Summaries for Brugada Syndrome

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6Disease Ontology, 30NIH Rare Diseases, 17Genetics Home Reference, 15GeneReviews, 22MalaCards
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NIH Rare Diseases: Brugada syndrome causes a disruption of the heart's normal rhythm. Signs and symptoms usually develop in adulthood and include ventricular arrhythmia that can cause fainting, seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep. The underlying cause of Brugada syndrome can not always be identified. In some cases it is due to mutations in the SCN5A gene. Other cases are not genetic (are not due to a gene mutation), but acquired due to adverse reactions to drugs or associated with very low or high levels of potassium, or high levels of calcium.30

MalaCards: Brugada Syndrome, also known as sudden unexpected nocturnal death syndrome, is related to brugada syndrome 2 and conduction disease. An important gene associated with Brugada Syndrome is SCN1B (sodium channel, voltage-gated, type I, beta subunit), and among its related pathways are Cholera Infection and Axon guidance. The compounds flecainide and propafenone have been mentioned in the context of this disorder. Affiliated tissues include heart, t cells and b cells, and related mouse phenotype cardiovascular system.

Disease Ontology: A heart conduction disease that is characterised by abnormal electrocardiogram (ecg) findings and an increased risk of sudden cardiac death.6

Genetics Home Reference: Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to uncoordinated electrical activity in the heart's lower chambers (ventricles), an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep.17

Wikipedia: The Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram (ECG)...44 more...

GeneReviews summary for brugada

Aliases & Descriptions for Brugada Syndrome

Sources:
6Disease Ontology, 7diseasecard, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 32Novoseek , 43UMLS, 24MeSH, 33OMIM
See all sources

Aliases & Descriptions:

brugada syndrome 6 7 15 30 16 17 8 32
sudden unexpected nocturnal death syndrome 15 30 16 17 43
right bundle branch block, st segment elevation, and sudden death syndrome 30
sudden unexplained death syndrome 17
brugada syndrome (disorder) 43
sudden cardiac death 43
suds 17

Related Diseases for Brugada Syndrome

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13GeneCards, 14GeneDecks
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Disease types for brugada syndrome family:

brugada syndrome 3 brugada syndrome 4
brugada syndrome 1 brugada syndrome 2
brugada syndrome 5 brugada syndrome 6
brugada syndrome 7 brugada syndrome 8

