MCID: BRG001
MIFTS: 61

Brugada Syndrome

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Brugada Syndrome

MalaCards integrated aliases for Brugada Syndrome:

Name: Brugada Syndrome 12 72 23 49 24 55 36 28 51 41 14 69
Sudden Unexpected Nocturnal Death Syndrome 23 49 24 69
Sudden Unexplained Nocturnal Death Syndrome 12 55 69
Pokkuri Death Syndrome 12 24 55
Bangungut 12 24 55
Sunds 12 24 55
Idiopathic Ventricular Fibrillation, Brugada Type 24 55
Dream Disease 12 55
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 49
Brugada Type Idiopathic Ventricular Fibrillation 12
Sudden Unexplained Death Syndrome 24
Sudden Unexplained Death 28
Suds 24

Characteristics:

Orphanet epidemiological data:

55
brugada syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

GeneReviews:

23
Penetrance Among individuals with an scn5a pathogenic variant:...

Classifications:



External Ids:

Disease Ontology 12 DOID:0050451
ICD10 32 I49.8
MeSH 41 D053840
NCIt 46 C71059
SNOMED-CT 64 418818005
Orphanet 55 ORPHA130
MESH via Orphanet 42 D053840
UMLS via Orphanet 70 C1142166 C1955837
ICD10 via Orphanet 33 I49.8
KEGG 36 H00728

Summaries for Brugada Syndrome

NIH Rare Diseases : 49 Brugada syndromeis a heart condition that causes a disruption of the normal rhythm in the heart's lower chambers (ventricular arrhythmia). Signs and symptoms usually develop in adulthood but the diagnosis may be made at any age. Symptoms and complications often occur during rest or sleep, and may include fainting, seizures, difficulty breathing, or sudden death. Brugada syndrome may be caused by a mutation in any of at least 16 genes (most commonly the SCN5A gene) and is inherited in an autosomal dominant manner. An acquired (nongenetic) form has been associated with certain drugs; abnormally high blood levels of calcium or potassium; or very low levels of potassium. In some cases, the cause of Brugada syndrome is unknown. Treatment may include use of an implantable cardioverter defibrillator (ICD). Last updated: 3/16/2016

MalaCards based summary : Brugada Syndrome, also known as sudden unexpected nocturnal death syndrome, is related to brugada syndrome 2 and brugada syndrome 5. An important gene associated with Brugada Syndrome is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are MAPK signaling pathway and Calcium signaling pathway. The drugs Procainamide and Ajmaline have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and skin, and related phenotypes are cardiovascular system and muscle

Genetics Home Reference : 24 Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is 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.

Disease Ontology : 12 A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.

Wikipedia : 72 Brugada syndrome (BrS) is a genetic condition that results in abnormal electrical activity within the... more...

GeneReviews: NBK1517

Related Diseases for Brugada Syndrome

Diseases in the Brugada Syndrome family:

Brugada Syndrome 1 Brugada Syndrome 2
Brugada Syndrome 3 Brugada Syndrome 4
Brugada Syndrome 5 Brugada Syndrome 6
Brugada Syndrome 7 Brugada Syndrome 8
Brugada Syndrome 9

