| H00449 | |
| H number | H00449 |
| Name | Oculodentodigital dysplasia |
| Description | Oculodentodigital dysplasia (ODDD) is an inherited disorder involving characteristic facial appearance and abnormalities of eyes, teeth, and limbs. The disease is inherited in both an autosomal dominant and recessive fashion. ODDD is caused by mutations in the gap junction alpha 1 gene. |
| Category | Congenital malformation |
| Network | - |
| Gene | GJA1 [HSA:2697] [KO:K07372] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD27.0Y ICD-10: Q87.8 MeSH: C563160 OMIM: 164200 257850 |
| Reference | PMID:15512999 AUTHORS Frasson M, Calixto N, Cronemberger S, de Aguiar RA, Leao LL, de Aguiar MJ TITLE Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance. JOURNAL Ophthalmic Genet 25:227-36 (2004) DOI:10.1080/13816810490513424 PMID:19338053 AUTHORS Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW TITLE GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. JOURNAL Hum Mutat 30:724-33 (2009) DOI:10.1002/humu.20958 |