Diseases related to brugada syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1brugada syndrome 232.3GPD1L, SCN5A
2conduction disease31.6CACNB2, SCN3B, SCN5A, SCN1B
3myocardial infarction30.9KCNE1, KCNQ1, KCND3, KCNE2, KCNJ8, SCN5A
4catecholaminergic polymorphic ventricular tachycardia29.9KCNH2, KCNE2, SCN5A
5sick sinus syndrome28.5SCN5A, HCN4
6congenital heart defect28.5SCN5A, KCNE2, KCNQ1, KCNH2, KCNE1
7sudden cardiac death multi-gene panels28.4SCN5A, KCNE2, KCNQ1, KCNH2, KCNE1
8long qt syndrome27.7GPD1L, HCN4, CACNA1C, SCN5A, SCN1B, KCNE2
9sinusitis27.5HCN4, SCN5A, KCNQ1, KCNH2
10ventricular fibrillation27.3SCN1B, SCN5A, SCN3B, GPD1L, CACNB2, HCN4
11syncope26.7HCN4, SCN5A, KCNE2, KCNQ1, KCNH2, KCNE1
12sudden infant death syndrome25.9KCNE1, KCNH2, KCNQ1, KCND3, KCNE2, KCNJ8
13atrial fibrillation25.5KCNE2, SCN1B, SCN5A, SCN3B, HCN4, CACNA1C
14long qt syndrome 213.4SCN5A, KCNH2
15congenital heart block13.3SCN5A, KCNH2
16hyperkalemic periodic paralysis13.3KCNE3, SCN1B
17migraine without aura13.2CACNB2, ANK3
18sinus bradycardia syndrome13.1KCNQ1, KCNH2
19short qt syndrome13.0KCNQ1, KCNH2
20fibrillary astrocytoma13.0SCN5A, KCNQ1
21hypokalemic periodic paralysis13.0KCNE3, CACNA1C
22alpha 1-antitrypsin deficiency12.9SCN5A, KCNH2
23timothy syndrome12.9CACNA1C, PSMC4
24jervell-lange nielsen syndrome12.9KCNQ1, KCNE1
25familial atrial fibrillation12.7KCNQ1, KCNE2, SCN5A
26supravalvular aortic stenosis12.7SCN5A, KCNH2
27congenital deafness with labyrinthine aplasia, microtia, and microdontia12.7KCNE1, KCNQ1
28conduct disorder12.7SCN5A, KCNQ1, KCNH2
29hypokalemia12.4KCNQ1, KCNH2, KCNE3, KCNE1
30heart block12.3KCNE1, KCNQ1, KCNE2, SCN5A
31gastroparesis12.2KCNE1, KCNH2, KCNQ1, KCNE2
32epilepsy syndrome12.2KCNH2, KCNQ1, SCN1B, PSMC4
33episodic ataxia12.1KCNH2, KCND3, PSMC4
34right bundle branch block12.1SCN3B, GPD1L, CACNB2, HCN4, CACNA1C, SCN5A
35long qt syndrome 112.1SCN5A, KCNE2, KCNQ1, KCNH2, KCNE1
36noonan syndrome12.0CACNA1C, HCN4, PKP2, CACNB2, SCN5A, KCNH2
37aldosteronism12.0HCN4, GPD1, KCNQ1, KCNE1
38fainting11.9KCNE3, KCNH2, SCN1B, SCN5A, SCN3B, GPD1L
39cardiomyopathy10.0
40arrhythmogenic right ventricular dysplasia/cardiomyopathy multi-gene panels9.5KCNE1, KCNE3, KCNH2, KCNQ1, KCND3, KCNE2
41neuronitis9.4CACNA1C, PSMC4, HCN4, CACNB2, ANK3, SCN3B
42hypertrophic cardiomyopathy9.1
43acute myocardial infarction8.8
44brugada syndrome 38.1
45brugada syndrome 48.1
46dilated cardiomyopathy7.9
47brugada syndrome 17.8
48brugada syndrome 57.8
49brugada syndrome 67.8
50brugada syndrome 77.8

Graphical network of the top 20 diseases related to brugada syndrome:



Graphical network of diseases related to brugada syndrome

Clinical Features for Brugada Syndrome

Drugs & Therapeutics for Brugada Syndrome

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Genetic Tests for Brugada Syndrome

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16GeneTests
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Genetic tests related to brugada syndrome:

id Genetic test Affiliating Genes
1 Brugada Syndrome
clinical/research
KCNE3, SCN1B, SCN5A, SCN3B, GPD1L, CACNB2, HCN4, CACNA1C

Anatomical Context for Brugada Syndrome

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22MalaCards
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MalaCards organs/tissues related to brugada syndrome:

22
Heart, T cells, B cells

Phenotypes for genes affiliated with Brugada Syndrome

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25MGI
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MGI Mouse Phenotypes related to brugada syndrome:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1cardiovascular system phenotypeMP:0005385INFKCNE1, HCN4, PKP2, CACNB2, SCN3B, SCN5A

Publications for genes affiliated with Brugada Syndrome

Sources:
35PubMed
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Articles related to brugada syndrome:

(show top 50)    (show all 125)
idTitleAuthorsYearAffiliating Genes
1MOG1: a new susceptibility gene for Brugada syndrome. (21447824)Kattygnarath D.... Guicheney P.2011RANGRF
2Identification of six novel SCN5A mutations in Japane se patients with Brugada syndrome. (21321465)Nakajima T.... Kurabayashi M.2011SCN5A
3Prospective evaluation of the familial prevalence of the brugada syndrome. (21126620)Hermida J.S.... Jarry G.2010SCN5A
4An international compendium of mutations in the SCN5A -encoded cardiac sodium channel in patients referred for Brugada syndrome genet ic testing. (20129283)Kapplinger J.D.... Ackerman M.J.2010SCN5A
5SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. (20031634)Probst V.... Schott J.J.2009SCN5A
6Genetic modulation of brugada syndrome by a common po lymorphism. (19549036)Lizotte E.... Brugada R.2009SCN5A
7A novel SCN5A mutation V1340I in Brugada syndrome aug menting arrhythmias during febrile illness. (19648062)Samani K.... Vatta M.2009SCN5A
8The genetic basis of Brugada syndrome: a mutation upd ate. (19606473)Hedley P.L.... Christiansen M.2009GPD1L
9Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A. (19279983)Tfelt-Hansen J.... Haunso S.2009SCN5A
10Dynamic change in ST-segment and spontaneous occurrence of ventricular fibrillation in Brugada syndrome with a novel nonsense mutation in the SCN5A gene during long-term follow-up. (19075524)Kawamura M.... Horie M.2009SCN5A
11Atrial fibrillation in patients with Brugada syndrome relationships of gene mutation, electrophysiology, and clinical backgrounds. (18355654)Kusano K.F.... Ohe T.2008SCN5A
12Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome. (18252757)Petitprez S.... Kucera J.P.2008SCN5A
13Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation. (17854786)Casini S.... Veldkamp M.W.2007SCN5A
14A sodium channel pore mutation causing Brugada syndrome. (17198989)Pfahnl A.E.... Dudley S.C. Jr.2007SCN5A
15Brugada syndrome unmasked by accidental inhalation of gasoline vapors. (17897138)Kranjcec D.... Abriel H.2007SCN5A
16Brugada syndrome and work place: two case report (17886758)Martini A.... Fantini S.2007SCN5A
17A novel mutation in the SCN5A gene is associated with Brugada syndrome. (17141278)Shin D.J.... Yoon S.K.2007SCN5A
18Long QT and Brugada syndrome gene mutations in New Zealand. (17905336)Chung S.K.... Rees M.I.2007KCNQ1, KCNH2, KCNE1
19Sodium channel kinetic changes that produce Brugada syndrome or progressive cardiac conduction system disease. (16877553)Zhang Z.S.... Grant A.O.2007SCN5A
20Monomorphic ventricular tachycardia due to Brugada syndrome successfully treated by hydroquinidine therapy in a 3-year-old child. (16426410)Probst V.... Le Marec H.2006SCN5A
21A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation. (16616735)Keller D.I.... Chahine M.2006SCN5A
22Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation. (16643399)Probst V.... Le Marec H.2006SCN5A
23A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. (15910881)Smits J.P.... Wilde A.A.2005SCN5A
24Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties. (16266370)Amin A.S.... Tan H.L.2005SCN5A
25Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome. (15808832)Hong K.... Brugada R.2005SCN5A
26Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations. (15890323)Keller D.I.... Abriel H.2005SCN5A
27A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state. (16239976)Keller D.I.... Chahine M.2005SCN5A
28A novel missense mutation in the SCN5A gene associated with Brugada syndrome bidirectionally affecting blocking actions of antiarrhythmic drugs. (15877619)Itoh H.... Imoto K.2005SCN5A, PSMC4
29Double SCN5A mutation underlying asymptomatic Brugada syndrome. (15851320)Yokoi H.... Tsutsui H.2005SCN5A
30Structural heart disease, SCN5A gene mutations, and Brugada syndrome: a complex mAcnage A trois. (16344397)Saffitz J.E.2005SCN5A
31Brugada syndrome (16001781)Atarashi H.2005SCN5A
32Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A:. (15028074)Hong K.... Brugada R.2004SCN5A
33Single nucleotide polymorphisms of the SCN5A gene in Han Chinese and their relation with Brugada syndrome. (15161528)Chen J.Z.... Guo X.G.2004SCN5A
34PCR-based site-directed mutagenesis and recombinant expression plasmid construction of a SCN5A mutation (K317N) identified in a Chinese family with Brugada syndrome (14625171)Yi S.D.... Peng J.2003SCN5A
35Electrical alternans in long QT syndrome resembling a Brugada syndrome pattern. (14516346)Schulze-Bahr E.... Borggrefe M.2003KCNQ1
36Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects. (12639704)Takahata T.... Tateishi T.2003SCN5A
37Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. (12106943)Smits J.P.P.... Wilde A.A.M.2002SCN5A
38Novel mutations in domain I of SCN5A cause Brugada syndrome. (12051963)Vatta M.... Towbin J.A.2002SCN5A
39Brugada's syndrome: epidemiology, risk stratification, and clinical management (12407860)Grillo M.... Priori S.G.2002SCN5A
40Long QT syndrome and Brugada syndrome: 2 aspects of the same disease? (11307783)Cerrone M.... Priori S.G.2001SCN5A
41Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome. (11405394)Van Den Berg M.P.... Crijns H.J.2001SCN5A
42Biophysical phenotypes of SCN5A mutations causing long QT and Brugada syndromes. (11150514)Baroudi G.... Chahine M.2000SCN5A
43Brugada syndrome without mutation of the cardiac sodium channel gene in a Taiwanese patient. (11155778)Chen S.M.... Chiang F.T.2000SCN5A
44SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells. (10664447)Baroudi G.... Chahine M.2000SCN5A
45Enhanced Na(+) channel intermediate inactivation in Brugada syndrome. (11029409)Wang D.W.... George A.L.2000SCN5A
46A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. (10940383)Akai J.... Hiraoka M.2000SCN5A
47The elusive link between LQT3 and Brugada syndrome: t he role of flecainide challenge. (10961955)Priori S.G.... Ronchetti E.2000SCN5A
48Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. (10532948)Dumaine R.... Antzelevitch C.1999SCN5A
49Transmural dispersion of repolarization and arrhythmogenicity: the Brugada syndrome versus the long QT syndrome. (10688320)Antzelevitch C.... Shimizu W.1999SCN5A
50Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. (10690282)Rook M.B.... Wilde A.A.M.1999SCN5A

