KEGG   DISEASE: Retinal dystrophy with or without extraocular anomalies
Entry
H02289                      Disease                                
Name
Retinal dystrophy with or without extraocular anomalies
Description
Retinal dystrophy with or without extraocular anomalies (RDEOA) is an autosomal recessive retinal dystrophy caused by mutations in RCBTB1. In affected individuals, it was found to segregate with retinitis pigmentosa (RP), goiter, primary ovarian insufficiency, and mild intellectual disability. RCBTB1 was shown to be involved in ubiquitination, more specifically as a CUL3 substrate adaptor.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H02289  Retinal dystrophy with or without extraocular anomalies
Gene
RCBTB1 [HSA:55213] [KO:K11494]
Other DBs
ICD-11: 9B70
ICD-10: H35.5
OMIM: 617175
Reference
PMID:27486781
  Authors
Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E
  Title
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
  Journal
Am J Hum Genet 99:470-80 (2016)
DOI:10.1016/j.ajhg.2016.06.017

» Japanese version

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

Download RDF
DBGET integrated database retrieval system