| H01273 | |
| H number | H01273 |
| 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 |
| Network | - |
| Gene | PAX6 [HSA:5080] [KO:K08031] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9A7Y ICD-10: H16.8 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) 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 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 |