| H00635 | |
| H番号 | H00635 |
| 名称 | 無虹彩症 |
| 概要 | Aniridia is a congenital, bilateral ocular malformation defined as iris aplasia or hypoplasia. It can be either isolated or accompanied by other ocular defects. Aniridia is caused by decreased dosage of the PAX6, a master regulatory gene that induces eye formation in a broad range of animals. Recently, it has been reported that aniridia is also caused by heterozygous mutations in the ELP4 gene and TRIM44 gene. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (AN1) PAX6 [HSA:5080] [KO:K08031] (AN2) ELP4 [HSA:26610] [KO:K11375] (AN3) TRIM44 [HSA:54765] [KO:K12020] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA11.3 ICD-10: Q13.1 MeSH: D015783 OMIM: 106210 617141 617142 |
| 文献 | PMID:20132240 著者 Kokotas H, Petersen MB タイトル Clinical and molecular aspects of aniridia. 雑誌 Clin Genet 77:409-20 (2010) DOI:10.1111/j.1399-0004.2010.01372.x PMID:12386836 (PAX6) 著者 Crolla JA, van Heyningen V タイトル Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. 雑誌 Am J Hum Genet 71:1138-49 (2002) DOI:10.1086/344396 PMID:24290376 (ELP4) 著者 Bhatia S, Bengani H, Fish M, Brown A, Divizia MT, de Marco R, Damante G, Grainger R, van Heyningen V, Kleinjan DA タイトル Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. 雑誌 Am J Hum Genet 93:1126-34 (2013) DOI:10.1016/j.ajhg.2013.10.028 PMID:26394807 (TRIM44) 著者 Zhang X, Qin G, Chen G, Li T, Gao L, Huang L, Zhang Y, Ouyang K, Wang Y, Pang Y, Zeng B, Yu L タイトル Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression. 雑誌 Hum Mutat 36:1164-7 (2015) DOI:10.1002/humu.22907 |