SUDS
MCID: BRG001
MIFTS: 56

Brugada Syndrome (SUDS) malady

Summaries for Brugada Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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. last updated: 5/26/2011

MalaCards: Brugada Syndrome, also known as sudden unexpected nocturnal death syndrome, is related to long qt syndrome and right bundle branch block. An important gene associated with Brugada Syndrome is SCN1B (sodium channel, voltage-gated, type I, beta subunit), and among its related pathways are Synaptic transmission: ion currents and Transmission across Chemical Synapses. The compounds Magnesium Sulfate and flecainide have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related mouse phenotype cardiovascular system.

Disease Ontology:8 A heart conduction disease that is characterised by abnormal electrocardiogram (ecg) findings and an increased risk of sudden cardiac death.

Genetics Home Reference:21 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.

Wikipedia:63 The Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram (ECG)... more...

Description from OMIM:46 612838, 611777, 601144, 613119, 611875 613123, 613120, 611876 more

GeneReviews summary for brugada

Aliases & Classifications for Brugada Syndrome

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 34MeSH
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Aliases & Descriptions:

brugada syndrome 8 19 42 20 22 21 10 44 60
sudden unexpected nocturnal death syndrome 19 42 21 60
right bundle branch block, st segment elevation, and sudden death syndrome 42
sudden unexplained death syndrome 21
suds 21


External Ids:

Disease Ontology8 DOID:0050451
MeSH34 D053840

Related Diseases for Brugada Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Brugada Syndrome 1 family:

brugada syndrome Brugada Syndrome 3
Brugada Syndrome 4 Brugada Syndrome 5
Brugada Syndrome 6 Brugada Syndrome 7
Brugada Syndrome 2 Scn5a-Related Brugada Syndrome
Brugada Syndrome 8

Diseases related to Brugada Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1long qt syndrome30.9SCN4B, SCN5A, CACNA1C, KCNE1L, KCNE2, KCNE3
2right bundle branch block30.8SCN5A
3brugada syndrome 330.6CACNA1C
4brugada syndrome 230.6GPD1L
5sick sinus syndrome30.5HCN4, SCN5A
6epilepsy syndrome30.4SCN2B, KCNH2
7sudden cardiac death multi-gene panels29.9KCNE1, KCNH2, SCN5A
8brugada syndrome 410.4
9brugada syndrome 110.4
10brugada syndrome 510.4
11brugada syndrome 610.4
12brugada syndrome 710.4
13brugada syndrome 810.4
14wolff-parkinson-white syndrome10.3
15hypokalemia10.3
16short qt syndrome10.2
17catecholaminergic polymorphic ventricular tachycardia10.2
18arrhythmogenic right ventricular dysplasia10.1
19adult syndrome10.1
20ischemia10.1
21sleep disorder10.1
22image syndrome10.1
23scn5a-related brugada syndrome10.1
24liver disease10.0
25diabetic ketoacidosis10.0
26cellulitis10.0
27cerebritis10.0
28arts syndrome10.0
29dyspepsia10.0
30pemphigus10.0
31conduct disorder10.0
32neuronitis10.0
33chronic myeloid leukemia10.0
34hypercalcemia10.0
35n syndrome10.0
36shigellosis10.0
37autonomic neuropathy10.0
38cholangiocarcinoma10.0
39influenza10.0
40leukemia10.0
41myeloid leukemia10.0
42myotonic dystrophy10.0
43neuropathy10.0
44pericarditis10.0
45pneumonia10.0
46spinocerebellar ataxia10.0
47myotonic dystrophy type 110.0
48sick sinus syndrome 210.0HCN4
49sudden infant death syndrome10.0KCNJ8, SCN5A, GPD1L
50familial atrial fibrillation10.0SCN5A, KCNE2

Graphical network of the top 20 diseases related to Brugada Syndrome:



Diseases related to brugada syndrome

Clinical Features for Brugada Syndrome

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46OMIM
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Clinical features from OMIM:

612838,611777,601144,613119,611875,613123,613120,611876

Drugs & Therapeutics for Brugada Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Brugada Syndrome

Drug clinical trials:

Search ClinicalTrials for Brugada Syndrome

Search NIH Clinical Center for Brugada Syndrome

Search CenterWatch for Brugada Syndrome

Genetic Tests for Brugada Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Brugada Syndrome:

id Genetic test Affiliating Genes
1 Brugada Syndrome Multi-Gene Panels20
2 Brugada Syndrome20 22 SCN5A

Anatomical Context for Brugada Syndrome

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32MalaCards
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MalaCards organs/tissues related to Brugada Syndrome:

32
Heart, Testes, Brain, Eye, Myeloid

Animal Models for Brugada Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Brugada Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1HCN4, SCN3B, SCN5A, CACNB2, CACNA1C, KCNH2

Publications for Brugada Syndrome

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50PubMed
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Articles related to Brugada Syndrome:

(show top 50)    (show all 605)
idTitleAuthorsYear
1
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. (24136861)
2014
2
Brugada syndrome in a family with a high mortality rate: a case report. (23506330)
2013
3
Prognostic value of programmed ventricular stimulation in Brugada syndrome according to clinical presentation: an updated meta-analysis of worldwide published data. (23642819)
2013
4
Is a novel SCN3B mutation commonly found in SCN5A-negative Brugada syndrome patients? (23449374)
2013
5
Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome. (23424222)
2013
6
Fever and the electrocardiogram: what about Brugada syndrome? (23911895)
2013
7
Prevalence, clinical characteristics and management of atrial fibrillation in patients with Brugada syndrome. (23206922)
2013
8
Brugada syndrome with elevated cardiac biomarkers. (23814205)
2013
9
Brugada syndrome: an update. (23463977)
2013
10
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. (23872634)
2013
11
A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome. (22984773)
2013
12
The management of Brugada syndrome unmasked by fever in a patient with cellulitis. (23563123)
2013
13
Implantable cardioverter defibrillator shock embolizes an atrial septal occluder device in Brugada syndrome. (22797521)
2013
14
Cardiac autonomic control in Brugada syndrome patients during sleep: the effects of sleep disordered breathing. (23669108)
2013
15
Brugada syndrome 2012. (22789973)
2012
16
Use of implantable loop recorders in patients with Brugada syndrome and suspected risk of ventricular arrhythmia. (21979995)
2012
17
Insights into the location of type I ECG in patients with Brugada syndrome: correlation of ECG and cardiovascular magnetic resonance imaging. (22119454)
2012
18
Brugada syndrome unmasked by febrile illness in a previously healthy male patient with history of syncope. (22791657)
2012
19
Unexpected dominance: Brugada syndrome SCN5A variants exert negative dominance via I+-subunit interaction. (22871588)
2012
20
Is quinidine the ideal drug for brugada syndrome? (23063867)
2012
21
It took a RedBull to unmask Brugada syndrome. (22465350)
2012
22
Brugada syndrome coinciding with fever and pandemic (H1N1) influenza. (21220437)
2011
23
Brugada syndrome--a review of the implications for the anaesthetist. (21823372)
2011
24
New familial heterozygous c 4066_4068 delTT 2 bp deletion of the SCN5A gene causing Brugada syndrome. (21397042)
2011
25
Brugada syndrome unmasked by fever. (21882788)
2011
26
Influence of circumferential pulmonary vein isolation for atrial fibrillation on ST elevation in patient with Brugada syndrome. (19439380)
2011
27
On the intriguing phenotypic manifestations of Brugada syndrome and the diagnostic value of the electrocardiogram. (22093506)
2011
28
Brugada syndrome caused by a large deletion in SCN5A only detected by multiplex ligation-dependent probe amplification. (21288276)
2011
29
How to perform and interpret provocative testing for the diagnosis of Brugada syndrome, long-QT syndrome, and catecholaminergic polymorphic ventricular tachycardia. (22203660)
2011
30
Ventricular flutter in a child with Brugada syndrome. (20371143)
2010
31
Augmented ST-segment elevation during recovery from exercise predicts cardiac events in patients with Brugada syndrome. (21029874)
2010
32
Brugada syndrome with aborted sudden cardiac death related to liquorice-induced hypokalemia. (20881418)
2010
33
A phenotypic combination of idiopathic VF and Brugada syndrome. (20230473)
2010
34
Derive right precordial leads at higher intercostal spaces from 12-lead system for diagnosis of Brugada syndrome. (21096175)
2010
35
Brugada syndrome and fitness to fly: risk stratification in two pilot applicants. (20681241)
2010
36
Increased right ventricular repolarization gradients promote arrhythmogenesis in a murine model of Brugada syndrome. (20384647)
2010
37
Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org). (19716089)
2009
38
Empiric quinidine therapy for asymptomatic Brugada syndrome: time for a prospective registry. (19251219)
2009
39
High-density substrate mapping in Brugada syndrome: combined role of conduction and repolarization heterogeneities in arrhythmogenesis. (19564561)
2009
40
Atrial fibrillation and Brugada syndrome. (18355651)
2008
41
Fever increases the risk for cardiac arrest in the Brugada syndrome. (18678856)
2008
42
Brugada syndrome with complete right bundle branch block disclosed by a febrile illness. (18451577)
2008
43
Slow and discontinuous conduction conspire in Brugada syndrome: a right ventricular mapping and stimulation study. (19808433)
2008
44
A sodium channel pore mutation causing Brugada syndrome. (17198989)
2007
45
Brugada syndrome unmasked by accidental inhalation of gasoline vapors. (17897138)
2007
46
Brugada syndrome. (17038146)
2006
47
A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state. (16239976)
2005
48
Clinical and electrophysiological characteristics of Brugada syndrome caused by a missense mutation in the S5-pore site of SCN5A. (15828879)
2005
49
Brugada syndrome without mutation of the cardiac sodium channel gene in a Taiwanese patient. (11155778)
2000
50
A single Na(+) channel mutation causing both long-QT and Brugada syndromes. (10590249)
1999

