| H00620 | |
| H number | H00620 |
| Name | Axenfeld-Rieger syndrome |
| Description | Axenfeld-Rieger syndrome (RIEG) is a rare autosomal dominant disorder mainly affecting the anterior segment of the eyes congenitally. The ocular features include malformations of aniridia, coloboma of the iris, and ectopic pupils. Open-angle glaucoma can lead to blindness and is the main target of treatment in RIEG. Defects in other organ systems, typically the craniofacial, dental, and umbilical abnormalities, are also part of the disorder. |
| Category | Congenital malformation |
| Network | - |
| Gene | (RIEG1) PITX2 [HSA:5308] [KO:K04686] (RIEG3) FOXC1 [HSA:2296] [KO:K09396] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA11.2 ICD-10: Q13.8 MeSH: C535679 OMIM: 180500 602482 |
| Reference | PMID:16274491 AUTHORS Hjalt TA, Semina EV TITLE Current molecular understanding of Axenfeld-Rieger syndrome. JOURNAL Expert Rev Mol Med 7:1-17 (2005) DOI:10.1017/S1462399405010082 PMID:19513095 AUTHORS Tumer Z, Bach-Holm D TITLE Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. JOURNAL Eur J Hum Genet 17:1527-39 (2009) DOI:10.1038/ejhg.2009.93 PMID:20831741 AUTHORS Waldron JM, McNamara C, Hewson AR, McNamara CM TITLE Axenfeld-Rieger syndrome (ARS): A review and case report. JOURNAL Spec Care Dentist 30:218-22 (2010) DOI:10.1111/j.1754-4505.2010.00153.x |