KEGG   DISEASE: 完全大血管転位症
エントリ  
H00550                                                             
名称    
完全大血管転位症
概要    
Complete transposition of the great arteries is a congenital heart defect with atrioventricular concordance and ventriculoarterial discordance in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle, resulting in severe cyanosis. Transposition of the great arteries (TGA) is frequently associated with other cardiac malformations such as ventricular septal defect. TGA is divided into three groups. Group I is TGA with intact ventricular septum. Group II is TGA with ventricular septal defect (TGA/VSD). Group III is TGA/VSD with pulmonary stenosis.
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
     LA85  房室または心室大血管結合の先天異常
      H00550  完全大血管転位症
指定難病 [jp08407.html]
 H00550
病因遺伝子 
CFC1 [HSA:55997] [KO:K25454]
GDF1 [HSA:2657] [KO:K05495]
リンク   
ICD-11: LA85.1
MeSH: D014188
OMIM: 608808 605376 613854
文献    
  著者
Martins P, Castela E
  タイトル
Transposition of the great arteries.
  雑誌
Orphanet J Rare Dis 3:27 (2008)
DOI:10.1186/1750-1172-3-27
文献    
  著者
Warnes CA
  タイトル
Transposition of the great arteries.
  雑誌
Circulation 114:2699-709 (2006)
DOI:10.1161/CIRCULATIONAHA.105.592352
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    
PMID:11799476 (CFC1)
  著者
Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M
  タイトル
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.
  雑誌
Am J Hum Genet 70:776-80 (2002)
DOI:10.1086/339079
文献    
PMID:17924340 (GDF1)
  著者
Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M
  タイトル
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
  雑誌
Am J Hum Genet 81:987-94 (2007)
DOI:10.1086/522890
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