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

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 2 34.6 GPD1L SCN5A
2 brugada syndrome 5 34.5 SCN1B SCN5A
3 sick sinus syndrome 30.9 HCN4 RANGRF SCN5A
4 cardiac conduction defect 30.8 KCNH2 SCN5A
5 atrial fibrillation 30.8 ABCC9 HCN4 KCNH2 SCN1B SCN2B SCN3B
6 short qt syndrome 30.6 CACNA1C CACNA2D1 CACNB2 KCNH2 SCN3B SCN5A
7 catecholaminergic polymorphic ventricular tachycardia 30.5 CALM2 KCNH2 SCN5A
8 right bundle branch block 30.5 CACNA1C CACNB2 GPD1L HCN4 KCND3 SCN1B
9 sudden infant death syndrome 30.3 GPD1L KCNH2 SCN2B SCN3B SCN5A
10 left ventricular noncompaction 30.3 HCN4 PKP2 SCN5A
11 long qt syndrome 30.1 CACNA1C CALM2 HCN4 KCND3 KCNE3 KCNE5
12 long qt syndrome 3 29.8 KCNH2 SCN5A
13 brugada syndrome 1 12.4
14 brugada syndrome 3 12.3
15 brugada syndrome 4 12.3
16 brugada syndrome 6 12.3
17 brugada syndrome 8 12.3
18 brugada syndrome 9 12.2
19 brugada syndrome 7 12.2
20 ventricular fibrillation, paroxysmal familial, 1 11.3
21 sudden arrhythmia death syndrome 10.8
22 familial long qt syndrome 10.7 CACNA1C KCNH2 SCN5A
23 familial sick sinus syndrome 10.6 HCN4 SCN5A
24 jervell and lange-nielsen syndrome 1 10.6 CACNA1C KCNH2 SCN5A
25 long qt syndrome 6 10.6 CACNA1C KCNH2 SCN5A
26 cardiac conduction disease with or without dilated cardiomyopathy 10.6 KCNH2 SCN5A
27 timothy syndrome 10.6 CACNA1C CACNA2D1 CACNB2 KCNH2
28 heart conduction disease 10.6 HCN4 KCND3 KCNH2 SCN5A
29 intrinsic cardiomyopathy 10.6 KCNH2 PKP2 SCN5A
30 familial short qt syndrome 10.6 CACNA2D1 KCNH2
31 long qt syndrome 13 10.6 KCNH2 SCN5A
32 hypokalemic periodic paralysis, type 1 10.6 CACNA1C KCNE3 KCNE5
33 long qt syndrome 12 10.6 KCNH2 SCN5A
34 atrial standstill 1 10.6 PKP2 SCN1B SCN5A
35 third-degree atrioventricular block 10.5 HCN4 SCN5A
36 familial progressive cardiac conduction defect 10.5 SCN1B SCN5A TRPM4
37 progressive familial heart block 10.5 SCN1B SCN5A TRPM4
38 atrioventricular block 10.4 HCN4 KCNH2 SCN5A TRPM4
39 long qt syndrome 9 10.4 HCN4 SCN5A
40 progressive familial heart block, type ia 10.3
41 progressive familial heart block, type ib 10.2
42 syncope 10.2
43 long qt syndrome 1 10.2 CACNA1C CALM2 HCN4 KCNE3 KCNH2 SCN5A
44 familial atrial fibrillation 10.1 ABCC9 KCNE3 KCNE5 KCNH2 SCN1B SCN2B
45 early repolarization associated with ventricular fibrillation 10.1
46 heart disease 10.1
47 wolff-parkinson-white syndrome 10.1
48 cardiac arrest 10.1
49 hypokalemia 10.0
50 arrhythmogenic right ventricular cardiomyopathy 10.0

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



Diseases related to Brugada Syndrome

Symptoms & Phenotypes for Brugada Syndrome

MGI Mouse Phenotypes related to Brugada Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.77 ABCC9 CACNA1C CACNA2D1 CACNB2 HCN4 KCND3
2 muscle MP:0005369 9.17 ABCC9 CACNA1C CACNA2D1 HCN4 KCNH2 PKP2

Drugs & Therapeutics for Brugada Syndrome

Drugs for Brugada Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Procainamide Approved Phase 4 51-06-9 4913
2
Ajmaline Approved, Investigational, Nutraceutical Phase 4,Phase 2 4360-12-7 441080
3 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1
4 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1
5 Lorajmine Phase 4,Phase 2
6 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Phase 1
7
4-Aminopyridine Approved Phase 3 504-24-5 1727
8
Quinidine Approved, Investigational Phase 2, Phase 3 56-54-2 441074
9 3,4-diaminopyridine Phase 3
10 Potassium Channel Blockers Phase 3
11 Adrenergic Agents Phase 2, Phase 3
12 Adrenergic alpha-Antagonists Phase 2, Phase 3
13 Adrenergic Antagonists Phase 2, Phase 3
14 Anti-Infective Agents Phase 2, Phase 3
15 Antimalarials Phase 2, Phase 3
16 Antiparasitic Agents Phase 2, Phase 3
17 Antiprotozoal Agents Phase 2, Phase 3
18 Cholinergic Agents Phase 2, Phase 3
19 Cholinergic Antagonists Phase 2, Phase 3
20 Cytochrome P-450 CYP2D6 Inhibitors Phase 2, Phase 3
21 Cytochrome P-450 Enzyme Inhibitors Phase 2, Phase 3
22 Hydroquinidine Phase 2, Phase 3
23 Muscarinic Antagonists Phase 2, Phase 3
24 Neurotransmitter Agents Phase 2, Phase 3
25 Quinidine gluconate Phase 2, Phase 3
26 Autonomic Agents Phase 3
27 Peripheral Nervous System Agents Phase 3
28 Parasympatholytics Phase 3
29
Epinephrine Approved, Vet_approved 51-43-4 5816
30
Lidocaine Approved, Vet_approved 137-58-6 3676
31 Racepinephrine Approved 329-65-7
32 Antibodies
33 Antibodies, Antinuclear
34 Immunoglobulins
35 Anesthetics
36 Adrenergic Agonists
37 Adrenergic alpha-Agonists
38 Adrenergic beta-Agonists
39 Anesthetics, Local
40 Anti-Asthmatic Agents
41 Bronchodilator Agents
42 Central Nervous System Depressants
43 Epinephryl borate
44 Mydriatics
45 Respiratory System Agents
46 Vasoconstrictor Agents

Interventional clinical trials:

(show all 26)

