| H00662 | |
| H番号 | H00662 |
| 名称 | 水晶体転位 |
| 概要 | Ectopia lentis (EL) is defined as displacement or malposition of the crystalline lens of the eye and is inherited in either autosomal recessive or autosomal dominant manner. Subluxation of the lens is slowly progressive in the first two decades of life. EL may occur as an isolated form or as a part of disorders. Up to about 80% of Marfan syndrome (MFS) patients have bilateral EL. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (ECTOL1) FBN1 [HSA:2200] [KO:K06825] (ECTOL2) ADAMTSL4 [HSA:54507] [KO:K23369] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | For Marfan syndrome, see H00653. |
| リンク | ICD-11: LA12.Y ICD-10: Q12.1 MeSH: D004479 OMIM: 129600 225100 |
| 文献 | PMID:14502058 著者 Young TL タイトル Ophthalmic genetics/inherited eye disease. 雑誌 Curr Opin Ophthalmol 14:296-303 (2003) DOI:10.1097/00055735-200310000-00011 PMID:7802039 著者 Edwards MJ, Challinor CJ, Colley PW, Roberts J, Partington MW, Hollway GE, Kozman HM, Mulley JC タイトル Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. 雑誌 Am J Med Genet 53:65-71 (1994) DOI:10.1002/ajmg.1320530114 PMID:15054843 (ECTOL1) 著者 Ades LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B タイトル Ectopia lentis phenotypes and the FBN1 gene. 雑誌 Am J Med Genet A 126A:284-9 (2004) DOI:10.1002/ajmg.a.20605 PMID:19200529 (ECTOL2) 著者 Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H タイトル A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. 雑誌 Am J Hum Genet 84:274-8 (2009) DOI:10.1016/j.ajhg.2009.01.007 |