| H00635 | |
| H number | H00635 |
| Name | Aniridia |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (AN1) PAX6 [HSA:5080] [KO:K08031] (AN2) ELP4 [HSA:26610] [KO:K11375] (AN3) TRIM44 [HSA:54765] [KO:K12020] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA11.3 ICD-10: Q13.1 MeSH: D015783 OMIM: 106210 617141 617142 |
| Reference | PMID:20132240 AUTHORS Kokotas H, Petersen MB TITLE Clinical and molecular aspects of aniridia. JOURNAL Clin Genet 77:409-20 (2010) DOI:10.1111/j.1399-0004.2010.01372.x PMID:12386836 (PAX6) AUTHORS Crolla JA, van Heyningen V TITLE Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. JOURNAL Am J Hum Genet 71:1138-49 (2002) DOI:10.1086/344396 PMID:24290376 (ELP4) AUTHORS Bhatia S, Bengani H, Fish M, Brown A, Divizia MT, de Marco R, Damante G, Grainger R, van Heyningen V, Kleinjan DA TITLE Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. JOURNAL Am J Hum Genet 93:1126-34 (2013) DOI:10.1016/j.ajhg.2013.10.028 PMID:26394807 (TRIM44) AUTHORS Zhang X, Qin G, Chen G, Li T, Gao L, Huang L, Zhang Y, Ouyang K, Wang Y, Pang Y, Zeng B, Yu L TITLE Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression. JOURNAL Hum Mutat 36:1164-7 (2015) DOI:10.1002/humu.22907 |