SUDS
MCID: BRG001
MIFTS: 62

Brugada Syndrome (SUDS)

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 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:



External Ids:

Disease Ontology 12 DOID:0050451
ICD10 33 I49.8
MeSH 44 D053840
Orphanet 59 ORPHA130
MESH via Orphanet 45 D053840
UMLS via Orphanet 74 C1142166 C1955837
ICD10 via Orphanet 34 I49.8
KEGG 37 H00728

Summaries for Brugada Syndrome

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 Ajmaline and Procainamide have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related phenotypes are Decreased viability and Decreased viability

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 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 117)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 2 34.3 GPD1L SCN5A
2 brugada syndrome 1 34.3 KCNH2 KCNJ8 SCN5A
3 brugada syndrome 5 34.2 SCN1B SCN5A
4 ventricular fibrillation, paroxysmal familial, 1 32.7 CACNA1C KCNH2 SCN5A
5 atrial fibrillation 31.0 ABCC9 HCN4 KCNH2 SCN1B SCN2B SCN3B
6 right bundle branch block 30.8 CACNA1C CACNB2 GPD1L HCN4 KCND3 SCN1B
7 cardiac arrest 30.8 CACNB2 CALM2 KCNH2 SCN5A
8 arrhythmogenic right ventricular cardiomyopathy 30.8 HCN4 KCNH2 PKP2 SCN5A
9 sick sinus syndrome 30.8 CACNA1C HCN4 SCN5A
10 heart disease 30.7 CACNA1C HCN4 KCNH2 PKP2 SCN5A
11 long qt syndrome 30.6 CACNA1C CACNB2 CALM2 GPD1L HCN4 KCND3
12 short qt syndrome 30.5 CACNA1C CACNA2D1 CACNB2 KCNH2 TRPM4
13 catecholaminergic polymorphic ventricular tachycardia 30.4 CALM2 KCNH2 SCN5A TRPM4
14 sudden infant death syndrome 30.3 GPD1L KCNH2 KCNJ8 SCN2B SCN3B SCN5A
15 coronary artery vasospasm 30.3 ABCC9 KCNJ8
16 cardiac arrhythmia 30.2 CACNA1C KCNH2 SCN5A
17 atrioventricular block 30.1 HCN4 KCNH2 SCN5A TRPM4
18 brugada syndrome 3 12.6
19 brugada syndrome 4 12.5
20 brugada syndrome 6 12.5
21 brugada syndrome 8 12.5
22 brugada syndrome 9 12.4
23 brugada syndrome 7 12.4
24 sudden arrhythmia death syndrome 11.3
25 central hypoventilation syndrome, congenital 11.1
26 epileptic encephalopathy, early infantile, 13 11.1
27 syncope 10.5
28 progressive familial heart block, type ia 10.4
29 progressive familial heart block, type ib 10.4
30 cardiac conduction defect 10.4
31 familial progressive cardiac conduction defect 10.3 SCN1B SCN5A TRPM4
32 familial sick sinus syndrome 10.3 HCN4 SCN5A
33 progressive familial heart block 10.3 SCN1B SCN5A TRPM4
34 jervell and lange-nielsen syndrome 1 10.3 CACNA1C KCNH2 SCN5A
35 long qt syndrome 6 10.3 CACNA1C KCNH2 SCN5A
36 timothy syndrome 10.3 CACNA1C CACNA2D1 CACNB2 KCNH2
37 hypokalemic periodic paralysis, type 1 10.3 CACNA1C KCNE3 KCNE5
38 heart conduction disease 10.3 HCN4 KCND3 KCNH2 SCN5A
39 cantu syndrome 10.3 ABCC9 CACNA1C KCNJ8
40 early repolarization associated with ventricular fibrillation 10.3
41 familial short qt syndrome 10.3 CACNA2D1 KCNH2
42 intrinsic cardiomyopathy 10.3 KCNH2 PKP2 SCN5A
43 long qt syndrome 13 10.3 KCNH2 SCN5A
44 atrial standstill 1 10.3 PKP2 SCN1B SCN5A
45 long qt syndrome 12 10.3 KCNH2 SCN5A
46 third-degree atrioventricular block 10.2 HCN4 SCN5A
47 cardiomyopathy, dilated, 1o 10.2 ABCC9 KCNJ8
48 ischemia 10.2
49 dilated cardiomyopathy 10.2 ABCC9 CACNA1C CACNB2 KCNH2 PKP2 SCN5A
50 wolff-parkinson-white syndrome 10.2

