| H00676 | |
| H number | H00676 |
| Name | Congenital primary aphakia |
| Description | Congenital primary aphakia (CPA) is a rare congenital eye disorder characterized by the absence of lens. Formation of lens and lens-induced anterior structures does not take place in CPA, resulting in complete aplasia of the anterior segment of the eye. CPA is caused by mutations in FOXE3, a lens-specific transcription factor. |
| Category | Congenital malformation |
| Network | - |
| Gene | FOXE3 [HSA:2301] [KO:K09398] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA12.2 ICD-10: Q12.3 MeSH: C537786 OMIM: 610256 |
| Reference | PMID:19708017 AUTHORS Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nurnberg G, Kluck C, Herbert H, Martin A, Hussain MS, Collin JR, Lathrop M, Nurnberg P, Ragoussis J, Ragge NK TITLE Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. JOURNAL Hum Mutat 30:1378-86 (2009) DOI:10.1002/humu.21079 PMID:17344231 AUTHORS Medina-Martinez O, Jamrich M TITLE Foxe view of lens development and disease. JOURNAL Development 134:1455-63 (2007) DOI:10.1242/dev.000117 PMID:16826526 AUTHORS Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B TITLE Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. JOURNAL Am J Hum Genet 79:358-64 (2006) DOI:10.1086/505654 |