KEGG   DISEASE: 進行性心臓伝導障害
エントリ  
H01263                                                             
名称    
進行性心臓伝導障害;
進行性家族性心臓ブロック
概要    
Progressive cardiac conduction defect (PCCD) is a cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system. It leads to complete atrioventricular block causing syncope and sudden death. Mutations in the SCN5A gene encoding the cardiac sodium channel are responsible for Brugada syndrome (BS) and also for PCCD. Furthermore, another PCCD is caused by mutations in TRPM4.
カテゴリ  
循環器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 11 循環器系の疾患
  不整脈
   BC63  伝導疾患
    H01263  進行性心臓伝導障害
パスウェイ 
hsa04261  Adrenergic signaling in cardiomyocytes
病因遺伝子 
(PFHB1A) SCN5A [HSA:6331] [KO:K04838]
(PFHB1B) TRPM4 [HSA:54795] [KO:K04979]
コメント  
Brugada syndrome is described in H00728. [DS:H00728]
リンク   
ICD-11: BC63.Y
OMIM: 113900 604559
文献    
PMID:10471492 (PFHB1A)
  著者
Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H
  タイトル
Cardiac conduction defects associate with mutations in SCN5A.
  雑誌
Nat Genet 23:20-1 (1999)
DOI:10.1038/12618
文献    
PMID:19726882 (PFHB1B)
  著者
Kruse M, Schulze-Bahr E, Corfield V, Beckmann A, Stallmeyer B, Kurtbay G, Ohmert I, Schulze-Bahr E, Brink P, Pongs O
  タイトル
Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I.
  雑誌
J Clin Invest 119:2737-44 (2009)
DOI:10.1172/JCI38292
LinkDB    

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