Expression for genes affiliated with Brugada Syndrome

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Brugada Syndrome

Pathways for genes affiliated with Brugada Syndrome

Sources:
36QIAGEN, 38Reactome, 34PharmGKB, 20KEGG, 10EMD Millipore
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Compounds for genes affiliated with Brugada Syndrome

Sources:
32Novoseek , 34PharmGKB, 9DrugBank, 42Tocris Bioscience, 18HMDB
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Compounds related to brugada syndrome according to GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1flecainide32 34 9 9 13.3SCN5A, KCNH2
2propafenone32 34 9 9 13.3KCNH2, SCN5A
3mexiletine32 9 9 12.3SCN5A, KCNH2
4flecainide acetate42 10.2SCN3B, SCN5A, SCN1B
5ralfinamide mesylate42 10.2SCN3B, SCN5A, SCN1B
6qx 314 chloride42 10.2SCN3B, SCN5A, SCN1B
7Magnesium Sulfate9 9 11.2CACNB2, CACNA1C
8tetrodotoxin citrate42 10.2SCN3B, SCN5A, SCN1B
9vinpocetine32 42 11.2SCN3B, SCN5A, SCN1B
10ibutilide32 9 9 12.2CACNA1C, KCNH2
11zonisamide32 9 9 12.1SCN1B, SCN5A, SCN3B
12nisoldipine32 9 9 12.1CACNA1C, CACNB2
13clofilium32 10.0KCNH2, KCNQ1
14cisapride32 42 9 9 13.0KCNH2, SCN5A
15isradipine32 9 42 9 12.9CACNB2, CACNA1C
16chromanol32 9.8KCNQ1, KCNE1
17nilvadipine32 9 9 11.8CACNA1C, CACNB2
18verapamil32 34 9 18 9 13.8KCNH2, SCN5A, CACNB2, CACNA1C
19quinidine32 34 9 9 12.8PSMC4, SCN5A, KCNH2
20indapamide32 9 9 11.8KCNQ1, KCNE1
21bepridil32 9 9 11.8KCNH2, KCNQ1
22mibefradil32 9 9 11.8CACNB2, PSMC4, CACNA1C
23chromanol 293b42 32 10.7KCNQ1, KCNE1
24nimodipine32 9 42 9 12.6CACNB2, CACNA1C
25disopyramide32 9 9 11.6SCN5A, KCND3
26tetraethylammonium32 9.5PSMC4, KCNQ1, KCNH2
27isoleucine32 9.3KCNH2, KCNQ1, SCN5A, PSMC4
28kn-9342 9.0KCNE1, KCNE3, KCND3, KCNE2
294-aminopyridine32 42 9.7KCNE2, KCND3, KCNH2, KCNE3, KCNE1
30am 92016 hydrochloride42 8.4KCNE2, KCND3, KCNQ1, KCNE3, KCNE1
31sodium32 18 8.5SCN3B, ANK3, HCN4, PSMC4, SCN5A, SCN1B
32calcium32 9 18 9 10.2CACNA1C, PSMC4, CACNB2, GPD1, SCN5A, SCN1B
33potassium32 9 18 9 INFKCNE1, PSMC4, HCN4, SCN5A, SCN1B,
34katp32 INFKCNH2, KCNQ1,

