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MCID: BRG001
MIFTS: 60

Brugada Syndrome

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
Sources

Aliases & Classifications for Brugada Syndrome

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MalaCards integrated aliases for Brugada Syndrome:

Name: Brugada Syndrome 12 76 24 53 25 59 37 29 55 6 44 15 40 73
Sudden Unexpected Nocturnal Death Syndrome 24 53 25 73
Sudden Unexplained Nocturnal Death Syndrome 12 59 73
Pokkuri Death Syndrome 12 25 59
Bangungut 12 25 59
Sunds 12 25 59
Idiopathic Ventricular Fibrillation, Brugada Type 25 59
Sudden Unexplained Death 29 6
Dream Disease 12 59
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 53
Brugada Type Idiopathic Ventricular Fibrillation 12
Sudden Unexplained Death Syndrome 25
Death, Sudden, Unexplained 40
Suds 25

Characteristics:

Orphanet epidemiological data:

59
brugada syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

GeneReviews:

24
Penetrance Among individuals with an scn5a pathogenic variant:...

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33 34


External Ids:

Disease Ontology 12 DOID:0050451
ICD10 33 I49.8
MeSH 44 D053840
NCIt 50 C71059
SNOMED-CT 68 418818005
Orphanet 59 ORPHA130
MESH via Orphanet 45 D053840
UMLS via Orphanet 74 C1142166 C1955837
ICD10 via Orphanet 34 I49.8
KEGG 37 H00728
Sources

Summaries for Brugada Syndrome

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NIH Rare Diseases : 53 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 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

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 : 25 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 : 76 Brugada syndrome (BrS) is a genetic condition that results in abnormal electrical activity within the... more...

GeneReviews: NBK1517
Sources

Related Diseases for Brugada Syndrome

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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 94)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 2 35.2 GPD1L SCN5A
2 brugada syndrome 1 35.1 KCNH2 KCNJ8 SCN5A
3 brugada syndrome 5 35.0 SCN1B SCN5A
4 ventricular fibrillation, paroxysmal familial, 1 33.5 CACNA1C KCNH2 SCN5A
5 atrial fibrillation 31.4 ABCC9 HCN4 KCNH2 SCN1B SCN2B SCN3B
6 cardiac arrhythmia 31.2 CACNA1C KCNH2 SCN5A
7 short qt syndrome 31.1 CACNA1C CACNA2D1 CACNB2 KCNH2 TRPM4
8 right bundle branch block 31.1 CACNA1C CACNB2 GPD1L HCN4 KCND3 SCN1B
9 sudden infant death syndrome 30.7 GPD1L KCNH2 KCNJ8 SCN2B SCN3B SCN5A
10 catecholaminergic polymorphic ventricular tachycardia 30.6 CALM2 KCNH2 SCN5A
11 long qt syndrome 30.1 CACNA1C CALM2 GPD1L HCN4 KCND3 KCNE3
12 brugada syndrome 3 12.4
13 brugada syndrome 4 12.3
14 brugada syndrome 6 12.3
15 brugada syndrome 8 12.3
16 brugada syndrome 9 12.3
17 brugada syndrome 7 12.3
18 familial sick sinus syndrome 11.1 HCN4 SCN5A
19 familial progressive cardiac conduction defect 11.0 SCN1B SCN5A TRPM4
20 long qt syndrome 6 11.0 CACNA1C KCNH2 SCN5A
21 jervell and lange-nielsen syndrome 1 11.0 CACNA1C KCNH2 SCN5A
22 progressive familial heart block 11.0 SCN1B SCN5A TRPM4
23 timothy syndrome 11.0 CACNA1C CACNA2D1 CACNB2 KCNH2
24 hypokalemic periodic paralysis, type 1 11.0 CACNA1C KCNE3 KCNE5
25 heart conduction disease 11.0 HCN4 KCND3 KCNH2 SCN5A
26 familial short qt syndrome 10.9 CACNA2D1 KCNH2
27 cantu syndrome 10.9 ABCC9 CACNA1C KCNJ8
28 intrinsic cardiomyopathy 10.9 KCNH2 PKP2 SCN5A
29 atrioventricular block 10.9 HCN4 KCNH2 SCN5A TRPM4
30 sudden arrhythmia death syndrome 10.8
31 long qt syndrome 13 10.8 KCNH2 SCN5A
32 atrial standstill 1 10.8 PKP2 SCN1B SCN5A
33 cardiomyopathy, dilated, 1o 10.7 ABCC9 KCNJ8
34 long qt syndrome 12 10.7 KCNH2 SCN5A
35 familial atrial fibrillation 10.5 ABCC9 KCNE3 KCNE5 KCNH2 SCN1B SCN2B
36 long qt syndrome 9 10.4 HCN4 SCN5A
37 long qt syndrome 1 10.4 CACNA1C CALM2 KCNE3 KCNH2 SCN5A
38 progressive familial heart block, type ia 10.3
39 syncope 10.3
40 progressive familial heart block, type ib 10.3
41 dilated cardiomyopathy 10.2 ABCC9 CACNA1C KCNH2 PKP2 SCN5A
42 cardiac conduction defect 10.1
43 early repolarization associated with ventricular fibrillation 10.1
44 cardiac arrest 10.1
45 heart disease 10.1
46 wolff-parkinson-white syndrome 10.1
47 arrhythmogenic right ventricular cardiomyopathy 10.0
48 sick sinus syndrome 10.0
49 hypokalemia 10.0
50 epilepsy 10.0

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



Diseases related to Brugada Syndrome
Sources

Symptoms & Phenotypes for Brugada Syndrome

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MGI Mouse Phenotypes related to Brugada Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 TRPM4 ABCC9 CACNA1C CACNA2D1 CACNB2 HCN4
2 muscle MP:0005369 9.17 SCN5A ABCC9 CACNA1C CACNA2D1 HCN4 KCNH2
Sources

Drugs & Therapeutics for Brugada Syndrome

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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,Not Applicable 4360-12-7 441080
3 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
4 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5 Lorajmine Phase 4,Phase 2,Not Applicable
6 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7
4-Aminopyridine Approved Phase 3 504-24-5 1727
8
Quinidine Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 56-54-2 441074
9 3,4-diaminopyridine Phase 3
10 Potassium Channel Blockers Phase 3
11 Adrenergic Agents Phase 2, Phase 3,Phase 3,Not Applicable
12 Adrenergic alpha-Antagonists Phase 2, Phase 3,Phase 3
13 Adrenergic Antagonists Phase 2, Phase 3,Phase 3
14 Anti-Infective Agents Phase 2, Phase 3,Phase 3
15 Antimalarials Phase 2, Phase 3,Phase 3
16 Antiparasitic Agents Phase 2, Phase 3,Phase 3
17 Antiprotozoal Agents Phase 2, Phase 3,Phase 3
18 Cholinergic Agents Phase 2, Phase 3,Phase 3
19 Cholinergic Antagonists Phase 2, Phase 3,Phase 3
20 Cytochrome P-450 CYP2D6 Inhibitors Phase 2, Phase 3,Phase 3
21 Cytochrome P-450 Enzyme Inhibitors Phase 2, Phase 3,Phase 3
22 Hydroquinidine Phase 2, Phase 3,Phase 3
23 Muscarinic Antagonists Phase 2, Phase 3,Phase 3
24 Neurotransmitter Agents Phase 2, Phase 3,Phase 3,Not Applicable
25 Quinidine gluconate Phase 2, Phase 3,Phase 3,Not Applicable
26 Autonomic Agents Phase 3,Not Applicable
27 Peripheral Nervous System Agents Phase 3,Not Applicable
28 Parasympatholytics Phase 3
29
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
30
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
31
Racepinephrine Approved Not Applicable 329-65-7 838
32 Antibodies
33 Antibodies, Antinuclear
34 Immunoglobulins
35 Anesthetics Not Applicable
36 Adrenergic Agonists Not Applicable
37 Adrenergic alpha-Agonists Not Applicable
38 Adrenergic beta-Agonists Not Applicable
39 Anesthetics, Local Not Applicable
40 Anti-Asthmatic Agents Not Applicable
41 Bronchodilator Agents Not Applicable
42 Central Nervous System Depressants Not Applicable
43 Epinephryl borate Not Applicable
44 Mydriatics Not Applicable
45 Respiratory System Agents Not Applicable
46 Vasoconstrictor Agents Not Applicable

Interventional clinical trials:

(show all 30)
# 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 Hydroquinidine Versus Placebo in Patients With Brugada Syndrome Terminated NCT00927732 Phase 3 hydroquinidine;placebo (sugar)
6 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Completed NCT02302274 Phase 1, Phase 2 flecainide iv
7 The Response To Ajmaline Provocation in Healthy Subjects Recruiting NCT02933437 Phase 2 Ajmaline
8 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
9 Systemic Lupus Erythematous and Heart Conduction Disorders Unknown status NCT02162992
10 AnalyST & Brugada Syndrome - Feasibility Study Completed NCT02052765 Not Applicable
11 Epicardial Ablation in Brugada Syndrome Completed NCT02641431 Not Applicable Ajmaline
12 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum Completed NCT01609738
13 The Brugada Syndrome: a Follow-up Study Recruiting NCT03485508
14 Ripple Mapping for Epicardial Mapping of Brugada Syndrome Recruiting NCT03435393
15 Ablation in Brugada Syndrome for the Prevention of VF Recruiting NCT02704416 Not Applicable
16 Right Ventricle Morphology and Hemodynamics in BrS Recruiting NCT03524079 Ajmaline 17-(Chloroacetate) Monohydrochloride
17 Evaluation of Subcutaneous Implantable Cardiac Defibrillator in Brugada Patients Recruiting NCT02344277
18 Epicardial Ablation in Brugada Syndrome. An Extension Study of 500 BrS.Patients Recruiting NCT03106701 Not Applicable
19 Epicardial Ablation in Brugada Syndrome to Prevent Sudden Death Recruiting NCT03294278 Not Applicable
20 Echocardiography During Ajmaline Test Recruiting NCT03491475 Ajmaline test
21 Worm Study: Modifier Genes in Sudden Cardiac Death Recruiting NCT02014961 Not Applicable
22 Sudden Unexplained Death in Childhood (SUDC) Registry Recruiting NCT03109197
23 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Recruiting NCT03182777 Not Applicable
24 Efficacy of Transcatheter Ablation Using Anatomic Approach of Ganglionated Plexi Located in the Right Atrium to Prevent Neuromediated Cardioinhibitory Syncope Recruiting NCT01814228 Not Applicable
25 Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms Recruiting NCT02881671
26 Registry of Unexplained Cardiac Arrest Recruiting NCT00292032
27 Investigating Hereditary Cardiac Disease by Reprogramming Skin Cells to Heart Muscle Active, not recruiting NCT01865981
28 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450
29 Rhythmic Risk of Type 1 Brugada Syndrome and Pulmonary Infundibulum Mapping Not yet recruiting NCT03572881 Not Applicable
30 Cohort Description of Younger With AV-block Not yet recruiting NCT03024047

Search NIH Clinical Center for Brugada Syndrome

Cochrane evidence based reviews: brugada syndrome

Sources

Genetic Tests for Brugada Syndrome

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Genetic tests related to Brugada Syndrome:

# Genetic test Affiliating Genes
1 Brugada Syndrome 29
2 Sudden Unexplained Death 29
Sources

Anatomical Context for Brugada Syndrome

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MalaCards organs/tissues related to Brugada Syndrome:

41
Heart, Testes, Skin, Smooth Muscle, Skeletal Muscle, Myeloid, Eye
Sources

Publications for Brugada Syndrome

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Articles related to Brugada Syndrome:

(show top 50) (show all 856)
# Title Authors Year
1
Risk Stratification in Brugada Syndrome: Current Status and Emerging Approaches. ( 29967678 )
2018
2
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
3
Progression of ECG abnormalities Associated with Initial Ventricular Fibrillation in Asymptomatic Patients with Brugada Syndrome. ( 29953954 )
2018
4
Brugada syndrome and sinus node dysfunction. ( 29951135 )
2018
5
Intramural clefts and structural discontinuities in Brugada syndrome: the missing gap? ( 29390049 )
2018
6
Tramadol use in a patient with Brugada syndrome and morphine allergy: a case report. ( 29391825 )
2018
7
Pharmacological Therapy in Brugada Syndrome. ( 29967687 )
2018
8
Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome. ( 29959160 )
2018
9
Integration of "Omics" Strategies for Biomarkers Discovery and for the Elucidation of Molecular Mechanisms Underlying Brugada Syndrome. ( 29956481 )
2018
10
High risk electrocardiographic markers in Brugada syndrome. ( 29876505 )
2018
11
Sodium channel blockers in Brugada syndrome. ( 29878207 )
2018
12
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
13
Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, andA Cardiomyopathy. ( 29798782 )
2018
14
Right Ventricular Outflow Tract Electroanatomical Abnormalities Predict Ventricular Fibrillation Inducibility in Brugada Syndrome. ( 29437762 )
2018
15
Worldwide Prevalence of Brugada Syndrome: A Systematic Review and Meta-Analysis. ( 29844648 )
2018
16
Reappraisal of the Worldwide Prevalence of Brugada Syndrome and Brugada Phenotype: From the Old to the New Diagnostic Criteria. ( 29844649 )
2018
17
Brugada syndrome in patients with acute febrile illness. ( 29961460 )
2018
18
Concomitant Brugada syndrome substrate ablation and epicardial abdominal cardioverter-defibrillator implantation in a child. ( 29928586 )
2018
19
Concealed abnormal atrial phenotype in patients with Brugada syndrome and no history of atrial fibrillation. ( 29306474 )
2018
20
Feasibility of drugs in Brugada syndrome. ( 29360969 )
2018
21
Performance of electrophysiologic study in an asymptomatic patient with type 2 intermittent Brugada syndrome: To do or not to do. ( 29387326 )
2018
22
Pediatric Brugada Syndrome: Avoiding the Inappropriate ICD. ( 29325639 )
2018
23
Shanghai Score System for Diagnosis of Brugada Syndrome: Validation of the Score System and System and Reclassification of the Patients. ( 29929664 )
2018
24
Brugada Syndrome: Let's Talk About Sex. ( 29981479 )
2018
25
Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature. ( 29899727 )
2018
26
Brugada syndrome in a 4-year-old child with Lemierre syndrome-A case report. ( 29910587 )
2018
27
Cohort of Patients Referred for Brugada Syndrome Investigation in an Electrophysiology Service - 19-Year Registry. ( 29898017 )
2018
28
Right bundle branch block and conduction disturbances in Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy. ( 29804172 )
2018
29
Gender Differences in Patients with Brugada Syndrome and Arrhythmic Events: Data from a Survey on Arrhythmic Events in 678 Patients. ( 29908370 )
2018
30
Early Response after Catheter Ablation of the Epicardial Substrate in a Patient with Brugada Syndrome Can Be Predicted by High Precordial Leads. ( 29854472 )
2018
31
Feasibility of drugs in Brugada syndrome-authors' reply. ( 29351608 )
2018
32
A novel method to enhance phenotype, epicardial functional substrates, and ventricular tachyarrhythmias in brugada syndrome. ( 28065832 )
2017
33
Normal interventricular differences in tissue architecture underlie right ventricular susceptibility to conduction abnormalities in a mouse model of Brugada syndrome. ( 29267949 )
2017
34
Recording of isolated very delayed potentials on the right ventricular epicardium in a patient with Brugada syndrome. ( 28748141 )
2017
35
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
36
Mechanisms Underlying Epicardial Radiofrequency Ablation to Suppress Arrhythmogenesis in Experimental Models of Brugada Syndrome. ( 28948234 )
2017
37
Trafficking and localisation to the plasma membrane of Na<sub>v</sub> 1.5 promoted by the I^2 subunit is defective due to a I^2 mutation associated with Brugada syndrome. ( 28597987 )
2017
38
A Clinical Score Model to Predict Lethal Events in Young Patients (a8o19 Years) With the Brugada Syndrome. ( 28728742 )
2017
39
The Brugada Syndrome Susceptibility Gene HEY2 Modulates Cardiac Transmural Ion Channel Patterning and Electrical Heterogeneity. ( 28637782 )
2017
40
Extracorporeal Life Support as a Rescue Measure for Managing Life-Threatening Arrythmia and Brugada Syndrome. ( 29302124 )
2017
41
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
42
Role of syncope in predicting adverse outcomes in patients with suspected Brugada syndrome undergoing standardized flecainide testing. ( 29309564 )
2017
43
Impact of premature activation of the right ventricle with programmed stimulation in Brugada syndrome. ( 28884873 )
2017
44
Brugada Syndrome and Exercise Practice: Current Knowledge, Shortcomings and Open Questions. ( 28625016 )
2017
45
Brugada Syndrome and Exercise Practice: Current Knowledge, Shortcomings and Open Questions. ( 29361645 )
2017
46
A variant of Brugada syndrome. ( 28127136 )
2017
47
Epicardial ablation utilizing remote magnetic navigation in a patient with Brugada syndrome and inferior early repolarization. ( 28842979 )
2017
48
Readthrough of SCN5A Nonsense Mutations p.R1623X and p.S1812X Questions Gene-therapy in Brugada Syndrome. ( 28552050 )
2017
49
Brugada syndrome-Malignant phenotype associated with acute cardiac inflammation? ( 28840105 )
2017
50
Anesthetic and Perioperative Management of Patients With Brugada Syndrome. ( 28739038 )
2017
Sources

Variations for Brugada Syndrome

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ClinVar genetic disease variations for Brugada Syndrome:

6
(show top 50) (show all 2539)
# 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.4931G> A (p.Arg1644His) single nucleotide variant Pathogenic rs28937316 GRCh38 Chromosome 3, 38551441: 38551441
3 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic rs137854601 GRCh37 Chromosome 3, 38592513: 38592513
4 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic rs137854601 GRCh38 Chromosome 3, 38551022: 38551022
5 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh37 Chromosome 3, 38592734: 38592734
6 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh38 Chromosome 3, 38551243: 38551243
7 SCN5A NM_198056.2(SCN5A): c.4783G> A (p.Asp1595Asn) single nucleotide variant Pathogenic/Likely pathogenic rs137854607 GRCh37 Chromosome 3, 38595800: 38595800
8 SCN5A NM_198056.2(SCN5A): c.4783G> A (p.Asp1595Asn) single nucleotide variant Pathogenic/Likely pathogenic rs137854607 GRCh38 Chromosome 3, 38554309: 38554309
9 SCN5A NM_198056.2(SCN5A): c.1100G> A (p.Arg367His) single nucleotide variant Pathogenic rs28937318 GRCh37 Chromosome 3, 38648200: 38648200
10 SCN5A NM_198056.2(SCN5A): c.1100G> A (p.Arg367His) single nucleotide variant Pathogenic rs28937318 GRCh38 Chromosome 3, 38606709: 38606709
11 SCN5A NM_198056.2(SCN5A): c.2204C> T (p.Ala735Val) single nucleotide variant Likely pathogenic rs137854611 GRCh37 Chromosome 3, 38639278: 38639278
12 SCN5A NM_198056.2(SCN5A): c.2204C> T (p.Ala735Val) single nucleotide variant Likely pathogenic rs137854611 GRCh38 Chromosome 3, 38597787: 38597787
13 SCN5A NM_000335.4(SCN5A): c.3575G> A (p.Arg1192Gln) single nucleotide variant risk factor rs41261344 GRCh37 Chromosome 3, 38616876: 38616876
14 SCN5A NM_000335.4(SCN5A): c.3575G> A (p.Arg1192Gln) single nucleotide variant risk factor rs41261344 GRCh38 Chromosome 3, 38575385: 38575385
15 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
16 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh38 Chromosome 3, 38579416: 38579416
17 SCN5A NM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg) single nucleotide variant Pathogenic rs137854612 GRCh37 Chromosome 3, 38601661: 38601661
18 SCN5A NM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg) single nucleotide variant Pathogenic rs137854612 GRCh38 Chromosome 3, 38560170: 38560170
19 SCN5A NM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His) single nucleotide variant Pathogenic rs137854615 GRCh37 Chromosome 3, 38592480: 38592480
20 SCN5A NM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His) single nucleotide variant Pathogenic rs137854615 GRCh38 Chromosome 3, 38550989: 38550989
21 SCN5A NM_000335.4(SCN5A): c.3781G> A (p.Gly1261Ser) single nucleotide variant Pathogenic rs137854616 GRCh37 Chromosome 3, 38607956: 38607956
22 SCN5A NM_000335.4(SCN5A): c.3781G> A (p.Gly1261Ser) single nucleotide variant Pathogenic rs137854616 GRCh38 Chromosome 3, 38566465: 38566465
23 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh37 Chromosome 3, 38607917: 38607917
24 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh38 Chromosome 3, 38566426: 38566426
25 KCNH2 NM_000238.3(KCNH2): c.2350C> T (p.Arg784Trp) single nucleotide variant Likely pathogenic rs12720441 GRCh37 Chromosome 7, 150647304: 150647304
26 KCNH2 NM_000238.3(KCNH2): c.2350C> T (p.Arg784Trp) single nucleotide variant Likely pathogenic rs12720441 GRCh38 Chromosome 7, 150950216: 150950216
27 CACNA1C NM_000719.6(CACNA1C): c.116C> T (p.Ala39Val) single nucleotide variant Pathogenic rs121912776 GRCh37 Chromosome 12, 2224456: 2224456
28 CACNA1C NM_000719.6(CACNA1C): c.116C> T (p.Ala39Val) single nucleotide variant Pathogenic rs121912776 GRCh38 Chromosome 12, 2115290: 2115290
29 SCN5A NM_198056.2(SCN5A): c.4859C> T (p.Thr1620Met) single nucleotide variant Likely pathogenic rs199473282 GRCh37 Chromosome 3, 38593004: 38593004
30 SCN5A NM_198056.2(SCN5A): c.4859C> T (p.Thr1620Met) single nucleotide variant Likely pathogenic rs199473282 GRCh38 Chromosome 3, 38551513: 38551513
31 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
32 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh38 Chromosome 3, 38613781: 38613781
33 SCN5A NM_198056.2(SCN5A): c.1066G> A (p.Asp356Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199473565 GRCh37 Chromosome 3, 38648234: 38648234
34 SCN5A NM_198056.2(SCN5A): c.1066G> A (p.Asp356Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199473565 GRCh38 Chromosome 3, 38606743: 38606743
35 SCN5A NM_198056.2(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 GRCh37 Chromosome 3, 38648201: 38648201
36 SCN5A NM_198056.2(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 GRCh38 Chromosome 3, 38606710: 38606710
37 SCN5A NM_198056.2(SCN5A): c.1127G> A (p.Arg376His) single nucleotide variant Pathogenic/Likely pathogenic rs199473101 GRCh37 Chromosome 3, 38648173: 38648173
38 SCN5A NM_198056.2(SCN5A): c.1127G> A (p.Arg376His) single nucleotide variant Pathogenic/Likely pathogenic rs199473101 GRCh38 Chromosome 3, 38606682: 38606682
39 SCN5A NM_000335.4(SCN5A): c.1231G> A (p.Val411Met) single nucleotide variant Pathogenic rs72549410 GRCh37 Chromosome 3, 38647549: 38647549
40 SCN5A NM_000335.4(SCN5A): c.1231G> A (p.Val411Met) single nucleotide variant Pathogenic rs72549410 GRCh38 Chromosome 3, 38606058: 38606058
41 SCN5A NM_000335.4(SCN5A): c.1855C> T (p.Leu619Phe) single nucleotide variant Likely pathogenic rs199473133 GRCh37 Chromosome 3, 38645238: 38645238
42 SCN5A NM_000335.4(SCN5A): c.1855C> T (p.Leu619Phe) single nucleotide variant Likely pathogenic rs199473133 GRCh38 Chromosome 3, 38603747: 38603747
43 SCN5A NM_198056.2(SCN5A): c.2204C> A (p.Ala735Glu) single nucleotide variant Likely pathogenic rs137854611 GRCh37 Chromosome 3, 38639278: 38639278
44 SCN5A NM_198056.2(SCN5A): c.2204C> A (p.Ala735Glu) single nucleotide variant Likely pathogenic rs137854611 GRCh38 Chromosome 3, 38597787: 38597787
45 SCN5A NM_198056.2(SCN5A): c.2254G> A (p.Gly752Arg) single nucleotide variant Pathogenic/Likely pathogenic rs199473153 GRCh37 Chromosome 3, 38639228: 38639228
46 SCN5A NM_198056.2(SCN5A): c.2254G> A (p.Gly752Arg) single nucleotide variant Pathogenic/Likely pathogenic rs199473153 GRCh38 Chromosome 3, 38597737: 38597737
47 SCN5A NM_198056.2(SCN5A): c.2440C> T (p.Arg814Trp) single nucleotide variant Pathogenic/Likely pathogenic rs199473161 GRCh37 Chromosome 3, 38627529: 38627529
48 SCN5A NM_198056.2(SCN5A): c.2440C> T (p.Arg814Trp) single nucleotide variant Pathogenic/Likely pathogenic rs199473161 GRCh38 Chromosome 3, 38586038: 38586038
49 SCN5A NM_198056.2(SCN5A): c.2632C> T (p.Arg878Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473168 GRCh37 Chromosome 3, 38627337: 38627337
50 SCN5A NM_198056.2(SCN5A): c.2632C> T (p.Arg878Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473168 GRCh38 Chromosome 3, 38585846: 38585846
Sources

Expression for Brugada Syndrome

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Search GEO for disease gene expression data for Brugada Syndrome.
Sources

Pathways for Brugada Syndrome

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Pathways related to Brugada Syndrome according to KEGG:

37
# 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 23)
# Super pathways Score Top Affiliating Genes
1
Activation of cAMP-Dependent PKA 64
Show member pathways
 13.44 CACNA1C CACNA2D1 CACNB2 CALM2 SCN10A SCN1B
2
Developmental Biology 66
Show member pathways
 13.39 CACNA1C CACNB2 CALM2 PKP2 SCN10A SCN1B
3
Aldosterone synthesis and secretion 37
Show member pathways
 12.92 CACNA1C CACNA2D1 CACNB2 CALM2 SCN1B SCN5A
4
G-Beta Gamma Signaling 64
Show member pathways
 12.89 CACNA1C CACNA2D1 CACNB2 CALM2 SCN10A SCN1B
5
Transmission across Chemical Synapses 66
Show member pathways
 12.86 ABCC9 CACNA2D1 CACNB2 CALM2 HCN4 KCND3
6
Cardiac conduction 66
Show member pathways
 12.73 ABCC9 CACNA1C CACNA2D1 CACNB2 CALM2 KCND3
7
Vascular smooth muscle contraction 37
Show member pathways
 12.6 CACNA1C CACNA2D1 CACNB2 CALM2 KCNJ8
8
Neuropathic Pain-Signaling in Dorsal Horn Neurons 64
Show member pathways
 12.56 CACNA2D1 SCN10A SCN1B SCN2B SCN3B SCN5A
9
Neuroscience 4
12.44 SCN10A SCN1B SCN2B SCN5A
10
BMP Pathway 64
Show member pathways
 12.36 CACNA1C CACNA2D1 CACNB2 CALM2
11
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 37
Show member pathways
 12.3 CACNA1C CACNA2D1 CACNB2 PKP2
12
Dopamine-DARPP32 Feedback onto cAMP Pathway 64
12.22 CACNA1C CACNB2 CALM2 KCND3 KCNE3 KCNH2
13
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 12.2 CACNA1C CACNA2D1 CACNB2 CALM2
14
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.09 GPD1L KCNH2 KCNJ8 SCN3B SCN5A
15
Potassium Channels 66
Show member pathways
 12.02 ABCC9 HCN4 KCND3 KCNH2 KCNJ8
16
L1CAM interactions 66
Show member pathways
 11.93 SCN10A SCN1B SCN2B SCN3B SCN5A
17
Fc-GammaR Pathway 64
Show member pathways
 11.9 CACNA1C CACNA2D1 CACNB2
18
Cardiac muscle contraction 37
11.65 CACNA1C CACNA2D1 CACNB2
19
Antiarrhythmic Pathway, Pharmacodynamics 61
11.52 ABCC9 CACNA1C CACNB2 HCN4 KCND3 KCNE3
20
Celecoxib Pathway, Pharmacodynamics 61
11.5 CACNA1C CACNA2D1 CACNB2
21
Netrin Signaling 64
11.41 CACNA1C CACNA2D1 CACNB2
22
Phase 0 - rapid depolarisation 66
Show member pathways
 11.24 CACNA1C CACNA2D1 CACNB2 CALM2 KCNE3 KCNE5
23
Interaction between L1 and Ankyrins 66
11.13 SCN10A SCN1B SCN2B SCN3B SCN5A
Sources

GO Terms for Brugada Syndrome

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.73 ABCC9 CACNB2 KCND3 KCNJ8 SCN5A SLMAP
2 Z disc GO:0030018 9.7 CACNA1C SCN3B SCN5A
3 intercalated disc GO:0014704 9.67 PKP2 SCN1B SCN5A
4 T-tubule GO:0030315 9.65 CACNA2D1 SCN1B SCN5A
5 voltage-gated potassium channel complex GO:0008076 9.63 ABCC9 KCND3 KCNE3 KCNE5 KCNH2 KCNJ8
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 9.54 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 10.36 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 58)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.99 CACNA1C CACNA2D1 CACNB2 TRPM4
2 calcium ion transmembrane transport GO:0070588 9.98 CACNA1C CACNA2D1 CACNB2 TRPM4
3 protein localization to plasma membrane GO:0072659 9.98 CACNB2 PKP2 SCN3B SLMAP
4 regulation of ion transmembrane transport GO:0034765 9.97 CACNA1C CACNA2D1 CACNB2 HCN4 KCND3 KCNE3
5 regulation of heart rate GO:0002027 9.95 CALM2 GPD1L HCN4 SCN10A SCN5A
6 cardiac muscle contraction GO:0060048 9.93 KCNE5 KCNH2 SCN1B SCN2B SCN3B SCN5A
7 membrane depolarization during action potential GO:0086010 9.92 CACNA1C KCNH2 SCN10A SCN3B SCN5A
8 regulation of membrane potential GO:0042391 9.9 HCN4 KCNH2 TRPM4
9 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.89 CACNA2D1 KCNE5 KCNH2 SCN1B SCN5A
10 regulation of sodium ion transmembrane transporter activity GO:2000649 9.88 GPD1L SCN1B SCN2B SCN3B
11 positive regulation of sodium ion transport GO:0010765 9.88 GPD1L PKP2 SCN1B SCN3B SCN5A
12 ventricular cardiac muscle cell action potential GO:0086005 9.88 GPD1L KCNE5 KCNH2 PKP2 SCN3B SCN5A
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 9.83 CALM2 HCN4 SCN10A
16 regulation of potassium ion transmembrane transport GO:1901379 9.83 KCNE3 KCNE5 KCNH2
17 regulation of membrane repolarization GO:0060306 9.83 KCNE3 KCNE5 KCNH2
18 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.83 SCN10A SCN1B SCN2B SCN3B SCN5A
19 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.82 CACNA1C PKP2 TRPM4
20 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.82 KCND3 KCNE5 KCNH2
21 atrial cardiac muscle cell action potential GO:0086014 9.81 KCNE5 SCN3B SCN5A
22 potassium ion export GO:0071435 9.81 KCND3 KCNE5 KCNH2
23 membrane depolarization during AV node cell action potential GO:0086045 9.81 CACNA1C CACNB2 SCN5A TRPM4
24 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.8 GPD1L SCN3B SCN5A
25 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.8 KCND3 KCNH2 KCNJ8
26 SA node cell action potential GO:0086015 9.79 HCN4 SCN3B SCN5A
27 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.78 CACNA1C CACNB2 SCN5A
28 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.77 SCN1B SCN5A TRPM4
29 membrane depolarization during bundle of His cell action potential GO:0086048 9.77 CACNA2D1 SCN5A TRPM4
30 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.72 CACNA1C CALM2
31 positive regulation of heart rate GO:0010460 9.72 SCN3B TRPM4
32 positive regulation of potassium ion transmembrane transport GO:1901381 9.72 KCNE5 KCNH2
33 sodium ion import across plasma membrane GO:0098719 9.71 HCN4 TRPM4
34 calcium ion transport into cytosol GO:0060402 9.71 CACNA1C CACNA2D1
35 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.71 CACNA1C PKP2
36 membrane repolarization GO:0086009 9.71 KCND3 KCNH2
37 negative regulation of potassium ion transmembrane transport GO:1901380 9.71 KCNE5 KCNH2
38 potassium ion import across plasma membrane GO:1990573 9.7 HCN4 KCNJ8
39 regulation of sodium ion transmembrane transport GO:1902305 9.7 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 potassium ion export across plasma membrane GO:0097623 9.69 KCND3 KCNH2
43 response to pyrethroid GO:0046684 9.69 SCN1B SCN2B
44 AV node cell action potential GO:0086016 9.68 SCN10A SCN5A
45 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.68 CACNA2D1 CACNB2
46 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.67 CACNA1C CACNA2D1
47 bundle of His cell action potential GO:0086043 9.67 SCN10A SCN5A
48 cardiac conduction GO:0061337 9.61 CACNA1C CACNA2D1 CACNB2 KCND3 KCNH2 SCN1B
49 cardiac muscle cell action potential involved in contraction GO:0086002 9.17 CACNA1C CACNA2D1 PKP2 SCN1B SCN2B SCN3B
50 transmembrane transport GO:0055085 10.22 ABCC9 CACNA1C HCN4 KCND3 KCNH2 SCN10A

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

(show all 20)
# 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 calcium channel activity GO:0005262 9.83 CACNA1C CACNA2D1 CACNB2 TRPM4
4 voltage-gated potassium channel activity GO:0005249 9.83 HCN4 KCND3 KCNE3 KCNE5 KCNH2
5 sodium channel regulator activity GO:0017080 9.77 GPD1L PKP2 SCN1B SCN2B SCN3B
6 cation channel activity GO:0005261 9.75 CACNA1C SCN10A SCN5A
7 voltage-gated calcium channel activity GO:0005245 9.74 CACNA1C CACNA2D1 CACNB2
8 potassium channel regulator activity GO:0015459 9.73 ABCC9 KCNE3 KCNE5
9 voltage-gated sodium channel activity GO:0005248 9.73 HCN4 SCN10A SCN1B SCN2B SCN3B SCN5A
10 sodium channel activity GO:0005272 9.7 HCN4 SCN10A SCN1B SCN2B SCN3B SCN5A
11 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.69 KCND3 KCNH2 KCNJ8
12 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.67 KCND3 KCNE5 KCNH2
13 ion channel binding GO:0044325 9.65 ABCC9 CALM2 GPD1L KCND3 KCNE3 KCNE5
14 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.63 CACNA1C CACNA2D1 CACNB2
15 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.62 SCN1B SCN2B SCN3B SCN5A
16 inward rectifier potassium channel activity GO:0005242 9.59 KCNH2 KCNJ8
17 high voltage-gated calcium channel activity GO:0008331 9.58 CACNA1C CACNB2
18 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.55 CACNA1C CACNB2
19 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.54 SCN1B SCN5A
20 voltage-gated ion channel activity GO:0005244 9.32 CACNA1C HCN4 KCND3 KCNH2 KCNJ8 SCN10A
Sources

Sources for Brugada Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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