# Name Status NCT ID Phase Drugs
1 Ajmaline Utilization in the Diagnosis and Treatment of Cardiac Arrhythmias Completed NCT00702117 Phase 4 flecainide;ajmaline;procainamide
2 Syncope: Pacing or Recording in the Later Years Active, not recruiting NCT01423994 Phase 4
3 DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome Unknown status NCT00701077 Phase 3 3,4-Di-amino-Pyridine;placebo
4 Empiric Quinidine for Asymptomatic Brugada Syndrome Recruiting NCT00789165 Phase 2, Phase 3 quinidine;no therapy
5 Efficacy of Transcatheter Ablation Using Anatomic Approach of Ganglionated Plexi Located in the Right Atrium to Prevent Neuromediated Cardioinhibitory Syncope Recruiting NCT01814228 Phase 3
6 Registry of Unexplained Cardiac Arrest Recruiting NCT00292032 Phase 3
7 Hydroquinidine Versus Placebo in Patients With Brugada Syndrome Terminated NCT00927732 Phase 3 hydroquinidine;placebo (sugar)
8 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Completed NCT02302274 Phase 1, Phase 2 flecainide iv
9 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum Completed NCT01609738 Phase 1, Phase 2
10 The Response To Ajmaline Provocation in Healthy Subjects Recruiting NCT02933437 Phase 2 Ajmaline
11 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
12 Systemic Lupus Erythematous and Heart Conduction Disorders Unknown status NCT02162992
13 AnalyST & Brugada Syndrome - Feasibility Study Completed NCT02052765
14 Epicardial Ablation in Brugada Syndrome Completed NCT02641431 Ajmaline
15 Ripple Mapping for Epicardial Mapping of Brugada Syndrome Recruiting NCT03435393
16 Ablation in Brugada Syndrome for the Prevention of VF Recruiting NCT02704416
17 Epicardial Ablation in Brugada Syndrome. An Extension Study of 200 BrS.Patients Recruiting NCT03106701
18 Epicardial Ablation in Brugada Syndrome to Prevent Sudden Death Recruiting NCT03294278
19 Evaluation of Subcutaneous Implantable Cardiac Defibrillator in Brugada Patients Recruiting NCT02344277
20 Worm Study: Modifier Genes in Sudden Cardiac Death Recruiting NCT02014961
21 Sudden Unexplained Death in Childhood (SUDC) Registry Recruiting NCT03109197
22 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Recruiting NCT03182777
23 Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms Recruiting NCT02881671
24 Investigating Hereditary Cardiac Disease by Reprogramming Skin Cells to Heart Muscle Active, not recruiting NCT01865981
25 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450
26 Cohort Description of Younger With AV-block Not yet recruiting NCT03024047

Search NIH Clinical Center for Brugada Syndrome

Cochrane evidence based reviews: brugada syndrome

Genetic Tests for Brugada Syndrome

Genetic tests related to Brugada Syndrome:

# Genetic test Affiliating Genes
1 Brugada Syndrome 28
2 Sudden Unexplained Death 28

Anatomical Context for Brugada Syndrome

MalaCards organs/tissues related to Brugada Syndrome:

38
Heart, Testes, Skin, Smooth Muscle, Myeloid, Brain, Eye

Publications for Brugada Syndrome

Articles related to Brugada Syndrome:

(show top 50) (show all 779)
# Title Authors Year
1
Performance of electrophysiologic study in an asymptomatic patient with type 2 intermittent Brugada syndrome: To do or not to do. ( 29387326 )
2018
2
Intramural clefts and structural discontinuities in Brugada syndrome: the missing gap? ( 29390049 )
2018
3
Tramadol use in a patient with Brugada syndrome and morphine allergy: a case report. ( 29391825 )
2018
4
Pediatric Brugada Syndrome: Avoiding the Inappropriate ICD. ( 29325639 )
2018
5
Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population. ( 29306897 )
2018
6
Right Ventricular Outflow Tract Electroanatomical Abnormalities Predict Ventricular Fibrillation Inducibility in Brugada Syndrome. ( 29437762 )
2018
7
Feasibility of drugs in Brugada syndrome. ( 29360969 )
2018
8
Feasibility of drugs in Brugada syndrome-authors' reply. ( 29351608 )
2018
9
Profile of patients with Brugada syndrome presenting with their first documented arrhythmic event: Data from the Survey on Arrhythmic Events in BRUgada Syndrome. ( 29325976 )
2018
10
Concealed abnormal atrial phenotype in patients with Brugada syndrome and no history of atrial fibrillation. ( 29306474 )
2018
11
Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Varianta88- Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and Phenotyping. ( 28781330 )
2017
12
Brugada syndrome or not? That is the question. ( 29301723 )
2017
13
Brugada syndrome revealed by intestinal shigellosis in a patient from Benin at the University Hospital of Saint-Etienne. ( 28944419 )
2017
14
The Brugada Syndrome Susceptibility Gene HEY2 Modulates Cardiac Transmural Ion Channel Patterning and Electrical Heterogeneity. ( 28637782 )
2017
15
Ventricular Arrhythmias Ablation in Brugada Syndrome. Current and Future Directions. ( 28734879 )
2017
16
Revisiting the sensitivity of sodium channel blocker testing in Brugada syndrome using obligate transmittance. ( 28709698 )
2017
17
A Clinical Score Model to Predict Lethal Events in Young Patients (a8o19 Years) With the Brugada Syndrome. ( 28728742 )
2017
18
When High Throughput Meets Mechanistic Studies: A State-of-the-Art Approach in Brugada Syndrome. ( 28819034 )
2017
19
Mechanisms Underlying Epicardial Radiofrequency Ablation to Suppress Arrhythmogenesis in Experimental Models of Brugada Syndrome. ( 28948234 )
2017
20
Recording of isolated very delayed potentials on the right ventricular epicardium in a patient with Brugada syndrome. ( 28748141 )
2017
21
Anesthetic and Perioperative Management of Patients With Brugada Syndrome. ( 28739038 )
2017
22
Commentary: Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome. ( 29311983 )
2017
23
Impact of premature activation of the right ventricle with programmed stimulation in Brugada syndrome. ( 28884873 )
2017
24
Brugada Syndrome Induced by an Interscalene Block: A Case Report. ( 29280897 )
2017
25
Role of syncope in predicting adverse outcomes in patients with suspected Brugada syndrome undergoing standardized flecainide testing. ( 29309564 )
2017
26
Identification of electrocardiographic risk markers for the initial and recurrent episodes of ventricular fibrillation in patients with Brugada syndrome. ( 28940628 )
2017
27
A meta-analysis on the prognostic significance of inferolateral early repolarization pattern in Brugada syndrome. ( 28087596 )
2017
28
Brugada syndrome-Malignant phenotype associated with acute cardiac inflammation? ( 28840105 )
2017
29
Early repolarization syndrome and Brugada syndrome: Similar or different? ( 27940004 )
2017
30
Value of the sodium-channel blocker challenge in Brugada syndrome. ( 28784436 )
2017
31
Masquerading bundle branch block obscuring the diagnosis of Brugada syndrome: an electrocardiographic and vectorcardiographic study. ( 28781860 )
2017
32
Response by Veerman et al to Letter Regarding Article, "The Brugada Syndrome Susceptibility Gene HEY2 Modulates Cardiac Transmural Ion Channel Patterning and Electrical Heterogeneity". ( 28819042 )
2017
33
Brugada syndrome in children - Stepping into unchartered territory. ( 28928611 )
2017
34
Uneventful prolonged propofol infusion in a patient with Brugada syndrome. ( 28072945 )
2017
35
Brugada Syndrome and Exercise Practice: Current Knowledge, Shortcomings and Open Questions. ( 29361645 )
2017
36
Normal interventricular differences in tissue architecture underlie right ventricular susceptibility to conduction abnormalities in a mouse model of Brugada syndrome. ( 29267949 )
2017
37
Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism. ( 28401855 )
2017
38
Outcomes of Brugada Syndrome Patients with Coronary Artery Vasospasm. ( 28090040 )
2017
39
Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry. ( 28341781 )
2017
40
Epicardial ablation utilizing remote magnetic navigation in a patient with Brugada syndrome and inferior early repolarization. ( 28842979 )
2017
41
Letter by El-Battrawy et al Regarding Article, "The Brugada Syndrome Susceptibility Gene HEY2 Modulates Cardiac Transmural Ion Channel Patterning and Electrical Heterogeneity". ( 28819041 )
2017
42
Role of Electrocardiographic Tpeak-Tend for the Prediction of Ventricular Arrhythmic Events in the Brugada Syndrome. ( 28823479 )
2017
43
Case report: an unusual case of Brugada syndrome combined with a ventricular septal defect: A case report. ( 29381953 )
2017
44
Sudden Cardiac Arrest While Eating a Hot Dog: A Rare Presentation of Brugada Syndrome in a Child. ( 28877999 )
2017
45
A novel method to enhance phenotype, epicardial functional substrates, and ventricular tachyarrhythmias in brugada syndrome. ( 28065832 )
2017
46
Exercise stress test reveals ineligibility for subcutaneous implantable cardioverter defibrillator in patients with Brugada syndrome. ( 28800177 )
2017
47
Atrial fibrillation associated with Wolff-Parkinson-White syndrome in a patient with concomitant Brugada syndrome. ( 28491758 )
2017
48
Local activation delay exacerbates local J-ST elevation in the epicardium: Electrophysiological substrate in Brugada syndrome. ( 29296584 )
2017
49
Extracorporeal Life Support as a Rescue Measure for Managing Life-Threatening Arrythmia and Brugada Syndrome. ( 29302124 )
2017
50
Long-QT Syndrome, Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia: A Tale of 3 Diseases. ( 27282903 )
2016

Variations for Brugada Syndrome

ClinVar genetic disease variations for Brugada Syndrome:

6 (show top 50) (show all 83)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.4931G> A (p.Arg1644His) single nucleotide variant Pathogenic rs28937316 GRCh37 Chromosome 3, 38592932: 38592932
2 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic rs137854601 GRCh37 Chromosome 3, 38592513: 38592513
3 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh37 Chromosome 3, 38592734: 38592734
4 SCN5A NM_198056.2(SCN5A): c.4783G> A (p.Asp1595Asn) single nucleotide variant Pathogenic/Likely pathogenic rs137854607 GRCh37 Chromosome 3, 38595800: 38595800
5 SCN5A NM_198056.2(SCN5A): c.1100G> A (p.Arg367His) single nucleotide variant Pathogenic rs28937318 GRCh37 Chromosome 3, 38648200: 38648200
6 SCN5A NM_198056.2(SCN5A): c.2204C> T (p.Ala735Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854611 GRCh37 Chromosome 3, 38639278: 38639278
7 SCN5A NM_000335.4(SCN5A): c.3575G> A (p.Arg1192Gln) single nucleotide variant risk factor rs41261344 GRCh37 Chromosome 3, 38616876: 38616876
8 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
9 SCN5A NM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg) single nucleotide variant Pathogenic rs137854612 GRCh37 Chromosome 3, 38601661: 38601661
10 SCN5A NM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His) single nucleotide variant Pathogenic rs137854615 GRCh37 Chromosome 3, 38592480: 38592480
11 SCN5A NM_000335.4(SCN5A): c.3781G> A (p.Gly1261Ser) single nucleotide variant Pathogenic rs137854616 GRCh37 Chromosome 3, 38607956: 38607956
12 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh37 Chromosome 3, 38607917: 38607917
13 KCNH2 NM_000238.3(KCNH2): c.2350C> T (p.Arg784Trp) single nucleotide variant Likely pathogenic,risk factor rs12720441 GRCh37 Chromosome 7, 150647304: 150647304
14 CACNA1C NM_000719.6(CACNA1C): c.116C> T (p.Ala39Val) single nucleotide variant Pathogenic rs121912776 GRCh37 Chromosome 12, 2224456: 2224456
15 SCN5A NM_198056.2(SCN5A): c.4859C> T (p.Thr1620Met) single nucleotide variant Pathogenic/Likely pathogenic rs199473282 GRCh37 Chromosome 3, 38593004: 38593004
16 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
17 SCN5A NM_198056.2(SCN5A): c.1066G> A (p.Asp356Asn) single nucleotide variant Likely pathogenic rs199473565 GRCh37 Chromosome 3, 38648234: 38648234
18 SCN5A NM_198056.2(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 GRCh37 Chromosome 3, 38648201: 38648201
19 SCN5A NM_198056.2(SCN5A): c.1127G> A (p.Arg376His) single nucleotide variant Pathogenic rs199473101 GRCh37 Chromosome 3, 38648173: 38648173
20 SCN5A NM_000335.4(SCN5A): c.1231G> A (p.Val411Met) single nucleotide variant Pathogenic rs72549410 GRCh37 Chromosome 3, 38647549: 38647549
21 SCN5A NM_198056.2(SCN5A): c.2254G> A (p.Gly752Arg) single nucleotide variant Pathogenic/Likely pathogenic rs199473153 GRCh37 Chromosome 3, 38639228: 38639228
22 SCN5A NM_198056.2(SCN5A): c.2440C> T (p.Arg814Trp) single nucleotide variant Pathogenic/Likely pathogenic rs199473161 GRCh37 Chromosome 3, 38627529: 38627529
23 SCN5A NM_198056.2(SCN5A): c.2632C> T (p.Arg878Cys) single nucleotide variant Pathogenic rs199473168 GRCh37 Chromosome 3, 38627337: 38627337
24 SCN5A NM_198056.2(SCN5A): c.2893C> T (p.Arg965Cys) single nucleotide variant Likely pathogenic rs199473180 GRCh37 Chromosome 3, 38622757: 38622757
25 SCN5A NM_198056.2(SCN5A): c.310C> T (p.Arg104Trp) single nucleotide variant Likely pathogenic rs199473055 GRCh37 Chromosome 3, 38671884: 38671884
26 SCN5A NM_198056.2(SCN5A): c.311G> A (p.Arg104Gln) single nucleotide variant Pathogenic rs199473554 GRCh37 Chromosome 3, 38671883: 38671883
