KEGG   DISEASE: 心臓リアノジン受容体のカルシウム放出異常による心室性不整脈症候群
エントリ  
H02848                                                             
名称    
心臓リアノジン受容体のカルシウム放出異常による心室性不整脈症候群
概要    
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) is a previously unknown disease entity characterized by sudden cardiac death with normal exercise stress testing (EST). It has been reported that VACRDS is caused by loss of function mutations in RYR2 that encodes the cardiac ryanodine receptor. RYR2 governs the release of calcium from the sarcoplasmic reticulum (SR), which is essential for excitation-contraction coupling in the heart.
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
   心室調律異常
    BC7Y  その他の明示された心室調律異常
     H02848  心臓リアノジン受容体のカルシウム放出異常による心室性不整脈症候群
病因遺伝子 
RYR2 [HSA:6262] [KO:K04962]
リンク   
ICD-11: BC7Y
OMIM: 115000
文献    
PMID:33536282
  著者
Sun B, Yao J, Ni M, Wei J, Zhong X, Guo W, Zhang L, Wang R, Belke D, Chen YX, Lieve KVV, Broendberg AK, Roston TM, Blankoff I, Kammeraad JA, von Alvensleben JC, Lazarte J, Vallmitjana A, Bohne LJ, Rose RA, Benitez R, Hove-Madsen L, Napolitano C, Hegele RA, Fill M, Sanatani S, Wilde AAM, Roberts JD, Priori SG, Jensen HK, Chen SRW
  タイトル
Cardiac ryanodine receptor calcium release deficiency syndrome.
  雑誌
Sci Transl Med 13:eaba7287 (2021)
DOI:10.1126/scitranslmed.aba7287
LinkDB    

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