KEGG   DISEASE: 水晶体転位
エントリ  
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
階層分類  
ヒト疾患 [BR:jp08402]
 先天奇形
  眼の先天奇形
   H00662  水晶体転位
ICD-11 による疾患分類 [BR:jp08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA12  Structural developmental anomalies of lens or zonula
     H00662  水晶体転位
病因遺伝子 
FBN1 [HSA:2200] [KO:K06825]
ADAMTSL4 [HSA:54507] [KO:K23369]
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: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
文献    
  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
文献    
  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
文献    
  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

» English version

DBGET integrated database retrieval system