MCID: BRG001
MIFTS: 61

Brugada Syndrome

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Brugada Syndrome

MalaCards integrated aliases for Brugada Syndrome:

Name: Brugada Syndrome 12 77 25 54 26 60 38 30 56 6 45 15 41 74
Sudden Unexpected Nocturnal Death Syndrome 25 54 26 74
Sudden Unexplained Nocturnal Death Syndrome 12 60 74
Pokkuri Death Syndrome 12 26 60
Bangungut 12 26 60
Sunds 12 26 60
Idiopathic Ventricular Fibrillation, Brugada Type 26 60
Dream Disease 12 60
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 54
Brugada Type Idiopathic Ventricular Fibrillation 12
Sudden Unexplained Death Syndrome 26
Death, Sudden, Unexplained 41
Sudden Unexplained Death 6
Suds 26

Characteristics:

Orphanet epidemiological data:

60
brugada syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

GeneReviews:

25
Penetrance Among individuals with an scn5a pathogenic variant:...

Classifications:



External Ids:

Disease Ontology 12 DOID:0050451
KEGG 38 H00728
MeSH 45 D053840
ICD10 34 I49.8
MESH via Orphanet 46 D053840
ICD10 via Orphanet 35 I49.8
UMLS via Orphanet 75 C1142166 C1955837
Orphanet 60 ORPHA130

Summaries for Brugada Syndrome

NIH Rare Diseases : 54 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).

MalaCards based summary : Brugada Syndrome, also known as sudden unexpected nocturnal death syndrome, is related to brugada syndrome 2 and brugada syndrome 1. 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 Ajmaline and Procainamide have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and skin, and related phenotypes are no effect and cardiovascular system

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

Genetics Home Reference : 26 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.

Wikipedia : 77 Brugada syndrome (BrS) is a genetic disorder in which the electrical activity within the heart is... 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 131)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 2 34.7 GPD1L SCN5A
2 brugada syndrome 1 34.7 KCNH2 KCNJ8 SCN5A
3 brugada syndrome 5 34.7 SCN1B SCN5A
4 ventricular fibrillation, paroxysmal familial, 1 33.1 CACNA1C KCNH2 SCN5A
5 atrial fibrillation 31.3 ABCC9 HCN4 KCNH2 SCN1B SCN2B SCN3B
6 sick sinus syndrome 31.2 CACNA1C HCN4 SCN5A
7 arrhythmogenic right ventricular cardiomyopathy 31.1 HCN4 KCNH2 PKP2 SCN5A
8 cardiac arrest 31.0 CACNB2 CALM2 KCNH2 SCN5A
9 right bundle branch block 31.0 CACNA1C CACNB2 GPD1L HCN4 KCND3 SCN1B
10 heart disease 30.9 CACNA1C HCN4 KCNH2 PKP2 SCN5A
11 atrial standstill 1 30.8 PKP2 SCN1B SCN5A
12 short qt syndrome 30.7 CACNA1C CACNA2D1 CACNB2 KCNH2 TRPM4
13 catecholaminergic polymorphic ventricular tachycardia 30.7 CALM2 KCNH2 SCN5A
14 sudden infant death syndrome 30.6 GPD1L KCNH2 KCNJ8 SCN2B SCN3B SCN5A
15 long qt syndrome 30.6 CACNA1C CACNB2 CALM2 GPD1L HCN4 KCND3
16 cardiac arrhythmia 30.4 CACNA1C KCNH2 SCN5A
17 coronary artery vasospasm 30.4 ABCC9 KCNJ8
18 atrioventricular block 30.4 HCN4 KCNH2 SCN5A TRPM4
19 brugada syndrome 3 12.6
20 brugada syndrome 4 12.6
21 brugada syndrome 6 12.6
22 brugada syndrome 8 12.6
23 brugada syndrome 9 12.6
24 brugada syndrome 7 12.5
25 sudden arrhythmia death syndrome 11.3
26 central hypoventilation syndrome, congenital 11.2
27 epileptic encephalopathy, early infantile, 13 11.2
28 syncope 10.6
29 familial sick sinus syndrome 10.5 HCN4 SCN5A
30 familial progressive cardiac conduction defect 10.5 SCN1B SCN5A TRPM4
31 cardiac conduction defect 10.5
32 jervell and lange-nielsen syndrome 1 10.5 CACNA1C KCNH2 SCN5A
33 progressive familial heart block 10.5 SCN1B SCN5A TRPM4
34 long qt syndrome 6 10.5 CACNA1C KCNH2 SCN5A
35 hypokalemic periodic paralysis, type 1 10.5 CACNA1C KCNE3 KCNE5
36 timothy syndrome 10.5 CACNA1C CACNA2D1 CACNB2 KCNH2
37 heart conduction disease 10.5 HCN4 KCND3 KCNH2 SCN5A
38 cantu syndrome 10.5 ABCC9 CACNA1C KCNJ8
39 intrinsic cardiomyopathy 10.5 KCNH2 PKP2 SCN5A
40 familial short qt syndrome 10.4 CACNA2D1 KCNH2
41 progressive familial heart block, type ia 10.4
42 long qt syndrome 13 10.4 KCNH2 SCN5A
43 progressive familial heart block, type ib 10.4
44 long qt syndrome 12 10.4 KCNH2 SCN5A
45 cardiomyopathy, dilated, 1o 10.4 ABCC9 KCNJ8
46 third-degree atrioventricular block 10.4 HCN4 SCN5A
47 ischemia 10.4
48 early repolarization associated with ventricular fibrillation 10.3
49 dilated cardiomyopathy 10.3 ABCC9 CACNA1C CACNB2 KCNH2 PKP2 SCN5A
50 familial atrial fibrillation 10.3 ABCC9 KCNE3 KCNE5 KCNH2 SCN1B SCN2B

