KEGG   DISEASE: Ocular albinism
Entry
H00169                      Disease                                
Name
Ocular albinism
  Subgroup
Ocular albinism type I (OA1)
Waardenburg syndrome type II (WS2A)
Description
Ocular albinism type I is an X-linked disorder characterized by reduced visual acuity, photophobia, nystagmus, translucent irides, strabismus, hypermetropic refractive errors. Waardenburg syndrome type II [DS:H00759] is an autosomal dominant ocular albinism.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  9E1Y  Other specified diseases of the visual system
   H00169  Ocular albinism
Gene
(OA1) GPR143 [HSA:4935] [KO:K08470]
(WS2A) MITF [HSA:4286] [KO:K09455]
Other DBs
ICD-11: 9E1Y
MeSH: D016117
OMIM: 300500
Reference
PMID:7647783 (GPR143)
  Authors
Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A
  Title
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.
  Journal
Nat Genet 10:13-9 (1995)
DOI:10.1038/ng0595-13
Reference
PMID:7874167 (MITF)
  Authors
Tassabehji M, Newton VE, Read AP
  Title
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.
  Journal
Nat Genet 8:251-5 (1994)
DOI:10.1038/ng1194-251
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