KEGG   DISEASE: Autosomal dominant keratitis
Entry
H01273                      Disease                                
Name
Autosomal dominant keratitis;
Hereditary keratitis
Description
Autosomal dominant keratitis (ADK) is a very rare ocular disorder characterised by corneal opacification and vascularization and by foveal hypoplasia. ADK is associated with mutations in the PAX6 gene, that is essential for ocular morphogenesis.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball anterior segment
   Disorders of the cornea
    9A7Y  Other specified disorders of the cornea
     H01273  Autosomal dominant keratitis
Pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
Gene
PAX6 [HSA:5080] [KO:K08031]
Other DBs
ICD-11: 9A7Y
MeSH: C537022
OMIM: 148190
Reference
PMID:7668281
  Authors
Mirzayans F, Pearce WG, MacDonald IM, Walter MA
  Title
Mutation of the PAX6 gene in patients with autosomal dominant keratitis.
  Journal
Am J Hum Genet 57:539-48 (1995)
Reference
PMID:9482572
  Authors
Prosser J, van Heyningen V
  Title
PAX6 mutations reviewed.
  Journal
Hum Mutat 11:93-108 (1998)
DOI:10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-M
Reference
PMID:11309364
  Authors
Singh S, Chao LY, Mishra R, Davies J, Saunders GF
  Title
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
  Journal
Hum Mol Genet 10:911-8 (2001)
DOI:10.1093/hmg/10.9.911
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