27 SCN5A NM_198056.2(SCN5A): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs199473556 GRCh37 Chromosome 3, 38671833: 38671833
28 SCN5A NM_198056.2(SCN5A): c.362G> A (p.Arg121Gln) single nucleotide variant Pathogenic rs199473058 GRCh37 Chromosome 3, 38671832: 38671832
29 SCN5A NM_198056.2(SCN5A): c.3956G> T (p.Gly1319Val) single nucleotide variant Likely pathogenic rs199473220 GRCh37 Chromosome 3, 38603913: 38603913
30 SCN5A NM_198056.2(SCN5A): c.3995C> T (p.Pro1332Leu) single nucleotide variant Pathogenic rs199473225 GRCh37 Chromosome 3, 38601888: 38601888
31 SCN5A NM_198056.2(SCN5A): c.4217G> A (p.Gly1406Glu) single nucleotide variant Pathogenic rs199473609 GRCh37 Chromosome 3, 38601666: 38601666
32 SCN5A NM_198056.2(SCN5A): c.4321G> C (p.Glu1441Gln) single nucleotide variant Likely pathogenic rs199473249 GRCh37 Chromosome 3, 38598048: 38598048
33 SCN5A NM_198056.2(SCN5A): c.4346A> G (p.Tyr1449Cys) single nucleotide variant Likely pathogenic rs199473613 GRCh37 Chromosome 3, 38598023: 38598023
34 SCN5A NM_198056.2(SCN5A): c.4501C> G (p.Leu1501Val) single nucleotide variant Likely pathogenic rs199473266 GRCh37 Chromosome 3, 38597188: 38597188
35 SCN5A NM_198056.2(SCN5A): c.481G> A (p.Glu161Lys) single nucleotide variant Pathogenic rs199473062 GRCh37 Chromosome 3, 38663892: 38663892
36 SCN5A NM_198056.2(SCN5A): c.4886G> A (p.Arg1629Gln) single nucleotide variant Pathogenic rs199473623 GRCh37 Chromosome 3, 38592977: 38592977
37 SCN5A NM_198056.2(SCN5A): c.5141A> G (p.Asp1714Gly) single nucleotide variant Likely pathogenic rs199473628 GRCh37 Chromosome 3, 38592722: 38592722
38 SCN5A NM_198056.2(SCN5A): c.5227G> A (p.Gly1743Arg) single nucleotide variant Pathogenic rs199473305 GRCh37 Chromosome 3, 38592636: 38592636
39 SCN5A NM_198056.2(SCN5A): c.5302A> G (p.Ile1768Val) single nucleotide variant Pathogenic rs199473311 GRCh37 Chromosome 3, 38592561: 38592561
40 SCN5A NM_198056.2(SCN5A): c.844C> T (p.Arg282Cys) single nucleotide variant Likely pathogenic rs199473082 GRCh37 Chromosome 3, 38651315: 38651315
41 SCN5A NM_198056.2(SCN5A): c.845G> A (p.Arg282His) single nucleotide variant Pathogenic rs199473083 GRCh37 Chromosome 3, 38651314: 38651314
42 SCN5A NM_198056.2(SCN5A): c.3963+1G> A single nucleotide variant Likely pathogenic rs483353016 GRCh37 Chromosome 3, 38603905: 38603905
43 SCN5A NM_000335.4(SCN5A): c.612-2A> G single nucleotide variant Likely pathogenic rs370438420 GRCh37 Chromosome 3, 38655327: 38655327
44 SCN5A NM_198056.2(SCN5A): c.1936delC (p.Gln646Argfs) deletion Pathogenic rs727505158 GRCh37 Chromosome 3, 38640496: 38640496
45 SCN5A NM_198056.2(SCN5A): c.255delC (p.Phe86Serfs) deletion Likely pathogenic rs727503411 GRCh38 Chromosome 3, 38633053: 38633053
46 SCN5A NM_198056.2(SCN5A): c.3995delC (p.Pro1332Argfs) deletion Pathogenic rs727504801 GRCh38 Chromosome 3, 38560397: 38560397
47 SCN5A NM_198056.2(SCN5A): c.1338+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs786204839 GRCh37 Chromosome 3, 38647440: 38647440
48 SCN5A NM_198056.2(SCN5A): c.1652C> T (p.Ala551Val) single nucleotide variant Likely pathogenic rs201641342 GRCh37 Chromosome 3, 38645441: 38645441
49 SCN5A NM_198056.2(SCN5A): c.5464_5467delTCTG (p.Glu1823Hisfs) deletion Pathogenic/Likely pathogenic rs794728924 GRCh37 Chromosome 3, 38592396: 38592399
50 SCN5A NM_198056.2(SCN5A): c.4519_4527delCAGAAGCCC (p.Gln1507_Pro1509del) deletion Pathogenic/Likely pathogenic rs397514251 GRCh37 Chromosome 3, 38597162: 38597170

Expression for Brugada Syndrome

Search GEO for disease gene expression data for Brugada Syndrome.

Pathways for Brugada Syndrome

Pathways related to Brugada Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Calcium signaling pathway hsa04020
3 Cardiac muscle contraction hsa04260
4 Vascular smooth muscle contraction hsa04270
5 Hypertrophic cardiomyopathy (HCM) hsa05410
6 Arrhythmogenic right ventricular cardiomyopathy (ARVC) hsa05412
7 Dilated cardiomyopathy (DCM) hsa05414

Pathways related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 CACNA1C CACNA2D1 CACNB2 CALM2 SCN10A SCN1B
2
Show member pathways
13.36 CACNA1C CACNB2 CALM2 PKP2 SCN10A SCN1B
3
Show member pathways
12.88 ABCC9 CACNA2D1 CACNB2 CALM2 HCN4 KCND3
4
Show member pathways
12.84 CACNA1C CACNA2D1 CACNB2 CALM2 SCN10A SCN1B
5
Show member pathways
12.76 ABCC9 CACNA1C CACNA2D1 CACNB2 CALM2 KCND3
6
Show member pathways
12.65 CACNA1C CACNA2D1 CACNB2 CALM2 SCN1B SCN5A
7
Show member pathways
12.64 CACNA1C CACNA2D1 CACNB2 CALM2
8
Show member pathways
12.52 CACNA2D1 SCN10A SCN1B SCN2B SCN3B SCN5A
9 12.44 SCN10A SCN1B SCN2B SCN5A
10
Show member pathways
12.36 CACNA1C CACNA2D1 CACNB2 CALM2
11
Show member pathways
12.29 CACNA1C CACNA2D1 CACNB2 PKP2
12 12.2 CACNA1C CACNB2 CALM2 KCND3 KCNE3 KCNH2
13
Show member pathways
12.19 CACNA1C CACNA2D1 CACNB2 CALM2
14 12.06 GPD1L KCNH2 SCN3B SCN5A
15
Show member pathways
12 ABCC9 HCN4 KCND3 KCNH2
16
Show member pathways
11.91 CACNA1C CACNA2D1 CACNB2
17
Show member pathways
11.9 SCN10A SCN1B SCN2B SCN3B SCN5A
18 11.64 CACNA1C CACNA2D1 CACNB2
19 11.5 CACNA1C CACNA2D1 CACNB2
20 11.48 ABCC9 CACNA1C CACNB2 HCN4 KCND3 KCNE3
21 11.4 CACNA1C CACNA2D1 CACNB2
22
Show member pathways
11.28 CACNA1C CACNA2D1 CACNB2 CALM2 KCNE3 KCNE5
23 11.27 CACNA1C CACNA2D1 CACNB2 CALM2
24 11.13 SCN10A SCN1B SCN2B SCN3B SCN5A

GO Terms for Brugada Syndrome

Cellular components related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 ABCC9 CACNA1C CACNA2D1 CACNB2 CALM2 GPD1L
2 Z disc GO:0030018 9.69 CACNA1C SCN3B SCN5A
3 intercalated disc GO:0014704 9.67 PKP2 RANGRF SCN1B SCN5A
4 T-tubule GO:0030315 9.65 CACNA2D1 SCN1B SCN5A
5 sarcolemma GO:0042383 9.65 ABCC9 CACNB2 KCND3 SCN5A SLMAP
6 voltage-gated calcium channel complex GO:0005891 9.61 CACNA1C CACNA2D1 CACNB2
7 voltage-gated potassium channel complex GO:0008076 9.55 ABCC9 KCND3 KCNE3 KCNE5 KCNH2
8 L-type voltage-gated calcium channel complex GO:1990454 9.5 CACNA1C CACNA2D1 CACNB2
9 sodium channel complex GO:0034706 9.49 SCN1B TRPM4
10 voltage-gated sodium channel complex GO:0001518 9.02 SCN10A SCN1B SCN2B SCN3B SCN5A
11 membrane GO:0016020 10.39 ABCC9 CACNA1C CACNA2D1 CACNB2 GPD1L HCN4
12 integral component of membrane GO:0016021 10.31 ABCC9 CACNA1C CACNA2D1 HCN4 KCND3 KCNE3

Biological processes related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.98 CACNA1C CACNA2D1 CACNB2 TRPM4
2 protein localization to plasma membrane GO:0072659 9.98 CACNB2 PKP2 SCN3B SLMAP
3 cardiac muscle contraction GO:0060048 9.97 KCNE5 KCNH2 SCN1B SCN2B SCN3B SCN5A
4 regulation of membrane potential GO:0042391 9.96 HCN4 KCNH2 RANGRF TRPM4
5 regulation of sodium ion transmembrane transporter activity GO:2000649 9.95 GPD1L RANGRF SCN1B SCN2B SCN3B
6 regulation of heart rate GO:0002027 9.95 CALM2 GPD1L HCN4 RANGRF SCN10A SCN5A
7 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.93 CACNA2D1 KCNE5 KCNH2 SCN1B SCN5A
8 regulation of ion transmembrane transport GO:0034765 9.93 CACNA1C CACNA2D1 CACNB2 HCN4 KCND3 KCNE3
9 membrane depolarization during action potential GO:0086010 9.91 KCNH2 SCN10A SCN3B SCN5A
10 positive regulation of sodium ion transport GO:0010765 9.91 GPD1L PKP2 SCN1B SCN3B SCN5A
11 ventricular cardiac muscle cell action potential GO:0086005 9.88 GPD1L KCNE5 KCNH2 PKP2 SCN3B SCN5A
12 membrane depolarization during AV node cell action potential GO:0086045 9.86 CACNA1C CACNB2 SCN5A TRPM4
13 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.85 CACNA1C HCN4 SCN1B SCN2B SCN3B SCN5A
14 membrane depolarization GO:0051899 9.84 SCN1B SCN3B SCN5A
15 regulation of cardiac muscle contraction GO:0055117 9.84 CALM2 HCN4 SCN10A
16 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.83 CACNA1C PKP2 TRPM4
17 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.83 SCN10A SCN1B SCN2B SCN3B SCN5A
18 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.82 KCND3 KCNE5 KCNH2
19 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.81 GPD1L SCN3B SCN5A
20 atrial cardiac muscle cell action potential GO:0086014 9.81 KCNE5 SCN3B SCN5A
21 potassium ion export GO:0071435 9.8 KCND3 KCNE5 KCNH2
22 regulation of sodium ion transmembrane transport GO:1902305 9.8 RANGRF SCN5A SLMAP
23 SA node cell action potential GO:0086015 9.79 HCN4 SCN3B SCN5A
24 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.77 SCN1B SCN5A TRPM4
25 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.77 CACNA1C CACNB2 SCN5A
26 membrane depolarization during bundle of His cell action potential GO:0086048 9.76 CACNA2D1 SCN5A TRPM4
27 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.73 CACNA1C CALM2
28 positive regulation of heart rate GO:0010460 9.73 SCN3B TRPM4
29 regulation of potassium ion transmembrane transport GO:1901379 9.73 KCNE5 KCNH2
30 calcium ion transport into cytosol GO:0060402 9.73 CACNA1C CACNA2D1
31 positive regulation of potassium ion transmembrane transport GO:1901381 9.72 KCNE5 KCNH2
32 sodium ion import across plasma membrane GO:0098719 9.72 HCN4 TRPM4
33 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.72 CACNA1C PKP2
34 positive regulation of protein localization to cell surface GO:2000010 9.72 GPD1L RANGRF
35 regulation of membrane repolarization GO:0060306 9.72 KCNE5 KCNH2
36 membrane repolarization GO:0086009 9.71 KCND3 KCNH2
37 negative regulation of potassium ion transmembrane transport GO:1901380 9.71 KCNE5 KCNH2
38 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.71 HCN4 RANGRF
39 regulation of membrane depolarization GO:0003254 9.71 HCN4 RANGRF
40 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.71 KCND3 KCNH2
41 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.7 KCNE5 SCN5A
42 membrane depolarization during SA node cell action potential GO:0086046 9.7 HCN4 SCN5A
43 regulation of membrane depolarization during cardiac muscle cell action potential GO:1900825 9.7 RANGRF SLMAP
44 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.69 CACNA2D1 CACNB2
45 potassium ion export across plasma membrane GO:0097623 9.69 KCND3 KCNH2
46 response to pyrethroid GO:0046684 9.69 SCN1B SCN2B
47 AV node cell action potential GO:0086016 9.68 SCN10A SCN5A
48 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.67 CACNA1C CACNA2D1
49 bundle of His cell action potential GO:0086043 9.67 SCN10A SCN5A
50 cardiac conduction GO:0061337 9.61 CACNA1C CACNA2D1 CACNB2 KCND3 KCNH2 SCN1B

Molecular functions related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.88 ABCC9 HCN4 KCND3 KCNE3 KCNH2
2 ion channel activity GO:0005216 9.88 CACNA1C HCN4 KCNH2 SCN10A SCN5A TRPM4
3 voltage-gated potassium channel activity GO:0005249 9.83 HCN4 KCND3 KCNE3 KCNE5 KCNH2
4 calcium channel activity GO:0005262 9.81 CACNA1C CACNA2D1 CACNB2 TRPM4
5 voltage-gated ion channel activity GO:0005244 9.81 CACNA1C HCN4 KCND3 KCNH2 SCN10A SCN1B
6 sodium channel regulator activity GO:0017080 9.8 GPD1L PKP2 RANGRF SCN1B SCN2B SCN3B
7 potassium channel regulator activity GO:0015459 9.73 ABCC9 KCNE3 KCNE5
8 voltage-gated sodium channel activity GO:0005248 9.73 HCN4 SCN10A SCN1B SCN2B SCN3B SCN5A
9 voltage-gated calcium channel activity GO:0005245 9.72 CACNA1C CACNA2D1 CACNB2
10 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.67 KCND3 KCNE5 KCNH2
11 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.67 SCN1B SCN2B SCN3B SCN5A
12 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.63 CACNA1C CACNA2D1 CACNB2
13 high voltage-gated calcium channel activity GO:0008331 9.58 CACNA1C CACNB2
14 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.57 KCND3 KCNH2
15 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.54 CACNA1C CACNB2
16 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.52 SCN1B SCN5A
17 sodium channel activity GO:0005272 9.5 HCN4 SCN10A SCN1B SCN2B SCN3B SCN5A
18 ion channel binding GO:0044325 9.36 ABCC9 CALM2 GPD1L KCND3 KCNE3 KCNE5

Sources for Brugada Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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