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 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
Sudden Unexplained Death 30 6
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
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 Procainamide and Ajmaline 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 126)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 2 34.7 GPD1L SCN5A
2 brugada syndrome 1 34.6 KCNH2 KCNJ8 SCN5A
3 brugada syndrome 5 34.5 SCN1B SCN5A
4 ventricular fibrillation, paroxysmal familial, 1 33.0 CACNA1C KCNH2 SCN5A
5 atrial fibrillation 31.3 ABCC9 HCN4 KCNH2 SCN1B SCN2B SCN3B
6 sick sinus syndrome 31.1 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 short qt syndrome 30.7 CACNA1C CACNA2D1 CACNB2 KCNH2 TRPM4
12 long qt syndrome 30.5 CACNA1C CACNB2 CALM2 GPD1L HCN4 KCND3
13 catecholaminergic polymorphic ventricular tachycardia 30.5 CALM2 KCNH2 SCN5A
14 sudden infant death syndrome 30.5 GPD1L KCNH2 KCNJ8 SCN2B SCN3B SCN5A
15 cardiac arrhythmia 30.4 CACNA1C KCNH2 SCN5A
16 coronary artery vasospasm 30.4 ABCC9 KCNJ8
17 atrioventricular block 30.4 HCN4 KCNH2 SCN5A TRPM4
18 atrial standstill 1 30.3 PKP2 SCN1B SCN5A
19 brugada syndrome 3 12.6
20 brugada syndrome 4 12.5
21 brugada syndrome 6 12.5
22 brugada syndrome 8 12.5
23 brugada syndrome 9 12.5
24 brugada syndrome 7 12.4
25 sudden arrhythmia death syndrome 11.3
26 epileptic encephalopathy, early infantile, 13 11.2
27 syncope 10.6
28 familial sick sinus syndrome 10.5 HCN4 SCN5A
29 familial progressive cardiac conduction defect 10.5 SCN1B SCN5A TRPM4
30 jervell and lange-nielsen syndrome 1 10.5 CACNA1C KCNH2 SCN5A
31 progressive familial heart block 10.5 SCN1B SCN5A TRPM4
32 cardiac conduction defect 10.5
33 long qt syndrome 6 10.5 CACNA1C KCNH2 SCN5A
34 hypokalemic periodic paralysis, type 1 10.5 CACNA1C KCNE3 KCNE5
35 timothy syndrome 10.5 CACNA1C CACNA2D1 CACNB2 KCNH2
36 heart conduction disease 10.5 HCN4 KCND3 KCNH2 SCN5A
37 cantu syndrome 10.5 ABCC9 CACNA1C KCNJ8
38 intrinsic cardiomyopathy 10.4 KCNH2 PKP2 SCN5A
39 familial short qt syndrome 10.4 CACNA2D1 KCNH2
40 refractory anemia 10.4
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 10.2 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
Procainamide Approved Phase 4 51-06-9 4913
2
Ajmaline Approved, Experimental 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 Lorajmine Phase 4,Phase 2,Not Applicable
5 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
6 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1,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 Potassium Channel Blockers Phase 3
10 Peripheral Nervous System Agents Phase 3,Not Applicable
11 Neuromuscular Agents Phase 3
12 Adrenergic Antagonists Phase 2, Phase 3,Phase 3
13 Cytochrome P-450 Enzyme Inhibitors Phase 2, Phase 3,Phase 3
14 Cholinergic Agents Phase 2, Phase 3,Phase 3
15 Cholinergic Antagonists Phase 2, Phase 3,Phase 3
16 Anti-Infective Agents Phase 2, Phase 3,Phase 3
17 Antimalarials Phase 2, Phase 3,Phase 3
18 Neurotransmitter Agents Phase 2, Phase 3,Phase 3,Not Applicable
19 Hydroquinidine Phase 2, Phase 3,Phase 3
20 Antiprotozoal Agents Phase 2, Phase 3,Phase 3
21 Antiparasitic Agents Phase 2, Phase 3,Phase 3
22 Cytochrome P-450 CYP2D6 Inhibitors Phase 2, Phase 3,Phase 3
23 Adrenergic alpha-Antagonists Phase 2, Phase 3,Phase 3
24 Quinidine gluconate Phase 2, Phase 3,Phase 3,Not Applicable
25 Adrenergic Agents Phase 2, Phase 3,Phase 3,Not Applicable
26 Muscarinic Antagonists Phase 2, Phase 3,Phase 3
27 Autonomic Agents Phase 3,Not Applicable
28 Parasympatholytics Phase 3
29
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
30
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
31
Racepinephrine Approved Not Applicable 329-65-7 838
32 Anesthetics Not Applicable
33 Bronchodilator Agents Not Applicable
34 Respiratory System Agents Not Applicable
35 Epinephryl borate Not Applicable