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



Diseases related to Brugada Syndrome

Symptoms & Phenotypes for Brugada Syndrome

GenomeRNAi Phenotypes related to Brugada Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABCC9 CACNA1C CACNA2D1 CACNB2 CALM2 GPD1L

MGI Mouse Phenotypes related to Brugada Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 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 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ajmaline Approved, Experimental Phase 4,Phase 2,Not Applicable 4360-12-7 441080
2
Procainamide Approved Phase 4 51-06-9 4913
3 Lorajmine Experimental Phase 4,Phase 2,Not Applicable 47562-08-3
4 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Not Applicable
5 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Not Applicable
6 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Not Applicable
7
Amifampridine Approved, Investigational Phase 3 54-96-6
8
Quinidine Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 56-54-2 441074
9 Hydroquinidine Approved, Investigational Phase 2, Phase 3,Phase 3 1435-55-8
10 Peripheral Nervous System Agents Phase 3,Not Applicable
11 Potassium Channel Blockers Phase 3
12 Neuromuscular Agents Phase 3
13 Adrenergic Agents Phase 2, Phase 3,Phase 3,Not Applicable
14 Neurotransmitter Agents Phase 2, Phase 3,Phase 3,Not Applicable
15 Autonomic Agents Phase 3,Not Applicable
16 Quinidine gluconate Phase 2, Phase 3,Phase 3,Not Applicable
17 Cytochrome P-450 Enzyme Inhibitors Phase 2, Phase 3,Phase 3
18 Adrenergic alpha-Antagonists Phase 2, Phase 3,Phase 3
19 Antimalarials Phase 2, Phase 3,Phase 3
20 Muscarinic Antagonists Phase 2, Phase 3,Phase 3
21 Cholinergic Antagonists Phase 2, Phase 3,Phase 3
22 Antiparasitic Agents Phase 2, Phase 3,Phase 3
23 Cytochrome P-450 CYP2D6 Inhibitors Phase 2, Phase 3,Phase 3
24 Anti-Infective Agents Phase 2, Phase 3,Phase 3
25 Adrenergic Antagonists Phase 2, Phase 3,Phase 3
26 Cholinergic Agents Phase 2, Phase 3,Phase 3
27 Antiprotozoal Agents Phase 2, Phase 3,Phase 3
28 Parasympatholytics Phase 3
29
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
30
Racepinephrine Approved Not Applicable 329-65-7 838
31
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
32 Anesthetics Not Applicable
33 Vasoconstrictor Agents Not Applicable
34 Adrenergic alpha-Agonists Not Applicable
35 Adrenergic Agonists Not Applicable
36 Central Nervous System Depressants Not Applicable
37 Bronchodilator Agents Not Applicable
38 Epinephryl borate Not Applicable
39 Respiratory System Agents Not Applicable
40 Anti-Asthmatic Agents Not Applicable
41 Anesthetics, Local Not Applicable
42 Mydriatics Not Applicable
43 Sympathomimetics Not Applicable
44 Adrenergic beta-Agonists Not Applicable

Interventional clinical trials:

(show all 28)
# 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 DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome Unknown status NCT00701077 Phase 3 3,4-Di-amino-Pyridine;placebo
3 Empiric Quinidine for Asymptomatic Brugada Syndrome Active, not recruiting NCT00789165 Phase 2, Phase 3 quinidine;no therapy
4 Hydroquinidine Versus Placebo in Patients With Brugada Syndrome Terminated NCT00927732 Phase 3 hydroquinidine;placebo (sugar)
5 The Response To Ajmaline Provocation in Healthy Subjects Recruiting NCT02933437 Phase 2 Ajmaline
6 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
7 AnalyST & Brugada Syndrome - Feasibility Study Completed NCT02052765 Not Applicable
8 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Completed NCT02302274 flecainide iv
9 Epicardial Ablation in Brugada Syndrome Completed NCT02641431 Not Applicable Ajmaline
10 Evaluation of Subcutaneous Implantable Cardiac Defibrillator in Brugada Patients Completed NCT02344277
11 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Completed NCT03182777 Not Applicable
12 The Brugada Syndrome: a Follow-up Study Recruiting NCT03485508
13 Ripple Mapping for Epicardial Mapping of Brugada Syndrome Recruiting NCT03435393
14 Ablation in Brugada Syndrome for the Prevention of VF Recruiting NCT02704416 Not Applicable
15 Right Ventricle Morphology and Hemodynamics in BrS Recruiting NCT03524079 Ajmaline 17-(Chloroacetate) Monohydrochloride
16 Epicardial Ablation in Brugada Syndrome. An Extension Study of 500 BrS.Patients Recruiting NCT03106701 Not Applicable
17 Epicardial Ablation in Brugada Syndrome to Prevent Sudden Death Recruiting NCT03294278 Not Applicable
18 Echocardiography During Ajmaline Test Recruiting NCT03491475 Ajmaline test
19 VF Mapping in Brugada and Early Repolarization Syndromes Recruiting NCT03764592
20 Worm Study: Modifier Genes in Sudden Cardiac Death Recruiting NCT02014961 Not Applicable
21 Sudden Unexplained Death in Childhood (SUDC) Registry Recruiting NCT03109197
22 China Inherited Ventricular Arrhythmias Registry Recruiting NCT03880708
23 Efficacy of Transcatheter Ablation Using Anatomic Approach of Ganglionated Plexi Located in the Right Atrium to Prevent Neuromediated Cardioinhibitory Syncope Recruiting NCT01814228 Not Applicable
24 Fetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
25 Registry of Unexplained Cardiac Arrest Recruiting NCT00292032
26 Investigating Hereditary Cardiac Disease by Reprogramming Skin Cells to Heart Muscle Active, not recruiting NCT01865981
27 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450
28 Rhythmic Risk of Type 1 Brugada Syndrome and Pulmonary Infundibulum Mapping Not yet recruiting NCT03572881 Not Applicable

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 30

Anatomical Context for Brugada Syndrome

MalaCards organs/tissues related to Brugada Syndrome:

42
Heart, Testes, Skin, Smooth Muscle, Eye, Skeletal Muscle, Brain

Publications for Brugada Syndrome

Articles related to Brugada Syndrome:

(show top 50) (show all 1645)
# Title Authors Year
1
Biventricular myocardial strain analysis using cardiac magnetic resonance feature tracking (CMR-FT) in patients with distinct types of right ventricular diseases comparing arrhythmogenic right ventricular cardiomyopathy (ARVC), right ventricular outflow-tract tachycardia (RVOT-VT), and Brugada syndrome (BrS). ( 30868222 )
2019
2
The dividing line of arrhythmogenic right ventricular cardiomyopathy and Brugada syndrome at epicardial ablation era: Limited to or beyond RVOT? ( 30945319 )
2019
3
Ablation of atrial fibrillation in patients with Brugada syndrome: A systematic review of the literature. ( 30805040 )
2019
4
First-degree atrioventricular block on basal electrocardiogram predicts future arrhythmic events in patients with Brugada syndrome: a long-term follow-up study from the Veneto region of Northeastern Italy. ( 29986018 )
2019
5
A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death. ( 30170230 )
2019
6
Clinical presentation and follow-up of women affected by Brugada syndrome. ( 30193851 )
2019
7
Multiple serial ECGs aid with the diagnosis and prognosis of Brugada syndrome. ( 30195842 )
2019
8
Systematic re-evaluation of SCN5A variants associated with Brugada syndrome. ( 30203441 )
2019
9
Multi-disciplinary approach to perioperative risk assessment and post-transplant management for liver transplantation in a patient at risk for Brugada syndrome. ( 30212282 )
2019
10
Gender difference in Brugada syndrome: Mirror images of long QT syndrome? ( 30217525 )
2019
11
SCN5A variants in Brugada syndrome: True, true false, or false true. ( 30375078 )
2019
12
Brugada Syndrome: anesthetic considerations and management algorithm. ( 30394071 )
2019
13
Prevalence of spontaneous type I ECG pattern, syncope, and other risk markers in sudden cardiac arrest survivors with Brugada syndrome. ( 30569504 )
2019
14
Brugada Syndrome: a challenge for the anesthesiologists. ( 30621381 )
2019
15
Clinical and Electrocardiographic Differences in Brugada Syndrome With Spontaneous or Drug-Induced Type 1 Electrocardiogram. ( 30643106 )
2019
16
Gender difference in clinical and genetic characteristics of Brugada syndrome: SADS-TW BrS registry. ( 30690642 )
2019
17
Electrocardiographic changes in STEMI with Brugada syndrome. ( 30693844 )
2019
18
Meta-Analysis of Clinical Outcome After Implantable Cardioverter-Defibrillator Implantation in Patients With Brugada Syndrome. ( 30784682 )
2019
19
Implantable Cardioverter-Defibrillator Therapy in Brugada Syndrome: Looking for Light at the End of the Tunnel. ( 30784683 )
2019
20
Ajmaline infusion during automated screening in Brugada syndrome and spontaneous Type 1 electrocardiogram unmasks non-suitability for subcutaneous implantable cardioverter-defibrillator. ( 30793741 )
2019
21
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome. ( 30821013 )
2019
22
SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis. ( 30828344 )
2019
23
Meta-Analysis of Risk Stratification of SCN5A With Brugada Syndrome: Is SCN5A Always a Marker of Low Risk? ( 30837887 )
2019
24
Anaesthetic management of C-section in Brugada syndrome: When less is more. ( 30862400 )
2019
25
Brugada Syndrome Caused by Autonomic Dysfunction in Multiple Sclerosis. ( 30881703 )
2019
26
Myocardial Inflammation in Brugada Syndrome. ( 30898219 )
2019
27
Reply: Myocardial Inflammation in Brugada Syndrome. ( 30898220 )
2019
28
Programmed Ventricular Stimulation in the Management of Brugada Syndrome Patients. ( 30916183 )
2019
29
Brugada Syndrome: Progress in Diagnosis and Management. ( 30918662 )
2019
30
Brugada Syndrome: Progress in Genetics, Risk Stratification and Management. ( 30918663 )
2019
31
Brugada pattern, brugada phenocopy or brugada syndome: That is the question. ( 30924156 )
2019
32
Letter by London Regarding Article, "Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome". ( 30933610 )
2019
33
Response by Wilde and Gollob to Letter Regarding Article, "Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome". ( 30933625 )
2019
34
QRS Vector Magnitude as Predictor of Ventricular Arrhythmia in Patients With Brugada Syndrome. ( 30955864 )
2019
35
Brugada syndrome with SCN5A mutations exhibits more pronounced electrophysiological defects and more severe prognosis: A meta-analysis. ( 30963536 )
2019
36
Syncope in a patient with acute pulmonary embolism and Brugada Type-2 ECG pattern: Brugada phenocopy or Brugada syndrome? ( 30965210 )
2019
37
Characterization and Management of Arrhythmic Events in Young Patients With Brugada Syndrome. ( 30975291 )
2019
38
Brugada Syndrome in the Young and in the Adult: A Tale of 2 Diseases? ( 30975292 )
2019
39
Unexpected Risk Profile of a Large Pediatric Population With Brugada Syndrome. ( 30975305 )
2019
40
Comparison of Ajmaline and Procainamide Provocation Tests in the Diagnosis of Brugada Syndrome. ( 31000106 )
2019
41
Drug Provocation Testing in Brugada Syndrome: A Test of Uncertain Significance. ( 31000107 )
2019
42
Sudden Cardiac Death in Brugada Syndrome. ( 31008774 )
2019
43
Experimental Models of Brugada syndrome. ( 31032819 )
2019
44
Sudden Cardiac Death in Long QT syndrome (LQTS), Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). ( 31078562 )
2019
45
A cellular model of Brugada syndrome with SCN10A variants using human-induced pluripotent stem cell-derived cardiomyocytes. ( 31106349 )
2019
46
Familial Brugada Syndrome Associated With a Complete Deletion of the SCN5A and SCN10A Genes. ( 29650450 )
2019
47
SCN5A mutation status increases the risk of major arrhythmic events in Asian populations with Brugada syndrome: systematic review and meta-analysis. ( 30126015 )
2019
48
Right bundle branch block and conduction disturbances in Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy. ( 29804172 )
2018
49
Deletion in mice of X-linked, Brugada syndrome- and atrial fibrillation-associated Kcne5 augments ventricular KV currents and predisposes to ventricular arrhythmia. ( 30289750 )
2018
50
Calcium in Brugada Syndrome: Questions for Future Research. ( 30147658 )
2018

Variations for Brugada Syndrome

ClinVar genetic disease variations for Brugada Syndrome:

6 (show top 50) (show all 3643)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPD1L NM_015141.3(GPD1L): c.839C> T (p.Ala280Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72552291 GRCh37 Chromosome 3, 32200588: 32200588
2 GPD1L NM_015141.3(GPD1L): c.839C> T (p.Ala280Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72552291 GRCh38 Chromosome 3, 32159096: 32159096
3 GPD1L NM_015141.3(GPD1L): c.370A> G (p.Ile124Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72552293 GRCh37 Chromosome 3, 32181723: 32181723
4 GPD1L NM_015141.3(GPD1L): c.370A> G (p.Ile124Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72552293 GRCh38 Chromosome 3, 32140231: 32140231
5 GPD1L NM_015141.3(GPD1L): c.817C> T (p.Arg273Cys) single nucleotide variant Uncertain significance rs72552294 GRCh37 Chromosome 3, 32200566: 32200566
6 GPD1L NM_015141.3(GPD1L): c.817C> T (p.Arg273Cys) single nucleotide variant Uncertain significance rs72552294 GRCh38 Chromosome 3, 32159074: 32159074
7 SCN3B NM_018400.3(SCN3B): c.29T> C (p.Leu10Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs121918282 GRCh37 Chromosome 11, 123524481: 123524481
8 SCN3B NM_018400.3(SCN3B): c.29T> C (p.Leu10Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs121918282 GRCh38 Chromosome 11, 123653773: 123653773
9 SCN3B NM_018400.3(SCN3B): c.29T> C (p.Leu10Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs121918282 NCBI36 Chromosome 11, 123029691: 123029691
10 KCNE3 NM_005472.4(KCNE3): c.296G> A (p.Arg99His) single nucleotide variant Conflicting interpretations of pathogenicity rs121908441 GRCh37 Chromosome 11, 74168313: 74168313
11 KCNE3 NM_005472.4(KCNE3): c.296G> A (p.Arg99His) single nucleotide variant Conflicting interpretations of pathogenicity rs121908441 GRCh38 Chromosome 11, 74457268: 74457268
12 SCN5A NM_198056.2(SCN5A): c.4931G> A (p.Arg1644His) single nucleotide variant Pathogenic rs28937316 GRCh37 Chromosome 3, 38592932: 38592932
13 SCN5A NM_198056.2(SCN5A): c.4931G> A (p.Arg1644His) single nucleotide variant Pathogenic rs28937316 GRCh38 Chromosome 3, 38551441: 38551441
14 SCN5A NM_198056.2(SCN5A): c.3694C> T (p.Arg1232Trp) single nucleotide variant Uncertain significance rs199473207 GRCh37 Chromosome 3, 38608046: 38608046
15 SCN5A NM_198056.2(SCN5A): c.3694C> T (p.Arg1232Trp) single nucleotide variant Uncertain significance rs199473207 GRCh38 Chromosome 3, 38566555: 38566555
16 SCN5A NM_198056.2(SCN5A): c.5384A> G (p.Tyr1795Cys) single nucleotide variant Pathogenic rs137854614 GRCh37 Chromosome 3, 38592479: 38592479
17 SCN5A NM_198056.2(SCN5A): c.5384A> G (p.Tyr1795Cys) single nucleotide variant Pathogenic rs137854614 GRCh38 Chromosome 3, 38550988: 38550988
18 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854601 GRCh37 Chromosome 3, 38592513: 38592513
19 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854601 GRCh38 Chromosome 3, 38551022: 38551022
20 SCN5A NM_000335.4(SCN5A): c.4531C> T (p.Arg1511Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137854602 GRCh37 Chromosome 3, 38597155: 38597155
21 SCN5A NM_000335.4(SCN5A): c.4531C> T (p.Arg1511Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137854602 GRCh38 Chromosome 3, 38555664: 38555664
22 SCN5A NM_198056.2(SCN5A): c.5770G> A (p.Ala1924Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137854603 GRCh37 Chromosome 3, 38592093: 38592093
23 SCN5A NM_198056.2(SCN5A): c.5770G> A (p.Ala1924Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137854603 GRCh38 Chromosome 3, 38550602: 38550602
24 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh37 Chromosome 3, 38592734: 38592734
25 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh38 Chromosome 3, 38551243: 38551243
26 SCN5A NM_198056.2(SCN5A): c.4783G> A (p.Asp1595Asn) single nucleotide variant Pathogenic/Likely pathogenic rs137854607 GRCh37 Chromosome 3, 38595800: 38595800
27 SCN5A NM_198056.2(SCN5A): c.4783G> A (p.Asp1595Asn) single nucleotide variant Pathogenic/Likely pathogenic rs137854607 GRCh38 Chromosome 3, 38554309: 38554309
28 SCN5A NM_000335.4(SCN5A): c.5474G> A (p.Arg1825His) single nucleotide variant Uncertain significance rs137854610 GRCh37 Chromosome 3, 38592386: 38592386
29 SCN5A NM_000335.4(SCN5A): c.5474G> A (p.Arg1825His) single nucleotide variant Uncertain significance rs137854610 GRCh38 Chromosome 3, 38550895: 38550895
30 SCN5A NM_198056.2(SCN5A): c.1100G> A (p.Arg367His) single nucleotide variant Pathogenic rs28937318 GRCh37 Chromosome 3, 38648200: 38648200
31 SCN5A NM_198056.2(SCN5A): c.1100G> A (p.Arg367His) single nucleotide variant Pathogenic rs28937318 GRCh38 Chromosome 3, 38606709: 38606709
32 SCN5A NM_198056.2(SCN5A): c.2204C> T (p.Ala735Val) single nucleotide variant Likely pathogenic rs137854611 GRCh37 Chromosome 3, 38639278: 38639278
33 SCN5A NM_198056.2(SCN5A): c.2204C> T (p.Ala735Val) single nucleotide variant Likely pathogenic rs137854611 GRCh38 Chromosome 3, 38597787: 38597787
34 SCN5A NM_000335.4(SCN5A): c.3575G> A (p.Arg1192Gln) single nucleotide variant risk factor rs41261344 GRCh37 Chromosome 3, 38616876: 38616876
35 SCN5A NM_000335.4(SCN5A): c.3575G> A (p.Arg1192Gln) single nucleotide variant risk factor rs41261344 GRCh38 Chromosome 3, 38575385: 38575385
36 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
37 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh38 Chromosome 3, 38579416: 38579416
38 SCN5A NM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg) single nucleotide variant Pathogenic rs137854612 GRCh37 Chromosome 3, 38601661: 38601661
39 SCN5A NM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg) single nucleotide variant Pathogenic rs137854612 GRCh38 Chromosome 3, 38560170: 38560170
40 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh37 Chromosome 3, 38655278: 38655278
41 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh38 Chromosome 3, 38613787: 38613787
42 SCN5A NM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His) single nucleotide variant Pathogenic rs137854615 GRCh37 Chromosome 3, 38592480: 38592480
43 SCN5A NM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His) single nucleotide variant Pathogenic rs137854615 GRCh38 Chromosome 3, 38550989: 38550989
44 SCN5A NM_198056.2(SCN5A): c.1535C> T (p.Thr512Ile) single nucleotide variant Uncertain significance rs199473118 GRCh37 Chromosome 3, 38645558: 38645558
45 SCN5A NM_198056.2(SCN5A): c.1535C> T (p.Thr512Ile) single nucleotide variant Uncertain significance rs199473118 GRCh38 Chromosome 3, 38604067: 38604067
46 SCN5A NM_198056.2(SCN5A): c.3784G> A (p.Gly1262Ser) single nucleotide variant Uncertain significance rs137854616 GRCh37 Chromosome 3, 38607956: 38607956
47 SCN5A NM_198056.2(SCN5A): c.3784G> A (p.Gly1262Ser) single nucleotide variant Uncertain significance rs137854616 GRCh38 Chromosome 3, 38566465: 38566465
48 SCN5A NM_198056.2(SCN5A): c.3157G> A (p.Glu1053Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137854617 GRCh37 Chromosome 3, 38622493: 38622493
49 SCN5A NM_198056.2(SCN5A): c.3157G> A (p.Glu1053Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137854617 GRCh38 Chromosome 3, 38581002: 38581002
50 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh37 Chromosome 3, 38607917: 38607917

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:

38
# 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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 CACNA1C CACNA2D1 CACNB2 CALM2 SCN10A SCN1B
2
Show member pathways
13.39 CACNA1C CACNB2 CALM2 PKP2 SCN10A SCN1B
3
Show member pathways
12.89 CACNA1C CACNA2D1 CACNB2 CALM2 SCN10A SCN1B
4
Show member pathways
12.87 CACNA1C CACNA2D1 CACNB2 CALM2 SCN1B SCN5A
5
Show member pathways
12.86 ABCC9 CACNA2D1 CACNB2 CALM2 HCN4 KCND3
6
Show member pathways
12.73 ABCC9 CACNA1C CACNA2D1 CACNB2 CALM2 KCND3
7
Show member pathways
12.63 CACNA1C CACNA2D1 CACNB2 CALM2 KCNJ8
8
Show member pathways
12.58 CACNA2D1 SCN10A SCN1B SCN2B SCN3B SCN5A
9 12.45 SCN10A SCN1B SCN2B SCN5A
10
Show member pathways
12.37 CACNA1C CACNA2D1 CACNB2 CALM2
11
Show member pathways
12.3 CACNA1C CACNA2D1 CACNB2 PKP2
12 12.22 CACNA1C CACNB2 CALM2 KCND3 KCNE3 KCNH2
13
Show member pathways
12.21 CACNA1C CACNA2D1 CACNB2 CALM2
14 12.1 GPD1L KCNH2 KCNJ8 SCN3B SCN5A
15
Show member pathways
12.05 ABCC9 HCN4 KCND3 KCNH2 KCNJ8
16
Show member pathways
11.93 SCN10A SCN1B SCN2B SCN3B SCN5A
17
Show member pathways
11.91 CACNA1C CACNA2D1 CACNB2
18 11.66 CACNA1C CACNA2D1 CACNB2
19 11.52 ABCC9 CACNA1C CACNB2 HCN4 KCND3 KCNE3
20 11.51 CACNA1C CACNA2D1 CACNB2
21 11.46 CACNA1C CACNA2D1 CACNB2 CALM2
22 11.41 CACNA1C CACNA2D1 CACNB2
23 11.29 CACNA1C CACNA2D1 CACNB2 CALM2
24
Show member pathways
11.24 CACNA1C CACNA2D1 CACNB2 CALM2 KCNE3 KCNE5
25 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 13)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 9.73 CALM2 KCND3 KCNE3 KCNE5 KCNH2 KCNJ8
2 Z disc GO:0030018 9.7 CACNA1C SCN3B SCN5A
3 sarcolemma GO:0042383 9.7 ABCC9 CACNA1C CACNB2 KCND3 KCNJ8 SCN5A
4 intercalated disc GO:0014704 9.67 PKP2 SCN1B SCN5A
5 T-tubule GO:0030315 9.65 CACNA2D1 SCN1B SCN5A
6 voltage-gated calcium channel complex GO:0005891 9.61 CACNA1C CACNA2D1 CACNB2
7 plasma membrane GO:0005886 9.6 ABCC9 CACNA1C CACNA2D1 CACNB2 CALM2 GPD1L
8 L-type voltage-gated calcium channel complex GO:1990454 9.58 CACNA1C CACNA2D1 CACNB2
9 sodium channel complex GO:0034706 9.51 SCN1B TRPM4
10 inward rectifying potassium channel GO:0008282 9.46 ABCC9 KCNJ8
11 voltage-gated sodium channel complex GO:0001518 9.35 SCN10A SCN1B SCN2B SCN3B SCN5A
12 membrane GO:0016020 10.32 ABCC9 CACNA1C CACNA2D1 CACNB2 GPD1L HCN4
13 integral component of membrane GO:0016021 10.25 ABCC9 CACNA1C CACNA2D1 HCN4 KCND3 KCNE3