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.05 CALM2
2 Decreased viability GR00221-A-1 10.05 CALM2
3 Decreased viability GR00221-A-2 10.05 CALM2
4 Decreased viability GR00221-A-4 10.05 CALM2
5 Decreased viability GR00301-A 10.05 CALM2
6 Decreased viability GR00402-S-2 10.05 ABCC9 CACNA1C CACNA2D1 CACNB2 CALM2 GPD1L
7 no effect GR00402-S-1 9.62 ABCC9 CACNA1C CACNA2D1 CACNB2 CALM2 GPD1L

MGI Mouse Phenotypes related to Brugada Syndrome:

46
# 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 48)
# 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 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
4 Lorajmine Phase 4,Phase 2,Not Applicable
5 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1,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 Potassium Channel Blockers Phase 3
10 3,4-diaminopyridine Phase 3
11 Adrenergic Agents Phase 2, Phase 3,Phase 3,Not Applicable
12 Neurotransmitter Agents Phase 2, Phase 3,Phase 3,Not Applicable
13 Peripheral Nervous System Agents Phase 3,Not Applicable
14 Autonomic Agents Phase 3,Not Applicable
15 Quinidine gluconate Phase 2, Phase 3,Phase 3,Not Applicable
16 Antiparasitic Agents Phase 2, Phase 3,Phase 3
17 Adrenergic alpha-Antagonists Phase 2, Phase 3,Phase 3
18 Anti-Infective Agents Phase 2, Phase 3,Phase 3
19 Cholinergic Agents Phase 2, Phase 3,Phase 3
20 Adrenergic Antagonists Phase 2, Phase 3,Phase 3
21 Cholinergic Antagonists Phase 2, Phase 3,Phase 3
22 Hydroquinidine Phase 2, Phase 3,Phase 3
23 Muscarinic Antagonists Phase 2, Phase 3,Phase 3
24 Cytochrome P-450 Enzyme Inhibitors Phase 2, Phase 3,Phase 3
25 Antiprotozoal Agents Phase 2, Phase 3,Phase 3
26 Antimalarials Phase 2, Phase 3,Phase 3
27 Cytochrome P-450 CYP2D6 Inhibitors Phase 2, Phase 3,Phase 3
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 Immunologic Factors
33 Antibodies
34 Antibodies, Antinuclear
35 Immunoglobulins
36 Anesthetics Not Applicable
37 Anti-Asthmatic Agents Not Applicable
38 Mydriatics Not Applicable
39 Adrenergic beta-Agonists Not Applicable
40 Anesthetics, Local Not Applicable
41 Epinephryl borate Not Applicable
42 Central Nervous System Depressants Not Applicable
43 Adrenergic alpha-Agonists Not Applicable
44 Bronchodilator Agents Not Applicable
45 Vasoconstrictor Agents Not Applicable
46 Sympathomimetics Not Applicable
47 Adrenergic Agonists Not Applicable
48 Respiratory System Agents Not Applicable

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 Syncope: Pacing or Recording in the Later Years Unknown status NCT01423994 Phase 4
2 Ajmaline Utilization in the Diagnosis and Treatment of Cardiac Arrhythmias Completed NCT00702117 Phase 4 flecainide;ajmaline;procainamide
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 Active, not 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 Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms Unknown status NCT02881671
9 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
10 Systemic Lupus Erythematous and Heart Conduction Disorders Unknown status NCT02162992
11 Cohort Description of Younger With AV-block Unknown status NCT03024047
12 AnalyST & Brugada Syndrome - Feasibility Study Completed NCT02052765 Not Applicable
13 Epicardial Ablation in Brugada Syndrome Completed NCT02641431 Not Applicable Ajmaline
14 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Completed NCT03182777 Not Applicable
15 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum Completed NCT01609738
16 The Brugada Syndrome: a Follow-up Study Recruiting NCT03485508
17 Ripple Mapping for Epicardial Mapping of Brugada Syndrome Recruiting NCT03435393
18 Ablation in Brugada Syndrome for the Prevention of VF Recruiting NCT02704416 Not Applicable
19 Right Ventricle Morphology and Hemodynamics in BrS Recruiting NCT03524079 Ajmaline 17-(Chloroacetate) Monohydrochloride
20 Evaluation of Subcutaneous Implantable Cardiac Defibrillator in Brugada Patients Recruiting NCT02344277
21 Epicardial Ablation in Brugada Syndrome. An Extension Study of 500 BrS.Patients Recruiting NCT03106701 Not Applicable
22 Epicardial Ablation in Brugada Syndrome to Prevent Sudden Death Recruiting NCT03294278 Not Applicable
23 Echocardiography During Ajmaline Test Recruiting NCT03491475 Ajmaline test
24 VF Mapping in Brugada and Early Repolarization Syndromes Recruiting NCT03764592
25 Worm Study: Modifier Genes in Sudden Cardiac Death Recruiting NCT02014961 Not Applicable
26 Sudden Unexplained Death in Childhood (SUDC) Registry Recruiting NCT03109197
27 Efficacy of Transcatheter Ablation Using Anatomic Approach of Ganglionated Plexi Located in the Right Atrium to Prevent Neuromediated Cardioinhibitory Syncope Recruiting NCT01814228 Not Applicable
28 Fetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
29 Registry of Unexplained Cardiac Arrest Recruiting NCT00292032
30 Investigating Hereditary Cardiac Disease by Reprogramming Skin Cells to Heart Muscle Active, not recruiting NCT01865981
31 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450
32 Rhythmic Risk of Type 1 Brugada Syndrome and Pulmonary Infundibulum Mapping Not yet recruiting NCT03572881 Not Applicable
33 A Psychoeducational Intervention Supporting Patients With an Inherited Cardiac Condition Not yet recruiting NCT03602040 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 29
2 Sudden Unexplained Death 29

