SUDS
MCID: BRG001
MIFTS: 55

Brugada Syndrome (SUDS) malady

Summaries for Brugada Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 brugada syndrome 2 and brugada syndrome 3. 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 brain, heart and myeloid, 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:64 The Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram (ECG)... more...

Description from OMIM:47 612838, 611777, 601144, 613119, 611875 613123, 613120, 611876 more

GeneReviews summary for brugada

Aliases & Classifications for Brugada Syndrome

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM, 35MeSH
See all sources

Aliases & Descriptions:

brugada syndrome 8 19 43 20 22 21 10 45 61
sudden unexpected nocturnal death syndrome 19 43 21 61
right bundle branch block, st segment elevation, and sudden death syndrome 43
sudden unexplained death syndrome 21
suds 21


External Ids:

Disease Ontology8 DOID:0050451
MeSH35 D053840

Related Diseases for Brugada Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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 brugada syndrome 8

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1brugada syndrome 230.6GPD1L
2brugada syndrome 330.6CACNA1C
3sick sinus syndrome30.5HCN4, SCN5A
4sudden cardiac death multi-gene panels30.0KCNE1, KCNH2, SCN5A
5n syndrome10.8
6char syndrome10.6
7storm syndrome10.5
8syncope10.5
9brugada syndrome 110.5
10brugada syndrome 410.4
11wolff-parkinson-white syndrome10.3
12hypokalemia10.3
13short syndrome10.3
14brugada syndrome 510.3
15brugada syndrome 610.3
16brugada syndrome 710.3
17brugada syndrome 810.3
18young syndrome10.3
19scn5a-related brugada syndrome10.3
20catecholaminergic polymorphic ventricular tachycardia10.2
21autonomic dysfunction10.2
22cardiac conduction defect10.2
23adult syndrome10.1
24sleep disorder10.1
25bod syndrome10.1
26left ventricular noncompaction10.1
27diabetic ketoacidosis10.0
28fg syndrome10.0
29cellulitis10.0
30west syndrome10.0
31dyspepsia10.0
32pemphigus10.0
33conduct disorder10.0
34chronic myeloid leukemia10.0
35hypercalcemia10.0
36shigellosis10.0
37acute myocardial infarction10.0
38autonomic neuropathy10.0
39spinocerebellar ataxia10.0
40micro syndrome10.0
41postural orthostatic tachycardia syndrome10.0
42pemphigus vulgaris10.0
43ataxia10.0
44febrile seizures10.0
45serotonin syndrome10.0
46right bundle branch block10.0SCN5A
47sick sinus syndrome 210.0HCN4
48sudden infant death syndrome10.0KCNJ8, SCN5A, GPD1L
49familial atrial fibrillation10.0SCN5A, KCNE2
50hypokalemic periodic paralysis10.0KCNE3, CACNA1C

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



Diseases related to brugada syndrome

Clinical Features for Brugada Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

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

Drugs & Therapeutics for Brugada Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Brugada Syndrome:

33
Brain, Heart, Myeloid, T cells

Animal Models for Brugada Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Brugada Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1HCN4, SCN3B, SCN5A, CACNB2, CACNA1C, KCNH2

Publications for Brugada Syndrome

Sources:
51PubMed
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Articles related to Brugada Syndrome:

(show top 50)    (show all 608)
idTitleAuthorsYear
1
Risk of sudden death in asymptomatic Brugada syndrome: not as high as we thought and not as low as we wisheda8 (21029875)
but the cont
2
Gain-of-Function KCNH2 Mutations in Patients with Brugada Syndrome. (24400717)
2014
3
Clinical and electrocardiographic predictors of positive response to the intravenous sodium channel blockers in patients suspected of the Brugada syndrome. (21917337)
2013
4
The prognostic value of early repolarization (J wave) and ST-segment morphology after J wave in Brugada syndrome: multicenter study in Japan. (23274366)
2013
5
Fever and Brugada syndrome. (24035665)
2013
6
Drug Therapy For Preventing Ventricular Arrhythmia In Brugada syndrome: Do We Have The Answers Yet? (24130424)
2013
7
Fever and brugada syndrome: a dangerous combination. (24257154)
2013
8
FGF12 is a candidate Brugada syndrome locus. (24096171)
2013
9
A case of Brugada syndrome showing augmentation of electrocardiogram phenotype by complete right bundle branch block. (23851512)
2013
10
Biomarker discovery by plasma proteomics in familial Brugada Syndrome. (23276942)
2013
11
Syncope in Brugada syndrome type 3: an electrocardiographic lesson. (23380116)
2013
12
Brugada syndrome in the elderly. (23209262)
2013
13
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient. (23085483)
2013
14
Haemochromatosis, sinus node dysfunction and Brugada syndrome--a mAcnage a trois of findings in one and the same patient: coincidence or causality? (22641986)
2012
15
Atrial flutter in normal heart could be first manifestation of Brugada syndrome. (22455095)
2012
16
Familial Brugada syndrome unmasked by carbon monoxide intoxication. (21899901)
2012
17
Genetic and clinical aspects of Brugada syndrome: an update. (22397033)
2012
18
Does a Brugada pattern ECG precipitated by excessive-dose flecainide provide a diagnosis of a Brugada syndrome patient and/or contraindicate its use? A case study. (21846883)
2011
19
Regional substrate ablation abolishes Brugada syndrome. (21457386)
2011
20
Brugada syndrome unmasked by pneumonia. (20965583)
2011
21
Automatic continuous ECG monitoring system for over-drug detection in Brugada Syndrome. (22256179)
2011
22
Role of the R1135H KCNH2 mutation in Brugada syndrome. (19174314)
2010
23
Brugada syndrome: Controversies in Risk stratification and Management. (20930958)
2010
24
The Brugada ECG pattern: a marker of channelopathy, structural heart disease, or neither? Toward a unifying mechanism of the Brugada syndrome. (20551422)
2010
25
Efficacy of low-dose bepridil for prevention of ventricular fibrillation in patients with Brugada syndrome with and without SCN5A mutation. (20625312)
2010
26
Local depolarization abnormalities are the dominant pathophysiologic mechanism for type 1 electrocardiogram in brugada syndrome a study of electrocardiograms, vectorcardiograms, and body surface potential maps during ajmaline provocation. (20170818)
2010
27
The acquired Brugada syndrome and the paradox of choice. (19716090)
2009
28
Brugada syndrome--a case and a review of the literature. (20377103)
2009
29
Brugada syndrome: insights of ST elevation, arrhythmogenicity, and risk stratification from experimental observations. (19880072)
2009
30
Brugada syndrome or Brugada electrocardiogram? (19389571)
2009
31
Electrical storm in Brugada syndrome successfully treated with orciprenaline; effect of low-dose quinidine on the electrocardiogram. (19346290)
2009
32
Search of phenotype related candidate genes using gene ontology-based semantic similarity and protein interaction information: application to Brugada syndrome. (19963939)
2009
33
Differences in 12-lead electrocardiogram between symptomatic and asymptomatic Brugada syndrome patients. (18631270)
2008
34
Sodium channel blockers enhance the temporal QT interval variability in the right precordial leads in Brugada syndrome. (18234009)
2008
35
Brugada syndrome: recent advances and controversies. (18715534)
2008
36
Update on genetic analysis in Brugada syndrome. (18929337)
2008
37
Genetics of congenital long QT syndrome and Brugada syndrome. (19804318)
2008
38
Prevalence of supraventricular tachyarrhythmias in a cohort of 115 patients with Brugada syndrome. (18713327)
2008
39
Longer repolarization in the epicardium at the right ventricular outflow tract causes type 1 electrocardiogram in patients with Brugada syndrome. (18355652)
2008
40
Brugada syndrome manifested by the typical electrocardiographic pattern both in the right precordial and the high lateral leads. (18379659)
2008
41
Long QT and Brugada syndrome gene mutations in New Zealand. (17905336)
2007
42
Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617. (17081365)
2006
43
Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome. (15808832)
2005
44
Asymptomatic Brugada syndrome associated with postural orthostatic tachycardia syndrome: Does autonomic disorder increase propensity for future arrhythmic events? (15078411)
2004
45
Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome. (15057319)
2004
46
Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. (15338453)
2004
47
PCR-based site-directed mutagenesis and recombinant expression plasmid construction of a SCN5A mutation (K317N) identified in a Chinese family with Brugada syndrome]. (14625171)
2003
48
Brugada syndrome: the syndrome of right bundle branch block, ST segment elevation in V1 to V3 and sudden death. (17006566)
2001
49
A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. (10940383)
2000
50
Transmural dispersion of repolarization and arrhythmogenicity: the Brugada syndrome versus the long QT syndrome. (10688320)
1999

Genetic Variations for Brugada Syndrome

Expression for genes affiliated with Brugada Syndrome

Sources:
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

Sources:
12EMD Millipore, 54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 50PharmGKB
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Compounds for genes affiliated with Brugada Syndrome

Sources:
11DrugBank, 45Novoseek, 50PharmGKB, 29IUPHAR, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Brugada Syndrome according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1Magnesium Sulfate1110.4CACNB2, CACNA1C
2flecainide45 50 29 1113.4KCNH2, SCN5A
3ibutilide45 1111.4KCNH2, CACNA1C
4mexiletine45 1111.4KCNH2, SCN5A
5propafenone45 50 29 1113.4KCNH2, SCN5A
6nisoldipine45 29 1112.4CACNB2, CACNA1C
7nilvadipine45 1111.3CACNA1C, CACNB2
8Dronedarone1110.3KCNH2, CACNA1C, CACNB2
9nitrendipine45 50 29 1113.3CACNB2, CACNA1C, KCNH2
10isradipine45 29 1112.3CACNA1C, CACNB2
11nimodipine45 29 1112.2CACNB2, CACNA1C
12mibefradil45 29 1112.2CACNB2, CACNA1C
13cisapride45 29 1112.2KCNH2, SCN5A
14verapamil45 50 29 11 2414.1KCNH2, CACNA1C, CACNB2, SCN5A
15xe 991 dihydrochloride6010.1KCNE1, KCNH2, KCNE3, KCNE2
16e-4031 dihydrochloride6010.0KCNE2, KCNE3, KCNH2, KCNE1
17atenolol45 29 50 11 2414.0KCNH2, CACNA1C
18jnj 3036010.0KCNE2, KCNE3, KCNH2, KCNE1
19shk-dap226010.0KCNE2, KCNE3, KCNH2, KCNE1
20ica 1103816010.0KCNE2, KCNE3, KCNH2, KCNE1
21tetrodotoxin citrate6010.0SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
22qx 314 chloride6010.0SCN3B, SCN2B, SCN4B, SCN1B, SCN5A
23phrixotoxin 36010.0SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
24veratridine45 60 2911.9SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
25zonisamide45 1110.9SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
26tetrodotoxin45 60 2911.9SCN5A, SCN1B, SCN4B, SCN2B, SCN3B
27felodipine45 29 1111.9CACNB2, CACNA1C
28potassium45 11 2411.4KCNJ8, KCNE1, KCNH2, KCNE3, KCNE2, SCN5A
29sodium45 2410.0HCN4, KCNE1, KCNH2, KCNE2, SCN5A, SCN1B

GO Terms for genes affiliated with Brugada Syndrome

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet