| H00676 | |
| H番号 | H00676 |
| 名称 | 先天性原発性無水晶体症 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | FOXE3 [HSA:2301] [KO:K09398] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA12.2 ICD-10: Q12.3 MeSH: C537786 OMIM: 610256 |
| 文献 | PMID:19708017 著者 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 タイトル Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. 雑誌 Hum Mutat 30:1378-86 (2009) DOI:10.1002/humu.21079 PMID:17344231 著者 Medina-Martinez O, Jamrich M タイトル Foxe view of lens development and disease. 雑誌 Development 134:1455-63 (2007) DOI:10.1242/dev.000117 PMID:16826526 著者 Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B タイトル Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. 雑誌 Am J Hum Genet 79:358-64 (2006) DOI:10.1086/505654 |