36 Adrenergic alpha-Agonists Not Applicable
37 Vasoconstrictor Agents Not Applicable
38 Adrenergic Agonists Not Applicable
39 Anti-Asthmatic Agents Not Applicable
40 Anesthetics, Local Not Applicable
41 Sympathomimetics Not Applicable
42 Central Nervous System Depressants Not Applicable
43 Adrenergic beta-Agonists Not Applicable
44 Mydriatics 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 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Completed NCT02302274 Phase 1, Phase 2 flecainide iv
6 The Response To Ajmaline Provocation in Healthy Subjects Recruiting NCT02933437 Phase 2 Ajmaline
7 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
8 Rhythmic Risk of Type 1 Brugada Syndrome and Pulmonary Infundibulum Mapping Not yet recruiting NCT03572881 Not Applicable
9 AnalyST & Brugada Syndrome - Feasibility Study Completed NCT02052765 Not Applicable
10 The Brugada Syndrome: a Follow-up Study Recruiting NCT03485508
11 Ripple Mapping for Epicardial Mapping of Brugada Syndrome Recruiting NCT03435393
12 Ablation in Brugada Syndrome for the Prevention of VF Recruiting NCT02704416 Not Applicable
13 Epicardial Ablation in Brugada Syndrome Completed NCT02641431 Not Applicable Ajmaline
14 Right Ventricle Morphology and Hemodynamics in BrS Recruiting NCT03524079 Ajmaline 17-(Chloroacetate) Monohydrochloride
15 Evaluation of Subcutaneous Implantable Cardiac Defibrillator in Brugada Patients Recruiting NCT02344277
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 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450
20 VF Mapping in Brugada and Early Repolarization Syndromes Recruiting NCT03764592
21 Worm Study: Modifier Genes in Sudden Cardiac Death Recruiting NCT02014961 Not Applicable
22 Sudden Unexplained Death in Childhood (SUDC) Registry Recruiting NCT03109197
23 China Inherited Ventricular Arrhythmias Registry Recruiting NCT03880708
24 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Completed NCT03182777 Not Applicable
25 Efficacy of Transcatheter Ablation Using Anatomic Approach of Ganglionated Plexi Located in the Right Atrium to Prevent Neuromediated Cardioinhibitory Syncope Recruiting NCT01814228 Not Applicable
26 Investigating Hereditary Cardiac Disease by Reprogramming Skin Cells to Heart Muscle Active, not recruiting NCT01865981
27 Fetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
28 Registry of Unexplained Cardiac Arrest Recruiting NCT00292032

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
2 Sudden Unexplained Death 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 1621)
# 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
Ablation of atrial fibrillation in patients with Brugada syndrome: A systematic review of the literature. ( 30805040 )
2019
3
Multiple serial ECGs aid with the diagnosis and prognosis of Brugada syndrome. ( 30195842 )
2019
4
Lack of influence of sex hormones on Brugada syndrome-associated mutant Nav1.5 sodium channel. ( 30476647 )
2019
5
Prevalence of spontaneous type I ECG pattern, syncope, and other risk markers in sudden cardiac arrest survivors with Brugada syndrome. ( 30569504 )
2019
6
Sudden cardiac arrest and Brugada syndrome: The search is on for better risk stratification. ( 30569570 )
2019
7
Brugada Syndrome: a challenge for the anesthesiologists. ( 30621381 )
2019
8
Clinical and Electrocardiographic Differences in Brugada Syndrome With Spontaneous or Drug-Induced Type 1 Electrocardiogram. ( 30643106 )
2019
9
Gender Difference in Clinical and Genetic Characteristics of Brugada Syndrome: SADS-TW BrS Registry. ( 30690642 )
2019
10
Electrocardiographic changes in STEMI with Brugada syndrome. ( 30693844 )
2019
11
Meta-Analysis of Clinical Outcome After Implantable Cardioverter-Defibrillator Implantation in Patients With Brugada Syndrome. ( 30784682 )
2019
12
Implantable Cardioverter-Defibrillator Therapy in Brugada Syndrome: Looking for Light at the End of the Tunnel. ( 30784683 )
2019
13
Ajmaline infusion during automated screening in Brugada syndrome and spontaneous Type 1 electrocardiogram unmasks non-suitability for subcutaneous implantable cardioverter-defibrillator. ( 30793741 )
2019
14
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome. ( 30821013 )
2019
15
SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis. ( 30828344 )
2019
16
Meta-Analysis of Risk Stratification of SCN5A With Brugada Syndrome: Is SCN5A Always a Marker of Low Risk? ( 30837887 )
2019
17
Anaesthetic management of C-section in Brugada syndrome: When less is more. ( 30862400 )
2019
18
Brugada Syndrome Caused by Autonomic Dysfunction in Multiple Sclerosis. ( 30881703 )
2019
19
Myocardial Inflammation in Brugada Syndrome. ( 30898219 )
2019
20
Reply: Myocardial Inflammation in Brugada Syndrome. ( 30898220 )
2019
21
Programmed Ventricular Stimulation in the Management of Brugada Syndrome Patients. ( 30916183 )
2019
22
Familial Brugada Syndrome Associated With a Complete Deletion of the SCN5A and SCN10A Genes. ( 29650450 )
2019
23
Risk Stratification in Brugada Syndrome: Current Status and Emerging Approaches. ( 29967678 )
2018
24
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
25
Progression of ECG abnormalities Associated with Initial Ventricular Fibrillation in Asymptomatic Patients with Brugada Syndrome. ( 29953954 )
2018
26
Brugada syndrome and sinus node dysfunction. ( 29951135 )
2018
27
Intramural clefts and structural discontinuities in Brugada syndrome: the missing gap? ( 29390049 )
2018
28
Tramadol use in a patient with Brugada syndrome and morphine allergy: a case report. ( 29391825 )
2018
29
Pharmacological Therapy in Brugada Syndrome. ( 29967687 )
2018
30
Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome. ( 29959160 )
2018
31
Integration of "Omics" Strategies for Biomarkers Discovery and for the Elucidation of Molecular Mechanisms Underlying Brugada Syndrome. ( 29956481 )
2018
32
High risk electrocardiographic markers in Brugada syndrome. ( 29876505 )
2018
33
Sodium channel blockers in Brugada syndrome. ( 29878207 )
2018
34
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
35
Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, andA Cardiomyopathy. ( 29798782 )
2018
36
Right Ventricular Outflow Tract Electroanatomical Abnormalities Predict Ventricular Fibrillation Inducibility in Brugada Syndrome. ( 29437762 )
2018
37
Worldwide Prevalence of Brugada Syndrome: A Systematic Review and Meta-Analysis. ( 29844648 )
2018
38
Reappraisal of the Worldwide Prevalence of Brugada Syndrome and Brugada Phenotype: From the Old to the New Diagnostic Criteria. ( 29844649 )
2018
39
Brugada syndrome in patients with acute febrile illness. ( 29961460 )
2018
40
Concomitant Brugada syndrome substrate ablation and epicardial abdominal cardioverter-defibrillator implantation in a child. ( 29928586 )
2018
41
Concealed abnormal atrial phenotype in patients with Brugada syndrome and no history of atrial fibrillation. ( 29306474 )
2018
42
Feasibility of drugs in Brugada syndrome. ( 29360969 )
2018
43
Performance of electrophysiologic study in an asymptomatic patient with type 2 intermittent Brugada syndrome: To do or not to do. ( 29387326 )
2018
44
Pediatric Brugada Syndrome: Avoiding the Inappropriate ICD. ( 29325639 )
2018
45
Shanghai Score System for Diagnosis of Brugada Syndrome: Validation of the Score System and System and Reclassification of the Patients. ( 29929664 )
2018
46
Brugada Syndrome: Let's Talk About Sex. ( 29981479 )
2018
47
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
48
Brugada syndrome in a 4-year-old child with Lemierre syndrome-A case report. ( 29910587 )
2018
49
Cohort of Patients Referred for Brugada Syndrome Investigation in an Electrophysiology Service - 19-Year Registry. ( 29898017 )
2018
50
Right bundle branch block and conduction disturbances in Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy. ( 29804172 )
