KEGG   DISEASE: Choroideremia
Entry
H01116                      Disease                                
Name
Choroideremia;
Tapetochoroidal dystrophy
Description
Choroideremia (CHM) is an X-linked retinal dystrophy characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium and photoreceptors. CHM is caused by mutations in the CHM gene, which encodes a protein involved in vesicular trafficking.
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 choroid
    9B61  Choroidal dystrophy
     H01116  Choroideremia
Gene
CHM [HSA:1121] [KO:K23460]
Other DBs
ICD-11: 9B61
ICD-10: H31.2
MeSH: D015794
OMIM: 303100
Reference
PMID:22017263
  Authors
Coussa RG, Traboulsi EI
  Title
Choroideremia: a review of general findings and pathogenesis.
  Journal
Ophthalmic Genet 33:57-65 (2012)
DOI:10.3109/13816810.2011.620056

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

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