Genetic Variations for Brugada Syndrome

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Expression for genes affiliated with Brugada Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brugada Syndrome

Search GEO for disease gene expression data for Brugada Syndrome.

Pathways for genes affiliated with Brugada Syndrome

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12EMD Millipore, 53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 49PharmGKB
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Compounds for genes affiliated with Brugada Syndrome

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11DrugBank, 44Novoseek, 49PharmGKB, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Brugada Syndrome according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1Magnesium Sulfate1110.4CACNB2, CACNA1C
2flecainide44 49 28 1113.4KCNH2, SCN5A
3ibutilide44 1111.4KCNH2, CACNA1C
4mexiletine44 1111.4KCNH2, SCN5A
5propafenone44 49 28 1113.4KCNH2, SCN5A
6nisoldipine44 28 1112.4CACNB2, CACNA1C
7nilvadipine44 1111.3CACNA1C, CACNB2
8Dronedarone1110.3KCNH2, CACNA1C, CACNB2
9nitrendipine44 49 28 1113.3CACNB2, CACNA1C, KCNH2
10isradipine44 28 1112.3CACNA1C, CACNB2
11nimodipine44 28 1112.2CACNB2, CACNA1C
12mibefradil44 28 1112.2CACNB2, CACNA1C
13cisapride44 28 1112.2KCNH2, SCN5A
14verapamil44 49 28 11 2414.1KCNH2, CACNA1C, CACNB2, SCN5A
15xe 991 dihydrochloride5910.1KCNE1, KCNH2, KCNE3, KCNE2
16e-4031 dihydrochloride5910.0KCNE2, KCNE3, KCNH2, KCNE1
17atenolol44 28 49 11 2414.0KCNH2, CACNA1C
18jnj 3035910.0KCNE2, KCNE3, KCNH2, KCNE1
19shk-dap225910.0KCNE2, KCNE3, KCNH2, KCNE1
20ica 1103815910.0KCNE2, KCNE3, KCNH2, KCNE1
21tetrodotoxin citrate5910.0SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
22qx 314 chloride5910.0SCN3B, SCN2B, SCN4B, SCN1B, SCN5A
23phrixotoxin 35910.0SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
24veratridine44 59 2811.9SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
25zonisamide44 1110.9SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
26tetrodotoxin44 59 2811.9SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
27felodipine44 28 1111.9CACNB2, CACNA1C
28potassium44 11 2411.4KCNJ8, KCNE1, KCNH2, KCNE3, KCNE2, SCN5A
29sodium44 2410.0HCN4, KCNE1, KCNH2, KCNE2, SCN5A, SCN1B

