KEGG   DISEASE: 大動脈弁疾患
エントリ  
H00554                                                             
名称    
大動脈弁疾患;
二尖大動脈弁
概要    
Aortic valve disease (AOVD), also known as bicuspid aortic valve, is the most common congenital heart defect with strong male predominance. It may arise in isolation or in association with other congenital heart lesions. The bicuspid aortic valve is typically made of two unequal-sized leaflets, whereas the normal valve is known to have three leaflets.
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
     LA8A  心室大血管弁または隣接部位の先天異常
      H00554  大動脈弁疾患
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06511  NOTCH シグナリング
   H00554  大動脈弁疾患
パスウェイ 
hsa04330  Notch signaling pathway
ネットワーク
nt06511 NOTCH signaling
病因遺伝子 
(AOVD1) NOTCH1 [HSA:4851] [KO:K02599]
(AOVD2) SMAD6 [HSA:4091] [KO:K04677]
(AOVD3) ROBO4 [HSA:54538] [KO:K06784]
リンク   
ICD-11: LA8A.22
MeSH: D006349
OMIM: 109730 614823 618496
文献    
  著者
Richards AA, Garg V
  タイトル
Genetics of congenital heart disease.
  雑誌
Curr Cardiol Rev 6:91-7 (2010)
DOI:10.2174/157340310791162703
文献    
  著者
Yuan SM, Jing H
  タイトル
The bicuspid aortic valve and related disorders.
  雑誌
Sao Paulo Med J 128:296-301 (2010)
DOI:10.1590/S1516-31802010000500010
文献    
  著者
Siu SC, Silversides CK
  タイトル
Bicuspid aortic valve disease.
  雑誌
J Am Coll Cardiol 55:2789-800 (2010)
DOI:10.1016/j.jacc.2009.12.068
文献    
  著者
Tan HL, Glen E, Topf A, Hall D, O'Sullivan JJ, Sneddon L, Wren C, Avery P, Lewis RJ, ten Dijke P, Arthur HM, Goodship JA, Keavney BD
  タイトル
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
  雑誌
Hum Mutat 33:720-7 (2012)
DOI:10.1002/humu.22030
文献    
  著者
Gould RA, Aziz H, Woods CE, Seman-Senderos MA, Sparks E, Preuss C, Wunnemann F, Bedja D, Moats CR, McClymont SA, Rose R, Sobreira N, Ling H, MacCarrick G, Kumar AA, Luyckx I, Cannaerts E, Verstraeten A, Bjork HM, Lehsau AC, Jaskula-Ranga V, Lauridsen H, Shah AA, Bennett CL, Ellinor PT, Lin H, Isselbacher EM, Lino Cardenas CL, Butcher JT, Hughes GC, Lindsay ME, Mertens L, Franco-Cereceda A, Verhagen JMA, Wessels M, Mohamed SA, Eriksson P, Mital S, Van Laer L, Loeys BL, Andelfinger G, McCallion AS, Dietz HC
  タイトル
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.
  雑誌
Nat Genet 51:42-50 (2019)
DOI:10.1038/s41588-018-0265-y
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