| H00620 | |
| H番号 | H00620 |
| 名称 | Axenfeld–Rieger 症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (RIEG1) PITX2 [HSA:5308] [KO:K04686] (RIEG3) FOXC1 [HSA:2296] [KO:K09396] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA11.2 ICD-10: Q13.8 MeSH: C535679 OMIM: 180500 602482 |
| 文献 | PMID:16274491 著者 Hjalt TA, Semina EV タイトル Current molecular understanding of Axenfeld-Rieger syndrome. 雑誌 Expert Rev Mol Med 7:1-17 (2005) DOI:10.1017/S1462399405010082 PMID:19513095 著者 Tumer Z, Bach-Holm D タイトル Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. 雑誌 Eur J Hum Genet 17:1527-39 (2009) DOI:10.1038/ejhg.2009.93 PMID:20831741 著者 Waldron JM, McNamara C, Hewson AR, McNamara CM タイトル Axenfeld-Rieger syndrome (ARS): A review and case report. 雑誌 Spec Care Dentist 30:218-22 (2010) DOI:10.1111/j.1754-4505.2010.00153.x |