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

(show top 50) (show all 59)
# Name GO ID Score Top Affiliating Genes
1 protein localization to plasma membrane GO:0072659 9.99 CACNB2 PKP2 SCN3B SLMAP
2 calcium ion transmembrane transport GO:0070588 9.98 CACNA1C CACNA2D1 CACNB2 TRPM4
3 potassium ion transmembrane transport GO:0071805 9.97 HCN4 KCND3 KCNE3 KCNH2 KCNJ8
4 regulation of ion transmembrane transport GO:0034765 9.97 CACNA1C CACNA2D1 CACNB2 HCN4 KCND3 KCNE3
5 cardiac muscle contraction GO:0060048 9.95 KCNE5 KCNH2 SCN1B SCN2B SCN3B SCN5A
6 regulation of heart rate GO:0002027 9.93 CALM2 GPD1L HCN4 SCN10A SCN5A
7 regulation of membrane potential GO:0042391 9.9 HCN4 KCNH2 TRPM4
8 regulation of sodium ion transmembrane transporter activity GO:2000649 9.9 GPD1L SCN1B SCN2B SCN3B
9 positive regulation of sodium ion transport GO:0010765 9.89 GPD1L PKP2 SCN1B SCN3B SCN5A
10 membrane depolarization during action potential GO:0086010 9.88 KCNH2 SCN10A SCN3B SCN5A
11 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.88 CACNA2D1 KCNE3 KCNE5 KCNH2 SCN1B SCN5A
12 potassium ion import across plasma membrane GO:1990573 9.86 ABCC9 HCN4 KCNJ8
13 potassium ion export across plasma membrane GO:0097623 9.86 KCND3 KCNE3 KCNE5 KCNH2
14 cardiac conduction GO:0061337 9.85 CACNA1C SCN1B SCN3B TRPM4
15 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.85 KCND3 KCNE3 KCNE5 KCNH2 KCNJ8
16 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.85 CACNA1C HCN4 SCN1B SCN2B SCN3B SCN5A
17 membrane depolarization GO:0051899 9.84 SCN1B SCN3B SCN5A
18 regulation of cardiac muscle contraction GO:0055117 9.84 CALM2 HCN4 SCN10A
19 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.83 CACNA1C PKP2 TRPM4
20 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.83 SCN10A SCN1B SCN2B SCN3B SCN5A
21 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.82 KCND3 KCNE5 KCNH2
22 atrial cardiac muscle cell action potential GO:0086014 9.82 KCNE5 SCN3B SCN5A
23 membrane repolarization during action potential GO:0086011 9.81 KCNE3 KCNE5 KCNH2
24 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.81 GPD1L SCN3B SCN5A
25 membrane depolarization during AV node cell action potential GO:0086045 9.81 CACNA1C CACNB2 SCN5A TRPM4
26 SA node cell action potential GO:0086015 9.8 HCN4 SCN3B SCN5A
27 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.79 CACNA1C CACNB2 SCN5A
28 membrane depolarization during bundle of His cell action potential GO:0086048 9.79 CACNA2D1 SCN5A TRPM4
29 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.78 SCN1B SCN5A TRPM4
30 positive regulation of heart rate GO:0010460 9.73 SCN3B TRPM4
31 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.72 CACNA1C CALM2
32 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.72 KCNE3 KCNE5
33 positive regulation of potassium ion transmembrane transport GO:1901381 9.72 KCNE5 KCNH2
34 sodium ion import across plasma membrane GO:0098719 9.72 HCN4 TRPM4
35 calcium ion transport into cytosol GO:0060402 9.71 CACNA1C CACNA2D1
36 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.71 CACNA1C PKP2
37 membrane repolarization GO:0086009 9.71 KCND3 KCNH2
38 negative regulation of potassium ion transmembrane transport GO:1901380 9.71 KCNE5 KCNH2
39 regulation of sodium ion transmembrane transport GO:1902305 9.71 SCN5A SLMAP
40 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.7 KCNE5 SCN5A
41 membrane depolarization during SA node cell action potential GO:0086046 9.7 HCN4 SCN5A
42 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.7 CACNA2D1 CACNB2
43 AV node cell action potential GO:0086016 9.69 SCN10A SCN5A
44 response to pyrethroid GO:0046684 9.69 SCN1B SCN2B
45 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.68 CACNA1C CACNA2D1
46 bundle of His cell action potential GO:0086043 9.67 SCN10A SCN5A
47 negative regulation of potassium ion export across plasma membrane GO:1903765 9.67 KCNE3 KCNH2
48 regulation of potassium ion transmembrane transport GO:1901379 9.66 KCNE5 KCNH2
49 regulation of membrane repolarization GO:0060306 9.65 KCNE5 KCNH2
50 cardiac muscle cell action potential involved in contraction GO:0086002 9.5 CACNA1C CACNA2D1 PKP2 SCN1B SCN2B SCN3B

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.91 CACNA1C HCN4 KCNH2 SCN10A SCN5A TRPM4
2 potassium channel activity GO:0005267 9.89 ABCC9 HCN4 KCND3 KCNE3 KCNH2
3 voltage-gated potassium channel activity GO:0005249 9.85 HCN4 KCND3 KCNE3 KCNE5 KCNH2
4 calcium channel activity GO:0005262 9.83 CACNA1C CACNA2D1 CACNB2 TRPM4
5 sodium channel regulator activity GO:0017080 9.8 GPD1L PKP2 SCN1B SCN2B SCN3B
6 voltage-gated calcium channel activity GO:0005245 9.75 CACNA1C CACNA2D1 CACNB2
7 potassium channel regulator activity GO:0015459 9.74 ABCC9 KCNE3 KCNE5
8 voltage-gated sodium channel activity GO:0005248 9.73 HCN4 SCN10A SCN1B SCN2B SCN3B SCN5A
9 delayed rectifier potassium channel activity GO:0005251 9.72 KCNE3 KCNE5 KCNH2
10 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.72 KCND3 KCNE3 KCNE5 KCNH2 KCNJ8
11 ion channel binding GO:0044325 9.7 ABCC9 CALM2 GPD1L KCND3 KCNE3 KCNE5
12 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.69 KCND3 KCNE5 KCNH2
13 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.67 SCN1B SCN2B SCN3B SCN5A
14 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.65 CACNA1C CACNA2D1 CACNB2
15 sodium channel activity GO:0005272 9.63 HCN4 SCN10A SCN1B SCN2B SCN3B SCN5A
16 inward rectifier potassium channel activity GO:0005242 9.6 KCNH2 KCNJ8
17 high voltage-gated calcium channel activity GO:0008331 9.59 CACNA1C CACNB2
18 sodium channel inhibitor activity GO:0019871 9.58 SCN1B SCN3B
19 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.56 CACNA1C CACNB2
20 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.54 SCN1B SCN5A
21 voltage-gated ion channel activity GO:0005244 9.32 CACNA1C HCN4 KCND3 KCNH2 KCNJ8 SCN10A

Sources for Brugada Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....