KEGG   DISEASE: Retinal dystrophy, juvenile cataracts, and short stature syndrome
Entry
H02292                      Disease                                
Name
Retinal dystrophy, juvenile cataracts, and short stature syndrome
Description
Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS) is an autosomal recessive retinitis pigmentosa with systemic features, including facial dysmorphologies, psychomotor developmental delays, learning disabilities and short stature. RDJCSS is caused by nonsense mutations in retinol dehydrogenase RDH11. In the eye, RDH11 has an oxidoreductive function in the visual cycle.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD21  Syndromes with eye anomalies as a major feature
    H02292  Retinal dystrophy, juvenile cataracts, and short stature syndrome
Pathway
hsa00830  Retinol metabolism
Gene
RDH11 [HSA:51109] [KO:K11152]
Other DBs
ICD-11: LD21.Y
ICD-10: Q87.8
OMIM: 616108
Reference
PMID:24916380
  Authors
Xie YA, Lee W, Cai C, Gambin T, Noupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R
  Title
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
  Journal
Hum Mol Genet 23:5774-80 (2014)
DOI:10.1093/hmg/ddu291

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  All links  
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (1)   
   PubMed (1)   
All databases (4)   

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