC13, ZNF629, TOR1AIP2, KCTD7, SIRT5, SLC2A12, NCS1, KCNH4, GPBAR1, GIGYF2, KCNH8, LRSAM1, PADI1, SLC52A3, SLC46A1, PRRT2, PCLO, OPN4, REM1, OSTM1, FLVCR1, FTMT, HIPK2, TMEM230, TBCK, CYGB, PILRB, DNER, NOP53, ERVW-1, DUOX2, MTG1, ASAP1, HDGFL3, GMNN, PLXNA4, ADIPOR1, CYP2U1, GPRASP2, AHSA2P, BBC3, PTPN22, FBXL5, HIBCH, BHLHE23, FGF20, GNL3, SLC17A5, RNF11, FETUB, SIGLEC7, B3GAT1, DKK3, UHRF2, EXOSC6, AGO2, IP6K3, COQ2, TNFRSF21, PDLIM3, APEX2, HPGDS, RAB39B, NXNL1, RABGEF1, ATXN10, SORL1, SH3BP5, GRM4, GLRX, GM2A, GMFB, CXCR3, GPR17, GPR18, MCHR1, GPR26, GPR42, GRK5, GRIK3, GRIN2D, GRM2, GRM3, GSN, HSPA6, GSS, GSTP1, GUSB, HBB, HCLS1, HDAC1, HEXB, UBE2K, HK2, HLA-C, HLA-G, HMGA1, NR4A1, HPX, GLO1, GIPR, CBLIF, GHRH, EPRS1, EREG, ERN1, ESR2, EZH2, F2RL1, F3, F5, F9, FAAH, FABP3, BPTF, FDPS, FGF1, FGF9, FOXO1, FOXO3, FLNB, FOLH1, FOS, FOSB, FPR2, FRAXE, G6PD, GAD1, GAP43, GBAP1, KAT2A, GFER, AGFG1, HSPB2, ENO2, MECP2, KCNN1, KIT, LGALS1, LGALS3, LIFR, LIPC, LMNB1, LMX1B, LOX, LPA, NBR1, MARK1, MCL1, MDM2, MAP3K5, HSP90AB1, KITLG, MGST3, MIF, MLF1, MAP3K11, KMT2A, MMP1, MMP2, MPP1, MPST, MPZ, MRC1, MSH2, MSN, KCNMA1, KCND3, KCNB1, JUND, HTR2A, HTR2C, ICAM1, IRF8, IDE, IDH2, IFIT3, RBPJ, IKBKB, IL1RN, IL2RA, IL2RB, IL7R, CXCL8, IL13, IL13RA1, IL15, IL17A, IL18, INPPL1, IRF4, ISG20, ITGAM, ITGB2, ITIH4, ITPR2, ITPR3, JUN, JUNB, EPHA1, ENG, MST1, C9, ATR, AVP, BAX, BCL2L1, BCL6, BCYRN1, BGN, BLMH, BLVRA, BNIP3, BRCA2, BRS3, BTK, CAPN5, CAD, SEPTIN7, CAPN2, CASP7, CASR, CAV1, CAV2, CD14, CD33, SCARB2, CD38, CD40, CD40LG, CD63, CD68, CDK1, ATP5MC1, ATHS, ARNTL, RHOA, SERPINA3, ACADM, ACOX1, ACP1, ACYP2, ADCYAP1R1, ADORA1, ADORA2A, ADRA1A, ADRA2B, ADRB2, AHR, AHSG, AIF1, AK4, AKT2, ALOX12, ALOX15, ALPP, AMD1, AMD1P2, AMPD2, ANK1, APAF1, APBB1, APLP1, APOA1, KLK3, AQP1, CDK11B, CDC27, MARK2, DMPK, CTBP2, CCN2, CTSB, CTSK, CTSZ, CYP2B6, CYP2D7, CYP2D6, DARS1, DBI, DDX3X, DES, COCH, DLST, DOCK2, CDH1, SLC26A3, DRD1, DUSP2, DUSP6, E2F1, EDN1, EDNRA, EEF1A1, EGF, EIF4E, EIF4G1, ELANE, ELAVL2, ELK1, CST6, SLC25A10, VCAN, CSNK1D, CDH15, CDK2, CDK6, CDK9, CDKN2A, CDKN2D, CEBPD, CETN1, CFL2, CHAT, CHD2, CHGA, CHIT1, CHRM1, CHRNA4, CHRNA7, CISH, CLK1, CCR5, COL11A2, COL17A1, COMT, COX8A, CPN1, CPOX, ATF2, CRHR1, CRYAA, CRYZ, MSRA, MT3, AIM2, TNFRSF1A, TF, TFAM, TFCP2, TFRC, THBS1, THOP1, THY1, TIA1, TIMP1, TIMP2, TIMP3, TKT, TLR1, TLR3, TNR, VEGFB, TPP2, TPR, TPT1, TRAF6, TRPC3, TRPC5, TSC1, TSC2, TUBA4A, UBC, UBE2V1, UBE3A, UCHL3, UNG, TMBIM6, TEAD1, PRDX2, TCF3, SLC9A5, SLC18A1, SLC18A3, SLC20A2, SLPI, SON, NAT2, SOS1, SP100, SPARC, SPG7, SPR, SRF, TRIM21, SSTR4, STAT1, STC1, ELOVL4, STX5, SULT1A3, SUPT4H1, SUPT5H, SYK, SYN1, SYT1, TAF1, TAF2, TAP1, CNTN2, VARS1, VGF, SKIL, USP14, RAB11A, ASAP2, NR1I2, SPHK1, SGPL1, MTMR2, ENDOU, CACNA1G, BSN, MBD2, HSPB3, KALRN, F2RL3, SPAG9, P2RX6, VRK2, SYNGR3, LPAR2, XPR1, NOG, TSPOAP1, PIWIL1, GPR55, KLF4, SLIT2, PPIG, PPT2, COX5A, SELENOF, CYP7B1, PABPC4, RNMT, EIF3A, USO1, VSNL1, WNT2, XBP1, XK, XPNPEP1, YY1, SLC30A3, RAB7A, BAG6, SLC39A7, TFPI2, ARHGEF5, NCOA4, AAAS, CLLS2, GAN, GDF5, TAM, USP9X, EPX, TRRAP, PICALM, BAP1, NR0B2, SUPT3H, OGT, KHSRP, AKR7A2, PRKRA, SLC5A2, SHH, NUDT1, PDE2A, P2RX3, P2RX4, P2RX5, P2RY1, PAEP, PRDX1, PAK1, PAK3, REG3A, PAWR, PAX6, PCBP1, PCBP2, PCSK1, PDE4D, PML, PDE9A, PDK1, SERPINF1, PEX6, PFDN5, SLC25A3, PHEX, PHF1, SERPINI1, PITX2, PLA2G2A, PLA2G5, PLAT, PLS3, P2RX1, OXT, OPRD1, OGG1, MTM1, ND3, ND5, MUTYH, MYOC, PPP1R12A, NACA, NAP1L2, NDN, NDUFAB1, NDUFS8, NEK1, NF2, NFKB1, NNAT, NME3, NQO2, NOS1, NOTCH1, NOTCH3, NOVA1, PNP, NPPA, NPY2R, NTF3, NTRK1, NTS, NR4A2, OGDH, PLXNA2, PMP22, SH3GL3, RPE, RAN, RAP1A, RARB, RARS1, RASA1, RASGRF1, RBBP6, OPN1LW, RELA, RENBP, RNASE4, BRD2, RORC, RPGR, RPS4X, PRRX1, RPS6KB1, RPS25, RPS27A, RREB1, RRM2, RXRA, S100A6, S100A9, S100A10, SCN8A, SCP2, SCT, SRSF7, ITSN1, RAB1A, QARS1, PTPRA, PTPN13, SEPTIN4, POLD1, POU3F2, POU3F4, PPARD, PPIA, PPID, PPP1CB, PPP2CA, PPP2R2B, PPP5C, PRKAR1B, PRKCA, PRKCB, PRKD1, MAPK9, MAP2K5, PRL, PROC, HTRA1, PSD, PSEN2, PSG5, PSMC1, PSMD1, PSMD8, PSMD12, PTK2, PTPN6, H3P17