SUDS
MCID: BRG001
MIFTS: 59

Brugada Syndrome (SUDS) malady

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Brugada Syndrome

Aliases & Descriptions for Brugada Syndrome:

Name: Brugada Syndrome 12 23 50 24 25 56 29 52 42 14 69
Sudden Unexpected Nocturnal Death Syndrome 23 50 24 25 69
Sudden Unexplained Nocturnal Death Syndrome 12 56 69
Pokkuri Death Syndrome 12 25 56
Bangungut 12 25 56
Sunds 12 25 56
Idiopathic Ventricular Fibrillation, Brugada Type 25 56
Sudden Unexplained Death Syndrome 25 29
Dream Disease 12 56
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 50
Brugada Type Idiopathic Ventricular Fibrillation 12
Suds 25

Characteristics:

Orphanet epidemiological data:

56
brugada syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

GeneReviews:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:0050451
ICD10 33 I49.8
MeSH 42 D053840
NCIt 47 C71059
SNOMED-CT 64 418818005
Orphanet 56 ORPHA130
MESH via Orphanet 43 D053840
UMLS via Orphanet 70 C1142166
ICD10 via Orphanet 34 I49.8

Summaries for Brugada Syndrome

NIH Rare Diseases : 50 brugada syndrome is a heart condition that causes a disruption of the normal rhythm in the heart's lower chambers (ventricular arrhythmia). signs and symptoms usually develop in adulthood but the diagnosis may be made at any age. symptoms and complications often occur during rest or sleep, and may include fainting, seizures, difficulty breathing, or sudden death. brugada syndrome may be caused by a mutation in any of at least 16 genes (most commonly the scn5a gene) and is inherited in an autosomal dominant manner. an acquired (nongenetic) form has been associated with certain drugs; abnormally high blood levels of calcium or potassium; or very low levels of potassium. in some cases, the cause of brugada syndrome is unknown. treatment may include use of an implantable cardioverter defibrillator (icd). last updated: 3/16/2016

MalaCards based summary : Brugada Syndrome, also known as sudden unexpected nocturnal death syndrome, is related to brugada syndrome 2 and brugada syndrome 4. An important gene associated with Brugada Syndrome is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. The drugs Procainamide and Ajmaline have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and eye, and related phenotypes are cardiovascular system and nervous 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 : 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 : 71 Brugada syndrome (BrS) is a genetic disease that is characterised by abnormal electrocardiogram (ECG)... more...

GeneReviews: NBK1517

Related Diseases for Brugada Syndrome

Diseases in the Brugada Syndrome family:

Brugada Syndrome 9 Brugada Syndrome 2
Brugada Syndrome 1 Brugada Syndrome 4
Brugada Syndrome 6 Brugada Syndrome 7
Brugada Syndrome 3 Brugada Syndrome 8
Brugada Syndrome 5 Brugada Syndrome, Rangrf-Related
Scn5a-Related Brugada Syndrome

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

(show top 50) (show all 87)
id Related Disease Score Top Affiliating Genes
1 brugada syndrome 2 12.3
2 brugada syndrome 4 12.2
3 brugada syndrome 3 12.2
4 brugada syndrome 7 12.2
5 brugada syndrome 5 12.2
6 brugada syndrome 1 12.2
7 brugada syndrome 6 12.2
8 brugada syndrome 8 12.2
9 brugada syndrome 9 12.1
10 brugada syndrome, rangrf-related 11.7
11 scn5a-related brugada syndrome 11.7
12 sudden arrhythmia death syndrome 10.9
13 heart block, progressive, type ia 10.4 CACNA1C KCNE3 SCN5A
14 camurati-engelmann disease 10.4 SCN1B SCN5A
15 retinal cone dystrophy 4 10.3 CACNA1C CACNA2D1 CACNB2
16 developmental dysplasia of the hip 2 10.3 GPD1L SCN5A
17 fatal infantile encephalomyopathy 10.3 SCN1B SCN5A TRPM4
18 isolated encephalocele 10.3 CACNA1C KCNH2 SCN5A
19 combined oxidative phosphorylation deficiency 17 10.3 SCN1B SCN5A TRPM4
20 keppen-lubinsky syndrome 10.3 CACNA1C KCNH2 SCN5A
21 cerebral creatine deficiency syndrome 10.3 CACNA1C CACNA2D1 KCNH2
22 patel bixler syndrome 10.3 CACNA1C SCN5A
23 fanconi anemia complementation group r 10.3 SCN1B SCN5A TRPM4
24 sick sinus syndrome 1 10.3 CACNA1C KCNH2 SCN5A
25 short qt syndrome 2 10.3 CACNA1C KCNH2 SCN5A
26 squamous cell papilloma 10.3 HCN4 RANGRF SCN5A
27 familial periodic paralysis 10.3 HCN4 KCND3 KCNH2 SCN5A
28 micturation-induced seizures 10.3 HCN4 SCN5A
29 migraine with aura 9 10.3 KCNH2 SCN5A
30 hyperthyroxinemia 10.3 CACNA1C KCND3 KCNE3 KCNH2 SCN5A
31 lipodystrophy, familial partial, type 5 10.3 HCN4 SCN5A
32 long qt syndrome 10.3
33 third-degree atrioventricular block 10.3 HCN4 KCNH2 SCN5A TRPM4
34 multicentric carpotarsal osteolysis syndrome 10.2 KCNH2 SCN5A
35 atrial fibrillation 10.2
36 adams-oliver syndrome 10.2 HCN4 KCNH2 SCN1B SCN2B SCN3B SCN5A
37 atrial fibrillation, familial, 3 10.2 CACNA1C KCND3 KCNE3 KCNE5 KCNH2 SCN3B
38 fetal alcohol syndrome 10.2 KCNE3 KCNE5 KCNH2 SCN1B SCN2B SCN3B
39 right bundle branch block 10.2
40 atrial fibrillation, familial, 10 10.2 GPD1L KCNH2 KCNJ8 SCN1B SCN2B SCN3B
41 syncope 10.2
42 proximal renal tubular acidosis 10.1 CACNA2D1 KCNH2
43 cardiomyopathy 10.1
44 uterine fibroid 10.0 CACNA1C CACNB2 GPD1L HCN4 KCND3 SCN1B
45 heart disease 10.0
46 wolff-parkinson-white syndrome 10.0
47 cardiac arrest 10.0
48 hypokalemia 10.0
49 catecholaminergic polymorphic ventricular tachycardia 10.0
50 sick sinus syndrome 10.0

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



Diseases related to Brugada Syndrome

Symptoms & Phenotypes for Brugada Syndrome

MGI Mouse Phenotypes related to Brugada Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.77 CACNA1C CACNA2D1 CACNB2 HCN4 KCND3 KCNE3
2 nervous system MP:0003631 9.32 HCN4 KCNE3 SCN10A SCN1B SCN2B SCN5A

Drugs & Therapeutics for Brugada Syndrome

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

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Procainamide Approved Phase 4 51-06-9 4913
2
Ajmaline Approved, Nutraceutical Phase 4,Phase 2 4360-12-7 441080
3 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Phase 1
4 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1
5 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1
6 Lorajmine Phase 4,Phase 2
7
4-Aminopyridine Approved Phase 3 504-24-5 1727
8
Quinidine Approved Phase 2, Phase 3 56-54-2 441074
9 Potassium Channel Blockers Phase 3
10 3,4-diaminopyridine Phase 3
11 Muscarinic Antagonists Phase 2, Phase 3
12 Cholinergic Agents Phase 2, Phase 3
13 Cholinergic Antagonists Phase 2, Phase 3
14 Adrenergic Agents Phase 2, Phase 3
15 Adrenergic Antagonists Phase 2, Phase 3
16 Adrenergic alpha-Antagonists Phase 2, Phase 3
17 Neurotransmitter Agents Phase 2, Phase 3
18 Cytochrome P-450 CYP2D6 Inhibitors Phase 2, Phase 3
19 Cytochrome P-450 Enzyme Inhibitors Phase 2, Phase 3
20 Hydroquinidine Phase 2, Phase 3
21 Anti-Infective Agents Phase 2, Phase 3
22 Antimalarials Phase 2, Phase 3
23 Quinidine gluconate Phase 2, Phase 3
24 Antiparasitic Agents Phase 2, Phase 3
25 Antiprotozoal Agents Phase 2, Phase 3
26 Parasympatholytics Phase 3
27 Peripheral Nervous System Agents Phase 3
28 Autonomic Agents Phase 3
29 Anesthetics

Interventional clinical trials:

(show all 20)
id Name Status NCT ID Phase
1 Ajmaline Utilization in the Diagnosis and Treatment of Cardiac Arrhythmias Completed NCT00702117 Phase 4
2 DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome Unknown status NCT00701077 Phase 3
3 Empiric Quinidine for Asymptomatic Brugada Syndrome Recruiting NCT00789165 Phase 2, Phase 3
4 Efficacy of Transcatheter Ablation Using Anatomic Approach of Ganglionated Plexi Located in the Right Atrium to Prevent Neuromediated Cardioinhibitory Syncope Recruiting NCT01814228 Phase 3
5 Registry of Unexplained Cardiac Arrest Recruiting NCT00292032 Phase 3
6 Hydroquinidine Versus Placebo in Patients With Brugada Syndrome Terminated NCT00927732 Phase 3
7 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Recruiting NCT02302274 Phase 1, Phase 2
8 The Response To Ajmaline Provocation in Healthy Subjects Recruiting NCT02933437 Phase 2
9 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
10 AnalyST & Brugada Syndrome - Feasibility Study Completed NCT02052765
11 Epicardial Ablation in Brugada Syndrome Completed NCT02641431
12 Epicardial Ablation in Brugada Syndrome. An Extension Study of 200 BrS.Patients Recruiting NCT03106701
13 Evaluation of Subcutaneous Implantable Cardiac Defibrillator in Brugada Patients Recruiting NCT02344277
14 Worm Study: Modifier Genes in Sudden Cardiac Death Recruiting NCT02014961
15 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Recruiting NCT03182777
16 Sudden Unexplained Death in Childhood (SUDC) Registry Recruiting NCT03109197
17 Genetic Markers of Cardiovascular Disease in Epilepsy Recruiting NCT02824822
18 Investigating Hereditary Cardiac Disease by Reprogramming Skin Cells to Heart Muscle Active, not recruiting NCT01865981
19 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450
20 Ablation in Brugada Syndrome for the Prevention of VF Not yet recruiting NCT02704416

Search NIH Clinical Center for Brugada Syndrome

Cochrane evidence based reviews: brugada syndrome

Genetic Tests for Brugada Syndrome

Genetic tests related to Brugada Syndrome:

id Genetic test Affiliating Genes
1 Brugada Syndrome 29 24 SCN5A
2 Sudden Unexplained Death 29

Anatomical Context for Brugada Syndrome

MalaCards organs/tissues related to Brugada Syndrome:

39
Heart, Testes, Eye, Myeloid, Brain, Skeletal Muscle

Publications for Brugada Syndrome

Articles related to Brugada Syndrome:

(show top 50) (show all 737)
id Title Authors Year
1
A meta-analysis on the prognostic significance of inferolateral early repolarization pattern in Brugada syndrome. ( 28087596 )
2017
2
Early repolarization syndrome and Brugada syndrome: Similar or different? ( 27940004 )
2017
3
Outcomes of Brugada Syndrome Patients with Coronary Artery Vasospasm. ( 28090040 )
2017
4
Uneventful prolonged propofol infusion in a patient with Brugada syndrome. ( 28072945 )
2017
5
Atrial fibrillation associated with Wolff-Parkinson-White syndrome in a patient with concomitant Brugada syndrome. ( 28491758 )
2017
6
A novel method to enhance phenotype, epicardial functional substrates, and ventricular tachyarrhythmias in brugada syndrome. ( 28065832 )
2017
7
Brugada syndrome: Merely a ion channelopathy, a structural heart disease, or mixed? ( 27919766 )
2016
8
A case of brugada syndrome presenting with ventricular fibrillation storm and prominent early repolarization. ( 27038845 )
2016
9
Brugada syndrome presenting as incessant polymorphic ventricular tachycardia: a rare cause for a common outcome after cardiac arrest in a middle-aged Asian man. ( 27177936 )
2016
10
Risk stratification in Brugada syndrome: Where is the finish line? ( 27498077 )
2016
11
Pathogenesis and management of Brugada syndrome. ( 27629507 )
2016
12
Brugada syndrome in the paediatric population: a comprehensive approach to clinical manifestations, diagnosis, and management. ( 27151277 )
2016
13
The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance. ( 27200363 )
2016
14
Risk stratification of ventricular fibrillation in Brugada syndrome using noninvasive scoring methods. ( 27424075 )
2016
15
Drug-induced Brugada syndrome: Clinical characteristics and risk factors. ( 27131070 )
2016
16
Low-Dose Quinidine Effectively Reduced Shocks in Brugada Syndrome Patients with an Implantable Cardioverter Defibrillator: A Chinese Case Series Report. ( 27550400 )
2016
17
Prevalence and Clinical Impact of Early Repolarization Pattern and QRS-Fragmentation in High-Risk Patients With Brugada Syndrome. ( 27558008 )
2016
18
The utility of T-wave alternans during the morning in the summer for the risk stratification of patients with Brugada syndrome. ( 27480879 )
2016
19
An R1632C variant in the SCN5A gene causing Brugada syndrome. ( 27082542 )
2016
20
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. ( 26036855 )
2016
21
Atypical electrocardiographic presentation of Brugada syndrome. ( 27567233 )
2016
22
Modeling and Genome-Editing Brugada Syndrome in a Dish. ( 27810049 )
2016
23
Management of Brugada Syndrome 2016: Should All High Risk Patients Receive an ICD? All High-Risk Patients Should Receive an Implantable Cardiac Defibrillator. ( 27906652 )
2016
24
Pericarditis mimicking Brugada syndrome: A case report. ( 27863892 )
2016
25
Simultaneous Non-Invasive Epicardial and Endocardial Mapping in Patients With Brugada Syndrome: New Insights Into Arrhythmia Mechanisms. ( 27930354 )
2016
26
A Zebra Among Horses: A Case of Brugada Syndrome and Coronary Artery Disease. ( 27139138 )
2016
27
Characterization of the epicardial substrate for catheter ablation of Brugada syndrome. ( 27453126 )
2016
28
Prognostic significance of fever-induced Brugada syndrome. ( 27033637 )
2016
29
Brugada Syndrome:Risk Stratification And Management. ( 27909531 )
2016
30
A Zebra Among Horses: A Case of Brugada Syndrome and Coronary Artery Disease. ( 27139132 )
2016
31
The Complex Network of the Brugada Syndrome. ( 27150696 )
2016
32
Mutation in S6 domain of HCN4 channel in patient with suspected Brugada syndrome modifies channel function. ( 27553229 )
2016
33
p.D1690N sodium voltage-gated channelA I+ subunitA 5 mutation reduced sodium current density and is associated with Brugada syndrome. ( 27108952 )
2016
34
Variants of Brugada Syndrome and Early Repolarization Syndrome: An Expanded Concept of J-Wave Syndrome. ( 28000227 )
2016
35
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. ( 26960954 )
2016
36
Reply: Search for Evidence-Based Medicine for Brugada Syndrome: The Complex Network of the Brugada Syndrome. ( 27150697 )
2016
37
Risk factors for cardiac events in patients with Brugada syndrome: A PRISMA-compliant meta-analysis and systematic review. ( 27472692 )
2016
38
Reply: Long-QT Syndrome, Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia: A Tale of 3 Diseases : Ibutilide as a Torsade de Pointes Stress Test. ( 27282904 )
2016
39
Low amplitude ECG and QRS fragmentation in provocable coved-type ST-segment elevation on surface ECG are strong predictors of a continuum between arrhythmogenic cardiomypathy and Brugada syndrome. ( 27061648 )
2016
40
Long-Term Trends in Newly Diagnosed Brugada Syndrome: Implications for Risk Stratification. ( 27491905 )
2016
41
Pharmacological Provocation of Outflow-Tract Tachycardia in a Patient With Brugada Syndrome. ( 27032887 )
2016
42
Relationship Between Arrhythmogenic Right Ventricular Cardiomyopathy and Brugada Syndrome: New Insights From Molecular Biology and Clinical Implications. ( 26987567 )
2016
43
Management of Brugada Syndrome 2016: Should All High Risk Patients Receive an ICD? Alternatives to Implantable Cardiac Defibrillator Therapy for Brugada Syndrome. ( 27906651 )
2016
44
Clinical presentation and outcome of Brugada syndrome diagnosed with the new 2013 criteria. ( 27098113 )
2016
45
Intoxication with alcohol: An underestimated trigger of Brugada syndrome? ( 27186380 )
2016
46
Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect. ( 27381756 )
2016
47
Long-QT Syndrome, Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia: A Tale of 3 Diseases. ( 27282903 )
2016
48
Search for Evidence-Based Medicine for Brugada Syndrome. ( 27150695 )
2016
49
Late gadolinium enhancement in Brugada syndrome: A marker for subtle underlying cardiomyopathy? ( 27919765 )
2016
50
Common Variant Near HEY2 Has a Protective Effect on Ventricular Fibrillation Occurrence in Brugada Syndrome by Regulating the Repolarization Current. ( 26729854 )
2016

Variations for Brugada Syndrome

ClinVar genetic disease variations for Brugada Syndrome:

6 (show top 50) (show all 70)
id Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.4931G> A (p.Arg1644His) single nucleotide variant Pathogenic rs28937316 GRCh37 Chromosome 3, 38592932: 38592932
2 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic rs137854601 GRCh37 Chromosome 3, 38592513: 38592513
3 SCN5A NM_198056.2(SCN5A): c.5770G> A (p.Ala1924Thr) single nucleotide variant Pathogenic/Likely pathogenic rs137854603 GRCh37 Chromosome 3, 38592093: 38592093
4 SCN5A NM_198056.2(SCN5A): c.4783G> A (p.Asp1595Asn) single nucleotide variant Pathogenic/Likely pathogenic rs137854607 GRCh37 Chromosome 3, 38595800: 38595800
5 SCN5A NM_198056.2(SCN5A): c.1100G> A (p.Arg367His) single nucleotide variant Pathogenic rs28937318 GRCh37 Chromosome 3, 38648200: 38648200
6 SCN5A NM_198056.2(SCN5A): c.2204C> T (p.Ala735Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854611 GRCh37 Chromosome 3, 38639278: 38639278
7 SCN5A NM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg) single nucleotide variant Pathogenic rs137854612 GRCh37 Chromosome 3, 38601661: 38601661
8 SCN5A NM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His) single nucleotide variant Pathogenic rs137854615 GRCh37 Chromosome 3, 38592480: 38592480
9 SCN5A NM_000335.4(SCN5A): c.3781G> A (p.Gly1261Ser) single nucleotide variant Pathogenic rs137854616 GRCh37 Chromosome 3, 38607956: 38607956
10 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh37 Chromosome 3, 38607917: 38607917
11 KCNH2 NM_000238.3(KCNH2): c.2350C> T (p.Arg784Trp) single nucleotide variant Likely pathogenic,risk factor rs12720441 GRCh37 Chromosome 7, 150647304: 150647304
12 CACNA1C NM_000719.6(CACNA1C): c.116C> T (p.Ala39Val) single nucleotide variant Pathogenic rs121912776 GRCh37 Chromosome 12, 2224456: 2224456
13 SCN5A NM_198056.2(SCN5A): c.4859C> T (p.Thr1620Met) single nucleotide variant Pathogenic rs199473282 GRCh37 Chromosome 3, 38593004: 38593004
14 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
15 SCN5A NM_198056.2(SCN5A): c.1066G> A (p.Asp356Asn) single nucleotide variant Likely pathogenic rs199473565 GRCh37 Chromosome 3, 38648234: 38648234
16 SCN5A NM_198056.2(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Likely pathogenic rs199473097 GRCh37 Chromosome 3, 38648201: 38648201
17 SCN5A NM_198056.2(SCN5A): c.1127G> A (p.Arg376His) single nucleotide variant Pathogenic rs199473101 GRCh37 Chromosome 3, 38648173: 38648173
18 SCN5A NM_000335.4(SCN5A): c.1231G> A (p.Val411Met) single nucleotide variant Pathogenic rs72549410 GRCh37 Chromosome 3, 38647549: 38647549
19 SCN5A NM_198056.2(SCN5A): c.1595T> G (p.Phe532Cys) single nucleotide variant Likely pathogenic rs199473573 GRCh37 Chromosome 3, 38645498: 38645498
20 SCN5A NM_198056.2(SCN5A): c.2254G> A (p.Gly752Arg) single nucleotide variant Pathogenic/Likely pathogenic rs199473153 GRCh37 Chromosome 3, 38639228: 38639228
21 SCN5A NM_198056.2(SCN5A): c.2440C> T (p.Arg814Trp) single nucleotide variant Pathogenic/Likely pathogenic rs199473161 GRCh37 Chromosome 3, 38627529: 38627529
22 SCN5A NM_198056.2(SCN5A): c.2632C> T (p.Arg878Cys) single nucleotide variant Pathogenic rs199473168 GRCh37 Chromosome 3, 38627337: 38627337
23 SCN5A NM_198056.2(SCN5A): c.2893C> T (p.Arg965Cys) single nucleotide variant Likely pathogenic rs199473180 GRCh37 Chromosome 3, 38622757: 38622757
24 SCN5A NM_198056.2(SCN5A): c.310C> T (p.Arg104Trp) single nucleotide variant Likely pathogenic rs199473055 GRCh37 Chromosome 3, 38671884: 38671884
25 SCN5A NM_198056.2(SCN5A): c.311G> A (p.Arg104Gln) single nucleotide variant Pathogenic rs199473554 GRCh37 Chromosome 3, 38671883: 38671883
26 SCN5A NM_198056.2(SCN5A): c.361C> T (p.Arg121Trp) single nucleotide variant Likely pathogenic rs199473556 GRCh37 Chromosome 3, 38671833: 38671833
27 SCN5A NM_198056.2(SCN5A): c.362G> A (p.Arg121Gln) single nucleotide variant Pathogenic rs199473058 GRCh37 Chromosome 3, 38671832: 38671832
28 SCN5A NM_198056.2(SCN5A): c.3695G> A (p.Arg1232Gln) single nucleotide variant Likely pathogenic rs199473206 GRCh37 Chromosome 3, 38608045: 38608045
29 SCN5A NM_198056.2(SCN5A): c.3956G> T (p.Gly1319Val) single nucleotide variant Likely pathogenic rs199473220 GRCh37 Chromosome 3, 38603913: 38603913
30 SCN5A NM_198056.2(SCN5A): c.3995C> T (p.Pro1332Leu) single nucleotide variant Pathogenic rs199473225 GRCh37 Chromosome 3, 38601888: 38601888
31 SCN5A NM_198056.2(SCN5A): c.4057G> A (p.Val1353Met) single nucleotide variant Pathogenic rs199473233 GRCh37 Chromosome 3, 38601826: 38601826
32 SCN5A NM_198056.2(SCN5A): c.4217G> A (p.Gly1406Glu) single nucleotide variant Pathogenic rs199473609 GRCh37 Chromosome 3, 38601666: 38601666
33 SCN5A NM_198056.2(SCN5A): c.4321G> C (p.Glu1441Gln) single nucleotide variant Likely pathogenic rs199473249 GRCh37 Chromosome 3, 38598048: 38598048
34 SCN5A NM_198056.2(SCN5A): c.4346A> G (p.Tyr1449Cys) single nucleotide variant Likely pathogenic rs199473613 GRCh37 Chromosome 3, 38598023: 38598023
35 SCN5A NM_198056.2(SCN5A): c.4501C> G (p.Leu1501Val) single nucleotide variant Likely pathogenic rs199473266 GRCh37 Chromosome 3, 38597188: 38597188
36 SCN5A NM_198056.2(SCN5A): c.481G> A (p.Glu161Lys) single nucleotide variant Pathogenic rs199473062 GRCh37 Chromosome 3, 38663892: 38663892
37 SCN5A NM_198056.2(SCN5A): c.5227G> A (p.Gly1743Arg) single nucleotide variant Pathogenic rs199473305 GRCh37 Chromosome 3, 38592636: 38592636
38 SCN5A NM_198056.2(SCN5A): c.844C> T (p.Arg282Cys) single nucleotide variant Likely pathogenic rs199473082 GRCh37 Chromosome 3, 38651315: 38651315
39 SCN5A NM_198056.2(SCN5A): c.845G> A (p.Arg282His) single nucleotide variant Pathogenic rs199473083 GRCh37 Chromosome 3, 38651314: 38651314
40 SCN5A NM_198056.2(SCN5A): c.3963+1G> A single nucleotide variant Likely pathogenic rs483353016 GRCh37 Chromosome 3, 38603905: 38603905
41 SCN5A NM_000335.4(SCN5A): c.612-2A> G single nucleotide variant Likely pathogenic rs370438420 GRCh37 Chromosome 3, 38655327: 38655327
42 SCN5A NM_198056.2(SCN5A): c.1936delC (p.Gln646Argfs) deletion Pathogenic rs727505158 GRCh38 Chromosome 3, 38599005: 38599005
43 SCN5A NM_198056.2(SCN5A): c.255delC (p.Phe86Serfs) deletion Likely pathogenic rs727503411 GRCh37 Chromosome 3, 38674544: 38674544
44 SCN5A NM_198056.2(SCN5A): c.3995delC (p.Pro1332Argfs) deletion Pathogenic rs727504801 GRCh38 Chromosome 3, 38560397: 38560397
45 SCN5A NM_198056.2(SCN5A): c.1338+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs786204839 GRCh37 Chromosome 3, 38647440: 38647440
46 SCN5A NM_198056.2(SCN5A): c.1652C> T (p.Ala551Val) single nucleotide variant Likely pathogenic rs201641342 GRCh37 Chromosome 3, 38645441: 38645441
47 SCN5A NM_198056.2(SCN5A): c.4519_4527delCAGAAGCCC (p.Gln1507_Pro1509del) deletion Pathogenic/Likely pathogenic rs397514251 GRCh37 Chromosome 3, 38597162: 38597170
48 SCN5A NM_198056.2(SCN5A): c.2582_2583delTT (p.Phe861Trpfs) deletion Pathogenic rs794728914 GRCh37 Chromosome 3, 38627386: 38627387
49 SCN5A NM_198056.2(SCN5A): c.2575C> T (p.Gln859Ter) single nucleotide variant Pathogenic rs794728865 GRCh37 Chromosome 3, 38627394: 38627394
50 SCN5A NM_198056.2(SCN5A): c.4845_4847delCTTinsGTA (p.Tyr1615Ter) indel Pathogenic rs863224533 GRCh37 Chromosome 3, 38593016: 38593018

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 GeneCards Suite gene sharing:

(show all 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.43 CACNA1C CACNA2D1 CACNB2 SCN10A SCN1B SCN2B
2
Show member pathways
13.34 ANK3 CACNA1C CACNB2 PKP2 SCN10A SCN1B
3
Show member pathways
12.88 CACNA2D1 CACNB2 HCN4 KCND3 KCNH2 KCNJ8
4
Show member pathways
12.74 CACNA1C CACNA2D1 CACNB2 KCNJ8 SCN1B SCN5A
5
Show member pathways
12.73 CACNA1C CACNA2D1 CACNB2 SCN10A SCN1B SCN2B
6
Show member pathways
12.7 CACNA1C CACNA2D1 CACNB2 KCND3 KCNE3 KCNE5
7
Show member pathways
12.52 CACNA2D1 SCN10A SCN1B SCN2B SCN3B SCN5A
8 12.4 SCN10A SCN1B SCN2B SCN5A
9
Show member pathways
12.27 CACNA1C CACNA2D1 CACNB2 PKP2
10 12.24 CACNA1C CACNB2 KCND3 KCNE3 KCNH2 KCNJ8
11 12.04 GPD1L KCNH2 KCNJ8 SCN3B SCN5A
12
Show member pathways
11.98 HCN4 KCND3 KCNH2 KCNJ8
13
Show member pathways
11.9 ANK3 SCN10A SCN1B SCN2B SCN3B SCN5A
14 11.63 CACNA1C CACNA2D1 CACNB2
15 11.48 CACNA1C CACNA2D1 CACNB2
16 11.48 CACNA1C CACNB2 HCN4 KCND3 KCNE3 KCNE5
17 11.39 CACNA1C CACNA2D1 CACNB2
18
Show member pathways
11.24 CACNA1C CACNA2D1 CACNB2 KCNE3 KCNE5 RANGRF
19 11.21 ANK3 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)
id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 ANK3 CACNA1C CACNA2D1 CACNB2 GPD1L HCN4
2 Z disc GO:0030018 9.8 ANK3 CACNA1C SCN3B SCN5A
3 voltage-gated potassium channel complex GO:0008076 9.72 KCND3 KCNE3 KCNE5 KCNH2 KCNJ8
4 T-tubule GO:0030315 9.71 ANK3 CACNA2D1 SCN1B SCN5A
5 voltage-gated calcium channel complex GO:0005891 9.65 CACNA1C CACNA2D1 CACNB2
6 intercalated disc GO:0014704 9.65 ANK3 PKP2 RANGRF SCN1B SCN5A
7 sarcolemma GO:0042383 9.63 ANK3 CACNB2 KCND3 KCNJ8 SCN5A SLMAP
8 L-type voltage-gated calcium channel complex GO:1990454 9.54 CACNA1C CACNA2D1 CACNB2
9 node of Ranvier GO:0033268 9.52 ANK3 SCN1B
10 sodium channel complex GO:0034706 9.51 SCN1B TRPM4
11 voltage-gated sodium channel complex GO:0001518 9.02 SCN10A SCN1B SCN2B SCN3B SCN5A
12 membrane GO:0016020 10.39 ANK3 CACNA1C CACNA2D1 CACNB2 GPD1L HCN4
13 integral component of membrane GO:0016021 10.36 CACNA1C CACNA2D1 HCN4 KCND3 KCNE3 KCNE5

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

(show top 50) (show all 63)
id Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.98 CACNA1C CACNA2D1 CACNB2 TRPM4
2 cardiac muscle contraction GO:0060048 9.97 KCNE5 KCNH2 SCN1B SCN2B SCN3B SCN5A
3 regulation of ion transmembrane transport GO:0034765 9.97 CACNA1C CACNA2D1 CACNB2 HCN4 KCND3 KCNE3
4 regulation of membrane potential GO:0042391 9.96 HCN4 KCNH2 RANGRF TRPM4
5 regulation of heart rate GO:0002027 9.96 GPD1L HCN4 RANGRF SCN10A SCN5A
6 regulation of sodium ion transmembrane transporter activity GO:2000649 9.93 GPD1L RANGRF SCN1B SCN2B SCN3B
7 membrane depolarization during action potential GO:0086010 9.91 KCNH2 SCN10A SCN3B SCN5A
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.91 CACNA2D1 KCNE5 KCNH2 SCN1B SCN5A
9 positive regulation of sodium ion transport GO:0010765 9.91 ANK3 GPD1L PKP2 SCN1B SCN3B SCN5A
10 protein localization to plasma membrane GO:0072659 9.89 ANK3 SCN3B SLMAP
11 ventricular cardiac muscle cell action potential GO:0086005 9.88 GPD1L KCNE5 KCNH2 PKP2 SCN3B SCN5A
12 neuronal action potential GO:0019228 9.85 ANK3 SCN10A SCN5A
13 membrane depolarization during AV node cell action potential GO:0086045 9.85 CACNA1C CACNB2 SCN5A TRPM4
14 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.85 SCN10A SCN1B SCN2B SCN3B SCN5A
15 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.85 CACNA1C HCN4 SCN1B SCN2B SCN3B SCN5A
16 membrane depolarization GO:0051899 9.84 SCN1B SCN3B SCN5A
17 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.83 CACNA1C PKP2 TRPM4
18 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.82 KCND3 KCNE5 KCNH2
19 atrial cardiac muscle cell action potential GO:0086014 9.82 KCNE5 SCN3B SCN5A
20 potassium ion export GO:0071435 9.81 KCND3 KCNE5 KCNH2
21 regulation of sodium ion transmembrane transport GO:1902305 9.81 RANGRF SCN5A SLMAP
22 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.8 KCND3 KCNH2 KCNJ8
23 SA node cell action potential GO:0086015 9.8 HCN4 SCN3B SCN5A
24 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.79 GPD1L SCN3B SCN5A
25 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.78 SCN1B SCN5A TRPM4
26 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.77 CACNA1C CACNB2 SCN5A
27 membrane depolarization during bundle of His cell action potential GO:0086048 9.77 CACNA2D1 SCN5A TRPM4
28 regulation of cardiac muscle contraction GO:0055117 9.73 HCN4 SCN10A
29 positive regulation of heart rate GO:0010460 9.73 SCN3B TRPM4
30 regulation of potassium ion transmembrane transport GO:1901379 9.73 KCNE5 KCNH2
31 positive regulation of potassium ion transmembrane transport GO:1901381 9.73 KCNE5 KCNH2
32 calcium ion transport into cytosol GO:0060402 9.73 CACNA1C CACNA2D1
33 sodium ion import across plasma membrane GO:0098719 9.72 HCN4 TRPM4
34 positive regulation of protein localization to cell surface GO:2000010 9.72 GPD1L RANGRF
35 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.72 CACNA1C PKP2
36 regulation of membrane repolarization GO:0060306 9.72 KCNE5 KCNH2
37 regulation of potassium ion transport GO:0043266 9.72 ANK3 KCNE3
38 negative regulation of potassium ion transmembrane transport GO:1901380 9.71 KCNE5 KCNH2
39 regulation of membrane depolarization GO:0003254 9.71 HCN4 RANGRF
40 potassium ion import across plasma membrane GO:1990573 9.71 HCN4 KCNJ8
41 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.71 HCN4 RANGRF
42 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.7 ANK3 KCNE3
43 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.7 KCNE5 SCN5A
44 membrane depolarization during SA node cell action potential GO:0086046 9.7 HCN4 SCN5A
45 regulation of membrane depolarization during cardiac muscle cell action potential GO:1900825 9.69 RANGRF SLMAP
46 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.69 CACNA2D1 CACNB2
47 potassium ion export across plasma membrane GO:0097623 9.69 KCND3 KCNH2
48 response to pyrethroid GO:0046684 9.68 SCN1B SCN2B
49 AV node cell action potential GO:0086016 9.68 SCN10A SCN5A
50 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.68 CACNA1C CACNA2D1

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.88 CACNA1C HCN4 KCNH2 SCN10A SCN5A TRPM4
2 calcium channel activity GO:0005262 9.83 CACNA1C CACNA2D1 CACNB2 TRPM4
3 voltage-gated potassium channel activity GO:0005249 9.83 HCN4 KCND3 KCNE3 KCNE5 KCNH2
4 potassium channel activity GO:0005267 9.81 HCN4 KCND3 KCNE3 KCNH2
5 voltage-gated sodium channel activity GO:0005248 9.8 HCN4 SCN10A SCN1B SCN2B SCN3B SCN5A
6 sodium channel regulator activity GO:0017080 9.8 GPD1L PKP2 RANGRF SCN1B SCN2B SCN3B
7 voltage-gated calcium channel activity GO:0005245 9.73 CACNA1C CACNA2D1 CACNB2
8 sodium channel activity GO:0005272 9.7 HCN4 SCN10A SCN1B SCN2B SCN3B SCN5A
9 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.67 KCND3 KCNH2 KCNJ8
10 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.67 SCN1B SCN2B SCN3B SCN5A
11 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.65 KCND3 KCNE5 KCNH2
12 ion channel binding GO:0044325 9.65 ANK3 GPD1L KCND3 KCNE3 KCNE5 PKP2
13 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.63 CACNA1C CACNA2D1 CACNB2
14 inward rectifier potassium channel activity GO:0005242 9.58 KCNH2 KCNJ8
15 high voltage-gated calcium channel activity GO:0008331 9.57 CACNA1C CACNB2
16 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.55 CACNA1C CACNB2
17 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.54 SCN1B SCN5A
18 voltage-gated ion channel activity GO:0005244 9.32 CACNA1C HCN4 KCND3 KCNH2 KCNJ8 SCN10A

Sources for Brugada Syndrome

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