Anatomical Context for Brugada Syndrome

MalaCards organs/tissues related to Brugada Syndrome:

41
Heart, Testes, Brain, Smooth Muscle, Myeloid, Lung, Temporal Lobe

Publications for Brugada Syndrome

Articles related to Brugada Syndrome:

(show top 50) (show all 1200)
# 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
Deletion in mice of X-linked, Brugada syndrome- and atrial fibrillation-associated Kcne5 augments ventricular KV currents and predisposes to ventricular arrhythmia. ( 30289750 )
2018
30
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 )
2018
31
Sex Differences in Autonomic Response to Exercise Testing in Patients with Brugada Syndrome. ( 30051385 )
2018
32
Cardiac arrest during spinal anaesthesia in a patient with undiagnosed Brugada syndrome. ( 30063532 )
2018
33
General Anesthesia Attenuates Brugada Syndrome Phenotype Expression: Clinical Implications From a Prospective Clinical Trial. ( 30067493 )
2018
34
Brugada syndrome and undifferentiated syncope: use of an implantable loop recorder to document causation. ( 30071813 )
2018
35
Cohort of Patients Referred for Brugada Syndrome Investigation in an Electrophysiology Service - 19-Year Registry. ( 30110041 )
2018
36
Brugada Syndrome: The Role of Risk Stratification in Selecting Patients for Implantable Cardioverter-defibrillator Placement. ( 30116678 )
2018
37
SCN5A mutation status increases the risk of major arrhythmic events in Asian populations with Brugada syndrome: systematic review and meta-analysis. ( 30126015 )
2018
38
Present Status of Brugada Syndrome: JACC State-of-the-Art Review. ( 30139433 )
2018
39
Calcium in Brugada Syndrome: Questions for Future Research. ( 30147658 )
2018
40
Development of monomorphic ventricular tachycardia in a patient with fever-induced Brugada syndrome. ( 30167021 )
2018
41
A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death. ( 30170230 )
2018
42
Clinical presentation and follow-up of women affected by Brugada syndrome. ( 30193851 )
2018
43
Multiple serial ECGs aid with the diagnosis and prognosis of Brugada syndrome. ( 30195842 )
2018
44
Systematic re-evaluation of SCN5A variants associated with Brugada syndrome. ( 30203441 )
2018
45
Multi-disciplinary approach to perioperative risk assessment and post-transplant management for liver transplantation in a patient at risk for Brugada syndrome. ( 30212282 )
2018
46
Gender difference in Brugada syndrome: Mirror images of long QT syndrome? ( 30217525 )
2018
47
New risk stratification on SCN5A mutation in Brugada syndrome. ( 30223345 )
2018
48
Brugada syndrome trafficking-defective Nav1.5 channels can trap cardiac Kir2.1/2.2 channels. ( 30232268 )
2018
49
Key Role of the Membrane Trafficking of Nav1.5 Channel Protein in Antidepressant-Induced Brugada Syndrome. ( 30233406 )
2018
50
Epicardial and Subsequent Endocardial Ablation in a Patient With Brugada Syndrome. ( 30236406 )
2018

Variations for Brugada Syndrome

ClinVar genetic disease variations for Brugada Syndrome:

6 (show top 50) (show all 3639)
# 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 rs137854601 GRCh37 Chromosome 3, 38592513: 38592513
19 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant 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 Uncertain significance rs137854617 GRCh37 Chromosome 3, 38622493: 38622493
49 SCN5A NM_198056.2(SCN5A): c.3157G> A (p.Glu1053Lys) single nucleotide variant Uncertain significance 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:

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 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
12.86 ABCC9 CACNA2D1 CACNB2 CALM2 HCN4 KCND3
5
Show member pathways
12.73 ABCC9 CACNA1C CACNA2D1 CACNB2 CALM2 KCND3
6
Show member pathways
12.67 CACNA1C CACNA2D1 CACNB2 CALM2 SCN1B SCN5A
7
Show member pathways
12.61 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 60)
# 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 9.99 CACNA1C CACNA2D1 CACNB2 TRPM4
3 regulation of ion transmembrane transport GO:0034765 9.97 CACNA1C CACNA2D1 CACNB2 HCN4 KCND3 KCNE3
4 cardiac muscle contraction GO:0060048 9.95 KCNE5 KCNH2 SCN1B SCN2B SCN3B SCN5A
5 regulation of heart rate GO:0002027 9.93 CALM2 GPD1L HCN4 SCN10A SCN5A
6 regulation of membrane potential GO:0042391 9.9 HCN4 KCNH2 TRPM4
7 regulation of sodium ion transmembrane transporter activity GO:2000649 9.9 GPD1L SCN1B SCN2B SCN3B
8 positive regulation of sodium ion transport GO:0010765 9.89 GPD1L PKP2 SCN1B SCN3B SCN5A
9 membrane depolarization during action potential GO:0086010 9.88 KCNH2 SCN10A SCN3B SCN5A
10 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.88 CACNA2D1 KCNE3 KCNE5 KCNH2 SCN1B SCN5A
11 potassium ion import across plasma membrane GO:1990573 9.87 ABCC9 HCN4 KCNJ8
12 potassium ion export across plasma membrane GO:0097623 9.86 KCND3 KCNE3 KCNE5 KCNH2
13 membrane depolarization GO:0051899 9.85 SCN1B SCN3B SCN5A
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 regulation of cardiac muscle contraction GO:0055117 9.84 CALM2 HCN4 SCN10A
18 regulation of potassium ion transmembrane transport GO:1901379 9.84 KCNE3 KCNE5 KCNH2
19 potassium ion export GO:0071435 9.83 KCND3 KCNE5 KCNH2
20 regulation of membrane repolarization GO:0060306 9.83 KCNE3 KCNE5 KCNH2
21 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.83 CACNA1C PKP2 TRPM4
22 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.83 SCN10A SCN1B SCN2B SCN3B SCN5A
23 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.82 KCND3 KCNE5 KCNH2
24 atrial cardiac muscle cell action potential GO:0086014 9.82 KCNE5 SCN3B SCN5A
25 membrane repolarization during action potential GO:0086011 9.81 KCNE3 KCNE5 KCNH2
26 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.81 GPD1L SCN3B SCN5A
27 membrane depolarization during AV node cell action potential GO:0086045 9.81 CACNA1C CACNB2 SCN5A TRPM4
28 SA node cell action potential GO:0086015 9.8 HCN4 SCN3B SCN5A
29 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.79 CACNA1C CACNB2 SCN5A
30 membrane depolarization during bundle of His cell action potential GO:0086048 9.79 CACNA2D1 SCN5A TRPM4
31 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.78 SCN1B SCN5A TRPM4
32 positive regulation of heart rate GO:0010460 9.73 SCN3B TRPM4
33 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.73 CACNA1C CALM2
34 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.72 KCNE3 KCNE5
35 positive regulation of potassium ion transmembrane transport GO:1901381 9.72 KCNE5 KCNH2
36 sodium ion import across plasma membrane GO:0098719 9.72 HCN4 TRPM4
37 calcium ion transport into cytosol GO:0060402 9.72 CACNA1C CACNA2D1
38 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.71 CACNA1C PKP2
39 membrane repolarization GO:0086009 9.71 KCND3 KCNH2
40 negative regulation of potassium ion transmembrane transport GO:1901380 9.71 KCNE5 KCNH2
41 regulation of sodium ion transmembrane transport GO:1902305 9.71 SCN5A SLMAP
42 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.71 KCNE5 SCN5A
43 membrane depolarization during SA node cell action potential GO:0086046 9.7 HCN4 SCN5A
44 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.7 CACNA2D1 CACNB2
45 AV node cell action potential GO:0086016 9.7 SCN10A SCN5A
46 response to pyrethroid GO:0046684 9.69 SCN1B SCN2B
47 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.68 CACNA1C CACNA2D1
48 bundle of His cell action potential GO:0086043 9.68 SCN10A SCN5A
49 negative regulation of potassium ion export across plasma membrane GO:1903765 9.67 KCNE3 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 sodium channel activity GO:0005272 9.7 HCN4 SCN10A SCN1B SCN2B SCN3B SCN5A
12 ion channel binding GO:0044325 9.7 ABCC9 CALM2 GPD1L KCND3 KCNE3 KCNE5
13 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.69 KCND3 KCNE5 KCNH2
14 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.67 SCN1B SCN2B SCN3B SCN5A
15 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.65 CACNA1C CACNA2D1 CACNB2
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 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
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