KEGG   DISEASE: Retinal dystrophy and iris coloboma with or without congenital cataract
Entry
H02290                      Disease                                
Name
Retinal dystrophy and iris coloboma with or without congenital cataract
Description
Retinal dystrophy and iris coloboma with or without congenital cataract (RDICC) is an autosomal dominant condition of retinal dystrophy and bilateral coloboma, present in varying degrees. A mutation in microRNA-204 (miR-204) has been identified in all affected individuals. It has been demonstrated that miR-204 is necessary for normal photoreceptor function.
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
     H02290  Retinal dystrophy and iris coloboma with or without congenital cataract
Gene
MIR204 [HSA:406987] [KO:K17166]
Other DBs
ICD-11: 9B70
ICD-10: H35.5
OMIM: 616722
Reference
PMID:26056285
  Authors
Conte I, Hadfield KD, Barbato S, Carrella S, Pizzo M, Bhat RS, Carissimo A, Karali M, Porter LF, Urquhart J, Hateley S, O'Sullivan J, Manson FD, Neuhauss SC, Banfi S, Black GC
  Title
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.
  Journal
Proc Natl Acad Sci U S A 112:E3236-45 (2015)
DOI:10.1073/pnas.1401464112

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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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