GO Terms for genes affiliated with Brugada Syndrome

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16Gene Ontology
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Cellular components related to Brugada Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycerol-3-phosphate dehydrogenase complexGO:00933110.2GPD1L, GPD1
2node of RanvierGO:03326810.2ANK3, SCN1B
3T-tubuleGO:03031510.1ANK3, SCN1B, SCN5A
4sarcolemmaGO:0423839.9KCNJ8, CACNB2, SCN5A, ANK3
5voltage-gated sodium channel complexGO:0015189.8SCN3B, SCN2B, SCN4B, SCN1B, SCN5A
6intercalated discGO:0147049.8SCN5A, SCN1B, SCN4B, ANK3, RANGRF
7voltage-gated potassium channel complexGO:0080769.6KCNJ8, KCNE1, KCNH2, KCNE2, KCNE1L
8Z discGO:0300189.6KCNE1, CACNA1C, SCN3B
9cell surfaceGO:0099869.5KCNE1, KCNH2, KCNE2, SCN5A, ANK3
10plasma membraneGO:0058868.4KCNJ8, KCNE1, KCNH2, KCNE2, CACNA1C, SCN5A

Biological processes related to Brugada Syndrome according to GeneCards/GeneDecks:

(show all 38)
idNameGO IDScoreTop Affiliating Genes
1SA node cell to atrial cardiac muscle cell communicationGO:08607010.5SCN3B, SCN5A
2glycerol-3-phosphate catabolic processGO:04616810.4GPD1, GPD1L
3positive regulation of protein localization to cell surfaceGO:200001010.4GPD1L, RANGRF
4regulation of ventricular cardiac muscle cell membrane depolarizationGO:06037310.4SCN5A, SCN3B, GPD1L
5membrane depolarizationGO:05189910.4SCN3B, SCN1B, SCN5A
6negative regulation of potassium ion transmembrane transportGO:190138010.4KCNH2, KCNE1L
7membrane depolarization involved in regulation of action potentialGO:08601010.4SCN3B, SCN5A, KCNH2
8response to pyrethroidGO:04668410.3SCN1B, SCN2B
9regulation of delayed rectifier potassium channel activityGO:190225910.3KCNE2, KCNE1
10regulation of heart rateGO:00202710.3SCN5A, GPD1L, RANGRF
11AV node cell to bundle of His cell communicationGO:08606710.3SCN5A, SCN4B
12regulation of atrial cardiac muscle cell membrane repolarizationGO:06037210.3KCNE1L, SCN5A
13regulation of potassium ion transportGO:04326610.3ANK3, KCNE3
14membrane repolarizationGO:08600910.3KCNE1, KCNE2
15regulation of membrane repolarizationGO:06030610.3KCNE1L, KCNE2, KCNH2
16membrane repolarization involved in regulation of cardiac muscle cell action potentialGO:08601310.2KCNE1, KCNH2
17positive regulation of potassium ion transmembrane transportGO:190138110.2KCNE1L, KCNH2, KCNE1
18regulation of atrial cardiac muscle cell membrane depolarizationGO:06037110.2SCN5A, SCN1B, SCN2B, SCN3B
19membrane repolarization involved in regulation of action potentialGO:08601110.2KCNE1, KCNH2, KCNE2
20regulation of sodium ion transmembrane transportGO:190230510.2RANGRF, SCN5A
21membrane depolarization involved in regulation of cardiac muscle cell action potentialGO:08601210.2SCN5A, SCN1B, SCN4B, SCN3B
