KEGG   DISEASE: 家族性特発性心室細動
エントリ  
H00730                                                             
名称    
家族性特発性心室細動
概要    
Idiopathic ventricular fibrillation (IVF) is a syndrome that causes sudden cardiac death in individuals with an apparently normal heart. It has been found that a novel SCN5A missense mutation causes the disease. Recently, IVF linked to the DPP6 gene has been reported.
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
   BC65  遺伝性疾患に伴う不整脈
    H00730  家族性特発性心室細動
パスウェイ 
hsa04261  Adrenergic signaling in cardiomyocytes
病因遺伝子 
(IVF1) SCN5A [HSA:6331] [KO:K04838]
(IVF2) DPP6 [HSA:1804] [KO:K23013]
コメント  
Brugada syndrome [DS:H00728]
リンク   
ICD-11: BC65.4
MeSH: C567851 C567841
OMIM: 603829 612956
文献    
PMID:10940383 (SCN5A)
  著者
Akai J, Makita N, Sakurada H, Shirai N, Ueda K, Kitabatake A, Nakazawa K, Kimura A, Hiraoka M
  タイトル
A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.
  雑誌
FEBS Lett 479:29-34 (2000)
DOI:10.1016/S0014-5793(00)01875-5
文献    
PMID:21512816 (DPP6)
  著者
Postema PG, Christiaans I, Hofman N, Alders M, Koopmann TT, Bezzina CR, Loh P, Zeppenfeld K, Volders PG, Wilde AA
  タイトル
Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6.
  雑誌
Neth Heart J 19:290-6 (2011)
DOI:10.1007/s12471-011-0102-8
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