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 KCNJ8 NM_004982.3(KCNJ8): c.1265C> T (p.Ser422Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72554071 GRCh38 Chromosome 12, 21765733: 21765733
2 KCNJ8 NM_004982.3(KCNJ8): c.1265C> T (p.Ser422Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72554071 GRCh37 Chromosome 12, 21918667: 21918667
3 CACNB2 NM_000724.3(CACNB2): c.425C> T (p.Ser142Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150528041 GRCh37 Chromosome 10, 18789874: 18789874
4 CACNB2 NM_000724.3(CACNB2): c.425C> T (p.Ser142Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150528041 GRCh38 Chromosome 10, 18500945: 18500945
5 CACNB2 NM_000724.3(CACNB2): c.1015G> A (p.Val339Ile) single nucleotide variant Uncertain significance rs149793143 GRCh37 Chromosome 10, 18823130: 18823130
6 CACNB2 NM_000724.3(CACNB2): c.1015G> A (p.Val339Ile) single nucleotide variant Uncertain significance rs149793143 GRCh38 Chromosome 10, 18534201: 18534201
7 CACNB2 NM_000724.3(CACNB2): c.1346C> T (p.Thr449Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143326262 GRCh37 Chromosome 10, 18828181: 18828181
8 CACNB2 NM_000724.3(CACNB2): c.1346C> T (p.Thr449Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143326262 GRCh38 Chromosome 10, 18539252: 18539252
9 CACNB2 NM_000724.3(CACNB2): c.1611C> A (p.Asp537Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs144182966 GRCh37 Chromosome 10, 18828446: 18828446
10 CACNB2 NM_000724.3(CACNB2): c.1611C> A (p.Asp537Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs144182966 GRCh38 Chromosome 10, 18539517: 18539517
11 SCN5A NM_000335.4(SCN5A): c.612-2A> G single nucleotide variant Likely pathogenic rs370438420 GRCh37 Chromosome 3, 38655327: 38655327
12 SCN5A NM_000335.4(SCN5A): c.612-2A> G single nucleotide variant Likely pathogenic rs370438420 GRCh38 Chromosome 3, 38613836: 38613836
13 SCN5A NM_198056.2(SCN5A): c.255delC (p.Phe86Serfs) deletion Likely pathogenic rs727503411 GRCh37 Chromosome 3, 38674544: 38674544
14 SCN5A NM_198056.2(SCN5A): c.5786G> A (p.Arg1929His) single nucleotide variant Uncertain significance rs727504822 GRCh38 Chromosome 3, 38550586: 38550586
15 SCN5A NM_198056.2(SCN5A): c.5786G> A (p.Arg1929His) single nucleotide variant Uncertain significance rs727504822 GRCh37 Chromosome 3, 38592077: 38592077
16 SCN5A NM_198056.2(SCN5A): c.5481C> T (p.Ile1827=) single nucleotide variant Likely benign rs138892850 GRCh37 Chromosome 3, 38592382: 38592382
17 SCN5A NM_198056.2(SCN5A): c.5481C> T (p.Ile1827=) single nucleotide variant Likely benign rs138892850 GRCh38 Chromosome 3, 38550891: 38550891
18 SCN5A NM_198056.2(SCN5A): c.5202C> T (p.Asn1734=) single nucleotide variant Benign/Likely benign rs368980118 GRCh37 Chromosome 3, 38592661: 38592661
19 SCN5A NM_198056.2(SCN5A): c.5202C> T (p.Asn1734=) single nucleotide variant Benign/Likely benign rs368980118 GRCh38 Chromosome 3, 38551170: 38551170
20 SCN5A NM_198056.2(SCN5A): c.4282G> T (p.Ala1428Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200034939 GRCh38 Chromosome 3, 38557248: 38557248
21 SCN5A NM_198056.2(SCN5A): c.4282G> T (p.Ala1428Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200034939 GRCh37 Chromosome 3, 38598739: 38598739
22 SCN5A NM_198056.2(SCN5A): c.3666+10T> C single nucleotide variant Benign/Likely benign rs200656652 GRCh37 Chromosome 3, 38616778: 38616778
23 SCN5A NM_198056.2(SCN5A): c.3666+10T> C single nucleotide variant Benign/Likely benign rs200656652 GRCh38 Chromosome 3, 38575287: 38575287
24 SCN5A NM_198056.2(SCN5A): c.3411C> T (p.Ser1137=) single nucleotide variant Likely benign rs553231555 GRCh37 Chromosome 3, 38618252: 38618252
25 SCN5A NM_198056.2(SCN5A): c.3411C> T (p.Ser1137=) single nucleotide variant Likely benign rs553231555 GRCh38 Chromosome 3, 38576761: 38576761
26 SCN5A NM_198056.2(SCN5A): c.3262G> A (p.Ala1088Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs369704754 GRCh37 Chromosome 3, 38620953: 38620953
27 SCN5A NM_198056.2(SCN5A): c.3262G> A (p.Ala1088Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs369704754 GRCh38 Chromosome 3, 38579462: 38579462
28 SCN5A NM_198056.2(SCN5A): c.3207G> A (p.Thr1069=) single nucleotide variant Likely benign rs371686822 GRCh37 Chromosome 3, 38622443: 38622443
29 SCN5A NM_198056.2(SCN5A): c.3207G> A (p.Thr1069=) single nucleotide variant Likely benign rs371686822 GRCh38 Chromosome 3, 38580952: 38580952
30 SCN5A NM_198056.2(SCN5A): c.1936delC (p.Gln646Argfs) deletion Pathogenic rs727505158 GRCh37 Chromosome 3, 38640496: 38640496
31 SCN5A NM_198056.2(SCN5A): c.1936delC (p.Gln646Argfs) deletion Pathogenic rs727505158 GRCh38 Chromosome 3, 38599005: 38599005
32 SCN5A NM_198056.2(SCN5A): c.1569T> A (p.Arg523=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313693 GRCh37 Chromosome 3, 38645524: 38645524
33 SCN5A NM_198056.2(SCN5A): c.1569T> A (p.Arg523=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313693 GRCh38 Chromosome 3, 38604033: 38604033
34 SCN5A NM_198056.2(SCN5A): c.486C> T (p.Tyr162=) single nucleotide variant Benign/Likely benign rs45489099 GRCh37 Chromosome 3, 38662459: 38662459
35 SCN5A NM_198056.2(SCN5A): c.486C> T (p.Tyr162=) single nucleotide variant Benign/Likely benign rs45489099 GRCh38 Chromosome 3, 38620968: 38620968
36 SCN5A NM_198056.2(SCN5A): c.255delC (p.Phe86Serfs) deletion Likely pathogenic rs727503411 GRCh38 Chromosome 3, 38633053: 38633053
37 SCN5A NM_198056.2(SCN5A): c.6003C> T (p.Leu2001=) single nucleotide variant Conflicting interpretations of pathogenicity rs538707712 GRCh37 Chromosome 3, 38591860: 38591860
38 SCN5A NM_198056.2(SCN5A): c.6003C> T (p.Leu2001=) single nucleotide variant Conflicting interpretations of pathogenicity rs538707712 GRCh38 Chromosome 3, 38550369: 38550369
39 SCN5A NM_198056.2(SCN5A): c.5374G> A (p.Asp1792Asn) single nucleotide variant Uncertain significance rs727504495 GRCh38 Chromosome 3, 38550998: 38550998
40 SCN5A NM_198056.2(SCN5A): c.5374G> A (p.Asp1792Asn) single nucleotide variant Uncertain significance rs727504495 GRCh37 Chromosome 3, 38592489: 38592489
41 SCN5A NM_198056.2(SCN5A): c.4824C> T (p.Leu1608=) single nucleotide variant Conflicting interpretations of pathogenicity rs45437099 GRCh37 Chromosome 3, 38593039: 38593039
42 SCN5A NM_198056.2(SCN5A): c.4824C> T (p.Leu1608=) single nucleotide variant Conflicting interpretations of pathogenicity rs45437099 GRCh38 Chromosome 3, 38551548: 38551548
43 SCN5A NM_198056.2(SCN5A): c.3995delC (p.Pro1332Argfs) deletion Pathogenic rs727504801 GRCh38 Chromosome 3, 38560397: 38560397
44 SCN5A NM_198056.2(SCN5A): c.3995delC (p.Pro1332Argfs) deletion Pathogenic rs727504801 GRCh37 Chromosome 3, 38601888: 38601888
45 SCN5A NM_198056.2(SCN5A): c.3378A> G (p.Pro1126=) single nucleotide variant Likely benign rs372328054 GRCh37 Chromosome 3, 38620837: 38620837
46 SCN5A NM_198056.2(SCN5A): c.3378A> G (p.Pro1126=) single nucleotide variant Likely benign rs372328054 GRCh38 Chromosome 3, 38579346: 38579346
47 SCN5A NM_198056.2(SCN5A): c.3249C> T (p.Ser1083=) single nucleotide variant Benign/Likely benign rs111422496 GRCh37 Chromosome 3, 38620966: 38620966
48 SCN5A NM_198056.2(SCN5A): c.3249C> T (p.Ser1083=) single nucleotide variant Benign/Likely benign rs111422496 GRCh38 Chromosome 3, 38579475: 38579475
49 SCN5A NM_198056.2(SCN5A): c.1891-8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs12720064 GRCh37 Chromosome 3, 38640549: 38640549
50 SCN5A NM_198056.2(SCN5A): c.1891-8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs12720064 GRCh38 Chromosome 3, 38599058: 38599058

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
12.94 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 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 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
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