22regulation of atrial cardiac muscle cell action potentialGO:08601410.1SCN3B, KCNE1L
23regulation of potassium ion transmembrane transportGO:190137910.1KCNE1, KCNH2, KCNE2, KCNE1L
24potassium ion exportGO:07143510.0KCNE1, KCNH2, KCNE2, KCNE1L
25axon guidanceGO:00741110.0CACNA1C, CACNB2, SCN1B, SCN3B, ANK3
26sodium ion transmembrane transportGO:03572510.0SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
27potassium ion importGO:0101079.9KCNE2, KCNJ8
28regulation of membrane potentialGO:0423919.9KCNH2, HCN4, RANGRF
29potassium ion transmembrane transportGO:0718059.9HCN4, KCNE1L, KCNE2, KCNH2, KCNE1
30positive regulation of sodium ion transportGO:0107659.9SCN5A, SCN1B, SCN4B, SCN3B, ANK3, GPD1L
31regulation of sodium ion transmembrane transporter activityGO:20006499.8RANGRF, GPD1L, SCN3B, SCN2B, SCN4B, SCN1B
32regulation of ventricular cardiac muscle cell action potentialGO:0860059.7GPD1L, SCN3B, SCN5A, KCNE1L, KCNE2, KCNH2
33synaptic transmissionGO:0072689.6KCNJ8, KCNH2, CACNA1C, CACNB2, SCN1B, SCN2B
34cardiac muscle contractionGO:0600489.6KCNH2, KCNE1L, SCN5A, SCN1B, SCN4B, SCN2B
35sodium ion transportGO:0068149.6SCN3B, SCN4B, SCN5A
36regulation of cardiac muscle cell action potential involved in contractionGO:0860029.6SCN5A, KCNE2, KCNE1, SCN1B, SCN4B, SCN2B
37regulation of ventricular cardiac muscle cell membrane repolarizationGO:0603079.5SCN4B, KCNE1, KCNH2, KCNE2, KCNE1L, SCN5A
38regulation of heart rate by cardiac conductionGO:0860919.2SCN3B, SCN2B, SCN4B, SCN1B, SCN5A, KCNE1L

Molecular functions related to Brugada Syndrome according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1high voltage-gated calcium channel activityGO:00833110.2CACNB2, CACNA1C
2glycerol-3-phosphate dehydrogenase [NAD+] activityGO:00436710.1GPD1, GPD1L
3voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:190228210.0KCNE2, KCNH2, KCNE1
4voltage-gated sodium channel activityGO:00524810.0SCN5A, SCN1B, SCN4B, SCN3B
5inward rectifier potassium channel activityGO:0052429.9KCNE2, KCNH2, KCNJ8
6voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potentialGO:0860069.8SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
7potassium channel regulator activityGO:0154599.8KCNE1, KCNE3, KCNE2, KCNE1L
8delayed rectifier potassium channel activityGO:0052519.8KCNE1, KCNH2, KCNE2
9voltage-gated potassium channel activityGO:0052499.8KCNE1, KCNH2, KCNE3, KCNE1L, HCN4
10voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:0860089.7KCNE1L, KCNE1
11sodium channel regulator activityGO:0170809.6SCN1B, SCN4B, SCN2B, SCN3B, GPD1L, RANGRF
12ion channel bindingGO:0443259.3RANGRF, KCNE2, KCNE1L, SCN5A, SCN4B, SCN3B

Products for genes affiliated with Brugada Syndrome

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Sources for Brugada Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet