KEGG   DISEASE: X連鎖心臓弁異形成
エントリ  
H02230                                                             
名称    
X連鎖心臓弁異形成;
X連鎖粘液腫性心臓弁ジストロフィー
  上位グループ
僧帽弁逸脱症 [DS:H01868]
概要    
X-linked cardiac valvular dysplasia is characterized by mitral valve dystrophy frequently associated with degeneration of the aortic valves affecting males and, to a lower severity, females. It has been reported that mutations in FLNA encoding filamin A cause this disease.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  主に1つの体系に影響する構造的発達異常
   循環器系の構造的発達異常
    心臓または大血管の構造的発達異常
     LA87  房室弁または房室中隔の先天異常
      H02230  X連鎖心臓弁異形成
病因遺伝子 
FLNA [HSA:2316] [KO:K04437]
リンク   
ICD-11: LA87
MeSH: C535576
OMIM: 314400
文献    
  著者
Kyndt F, Gueffet JP, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch SA, Newbury-Ecob R, Tran V, Young I, Trochu JN, Le Marec H, Schott JJ
  タイトル
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
  雑誌
Circulation 115:40-9 (2007)
DOI:10.1161/CIRCULATIONAHA.106.622621
文献    
  著者
Trochu JN, Kyndt F, Schott JJ, Gueffet JP, Probst V, Benichou B, Le Marec H
  タイトル
Clinical characteristics of a familial inherited myxomatous valvular dystrophy mapped to Xq28.
  雑誌
J Am Coll Cardiol 35:1890-7 (2000)
DOI:10.1016/S0735-1097(00)00617-3
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