GO Terms for genes affiliated with Brugada Syndrome

Sources:
12Gene Ontology
See all sources

Cellular components related to brugada syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel complexGO:0015189.9SCN1B, SCN5A, SCN3B
2glycerol-3-phosphate dehydrogenase complexGO:0093319.9GPD1L, GPD1
3intercalated discGO:0147049.6ANK3, SCN5A, RANGRF
4T-tubuleGO:0303159.6SCN5A, ANK3, CACNA1C
5sarcolemmaGO:042383INFKCNQ1, KCND3, , SCN5A, ANK3, CACNB2
6plasma membraneGO:005886INFSCN3B, ANK3, PKP2, HCN4, CACNA1C, SCN5A
7voltage-gated potassium channel complexGO:008076INF, KCNE2, KCND3, KCNQ1, KCNH2, KCNE1

Biological processes related to brugada syndrome according to GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization involved in regulation of action potentialGO:08601010.2SCN5A, SCN3B
2SA node cardiomyocyte to atrial cardiomyocyte communicationGO:08607010.2SCN5A, SCN3B
3membrane depolarization involved in regulation of cardiac muscle cell action potentialGO:08601210.2SCN3B, SCN5A, SCN1B
4regulation of ventricular cardiac muscle cell action potentialGO:08600510.1SCN3B, SCN5A
5regulation of cardiac muscle cell action potential involved in contractionGO:08600210.1SCN3B, SCN5A, SCN1B
6glycerol-3-phosphate catabolic processGO:04616810.1GPD1L, GPD1
7regulation of atrial cardiomyocyte membrane depolarizationGO:06037110.1SCN3B, SCN5A, SCN1B
8sodium ion transmembrane transportGO:03572510.1SCN1B, SCN5A, SCN3B
9regulation of ventricular cardiomyocyte membrane depolarizationGO:06037310.0SCN3B, SCN5A
10cardiac muscle contractionGO:06004810.0SCN3B, SCN5A, SCN1B
11regulation of sodium ion transmembrane transporter activityGO:200064910.0RANGRF, SCN1B, SCN3B
12regulation of ventricular cardiomyocyte membrane repolarizationGO:06030710.0SCN1B, SCN5A
13regulation of heart rate by cardiac conductionGO:0860919.9KCNH2, SCN1B, SCN5A, SCN3B
14membrane depolarizationGO:0518999.7KCNE1, SCN1B, SCN5A, SCN3B
15regulation of potassium ion transportGO:0432669.7ANK3, KCNE3
16potassium ion exportGO:0714359.6KCNQ1, KCNE1
17axon guidanceGO:0074119.5SCN1B, SCN3B, CACNB2, CACNA1C
18regulation of heart contractionGO:0080168.9HCN4, KCNE2, KCNQ1, KCNH2, KCNE1
19blood circulationGO:0080158.9HCN4, KCNE2, KCNQ1, KCNH2, KCNE1
20muscle contractionGO:0069368.9HCN4, KCNE2, KCNQ1, KCNH2, KCNE1
21synaptic transmissionGO:007268INFHCN4, CACNB2, SCN1B, , KCND3, KCNQ1
22potassium ion transportGO:006813INF, KCNE2, KCND3, KCNH2

Molecular functions related to brugada syndrome according to GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potentialGO:08600610.0SCN3B, SCN5A, SCN1B
2glycerol-3-phosphate dehydrogenase [NAD+] activityGO:0043679.8GPD1L, GPD1
3sodium channel regulator activityGO:0170809.8RANGRF, SCN1B, SCN3B
4voltage-gated sodium channel activityGO:0052489.7SCN5A, SCN3B
5ion channel bindingGO:0443259.5RANGRF, SCN5A, SCN3B, ANK3
6potassium channel regulator activityGO:0154599.4KCNE2, KCNE3, KCNE1
7delayed rectifier potassium channel activityGO:0052519.4KCNQ1, KCNH2, KCNE1
8voltage-gated potassium channel activityGO:0052498.6KCNE1, KCNE3, KCNH2, KCNQ1, KCNE2, HCN4
9inward rectifier potassium channel activityGO:005242INFKCNH2,

Sources for Brugada Syndrome

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS