KEGG   DISEASE: ブルガダ症候群
エントリ  
H00728                                                             
名称    
ブルガダ症候群
概要    
The Brugada syndrome (BRS) is an autosomal dominant genetic disorder that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. Diagnosis is based on clinical findings. Mutations in nine genes (SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, HCN4, and KCND3) are known to cause BRS. In approximately 20% of the cases BRS is caused by mutations in the SCN5A gene, encoding the cardiac sodium channel.
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
    H00728  ブルガダ症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06528  カルシウムシグナリング
   H00728  ブルガダ症候群
パスウェイ 
hsa04020  Calcium signaling pathway
ネットワーク
nt06528 Calcium signaling
病因遺伝子 
(BRGDA1) SCN5A [HSA:6331] [KO:K04838]
(BRGDA2) GPD1L [HSA:23171] [KO:K00006]
(BRGDA3) CACNA1C [HSA:775] [KO:K04850]
(BRGDA4) CACNB2 [HSA:783] [KO:K04863]
(BRGDA5) SCN1B [HSA:6324] [KO:K04845]
(BRGDA6) KCNE3 [HSA:10008] [KO:K04897]
(BRGDA7) SCN3B [HSA:55800] [KO:K04847]
(BRGDA8) HCN4 [HSA:10021] [KO:K04957]
(BRGDA9) KCND3 [HSA:3752] [KO:K04893]
リンク   
ICD-11: BC65.1
MeSH: D053840
OMIM: 601144 611777 611875 611876 612838 613119 613120 613123 616399
文献    
  著者
Napolitano C, Priori SG
  タイトル
Brugada syndrome.
  雑誌
Orphanet J Rare Dis 1:35 (2006)
DOI:10.1186/1750-1172-1-35
文献    
  著者
Brugada R, Campuzano O, Brugada P, Brugada J, Hong K
  タイトル
Brugada Syndrome
  雑誌
GeneReviews (1993)
文献    
  著者
Kalavakunta JK, Bantu V, Tokala H, Kodenchery M
  タイトル
Sudden cause of cardiac death-be aware of me: a case report and short review on brugada syndrome.
  雑誌
Case Report Med 2010:823490 (2010)
DOI:10.1155/2010/823490
文献    
PMID:1309182
  著者
Brugada P, Brugada J
  タイトル
Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report.
  雑誌
J Am Coll Cardiol 20:1391-6 (1992)
DOI:10.1016/0735-1097(92)90253-J
文献    
PMID:9521325 (SCN5A)
  著者
Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, Potenza D, Moya A, Borggrefe M, Breithardt G, Ortiz-Lopez R, Wang Z, Antzelevitch C, O'Brien RE, Schulze-Bahr E, Keating MT, Towbin JA, Wang Q
  タイトル
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
  雑誌
Nature 392:293-6 (1998)
DOI:10.1038/32675
文献    
PMID:17967977 (GPD1L)
  著者
London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL, Madhusudanan M, Baty CJ, Lagana S, Aleong R, Gutmann R, Ackerman MJ, McNamara DM, Weiss R, Dudley SC Jr
  タイトル
Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.
  雑誌
Circulation 116:2260-8 (2007)
DOI:10.1161/CIRCULATIONAHA.107.703330
文献    
PMID:17224476 (CACNA1C CACNB2)
  著者
Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Haissaguerre M, Schimpf R, Borggrefe M, Wolpert C
  タイトル
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
  雑誌
Circulation 115:442-9 (2007)
DOI:10.1161/CIRCULATIONAHA.106.668392
文献    
PMID:18464934 (SCN1B)
  著者
Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld AC, Pfeufer A, Kaab S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AA, Roden DM, Bezzina CR
  タイトル
Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
  雑誌
J Clin Invest 118:2260-8 (2008)
DOI:10.1172/JCI33891
文献    
PMID:19122847 (KCNE3)
  著者
Delpon E, Cordeiro JM, Nunez L, Thomsen PE, Guerchicoff A, Pollevick GD, Wu Y, Kanters JK, Larsen CT, Hofman-Bang J, Burashnikov E, Christiansen M, Antzelevitch C
  タイトル
Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.
  雑誌
Circ Arrhythm Electrophysiol 1:209-18 (2008)
DOI:10.1161/CIRCEP.107.748103
文献    
PMID:20031595 (SCN3B)
  著者
Hu D, Barajas-Martinez H, Burashnikov E, Springer M, Wu Y, Varro A, Pfeiffer R, Koopmann TT, Cordeiro JM, Guerchicoff A, Pollevick GD, Antzelevitch C
  タイトル
A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype.
  雑誌
Circ Cardiovasc Genet 2:270-8 (2009)
DOI:10.1161/CIRCGENETICS.108.829192
文献    
PMID:19165230 (HCN4)
  著者
Ueda K, Hirano Y, Higashiuesato Y, Aizawa Y, Hayashi T, Inagaki N, Tana T, Ohya Y, Takishita S, Muratani H, Hiraoka M, Kimura A
  タイトル
Role of HCN4 channel in preventing ventricular arrhythmia.
  雑誌
J Hum Genet 54:115-21 (2009)
DOI:10.1038/jhg.2008.16
文献    
PMID:22457051 (KCND3)
  著者
Giudicessi JR, Ye D, Kritzberger CJ, Nesterenko VV, Tester DJ, Antzelevitch C, Ackerman MJ
  タイトル
Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.
  雑誌
Hum Mutat 33:989-97 (2012)
DOI:10.1002/humu.22058
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