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SUDS
MCID: BRG001
MIFTS: 71

Brugada Syndrome (SUDS)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Brugada Syndrome

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MalaCards integrated aliases for Brugada Syndrome:

Name: Brugada Syndrome 12 74 24 52 25 58 36 29 54 6 43 15 71
Sudden Unexpected Nocturnal Death Syndrome 24 52 25 71
Sudden Unexplained Nocturnal Death Syndrome 12 58 71
Pokkuri Death Syndrome 12 25 58
Bangungut 12 25 58
Sunds 12 25 58
Idiopathic Ventricular Fibrillation, Brugada Type 25 58
Sudden Unexplained Death 29 6
Dream Disease 12 58
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 52
Brugada Type Idiopathic Ventricular Fibrillation 12
Sudden Unexplained Death Syndrome 25
Death, Sudden, Unexplained 39
Syndrome, Brugada 39
Suds 25

Characteristics:

Orphanet epidemiological data:

58
brugada syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

GeneReviews:

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

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32 33


External Ids:

Disease Ontology 12 DOID:0050451
KEGG 36 H00728
MeSH 43 D053840
NCIt 49 C142891
SNOMED-CT 67 418818005
ICD10 32 I49.8
MESH via Orphanet 44 D053840
ICD10 via Orphanet 33 I49.8
UMLS via Orphanet 72 C1142166 C1955837
Orphanet 58 ORPHA130
UMLS 71 C1142166 C1721096 C1955837 more
Sources

Summaries for Brugada Syndrome

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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. Brugada syndrome usually becomes apparent in adulthood, although it can develop any time throughout life. Signs and symptoms related to arrhythmias, including sudden death, can occur from early infancy to late adulthood. Sudden death typically occurs around age 40. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of death in babies younger than 1 year. SIDS is characterized by sudden and unexplained death, usually during sleep. Sudden unexplained nocturnal death syndrome (SUNDS) is a condition characterized by unexpected cardiac arrest in young adults, usually at night during sleep. This condition was originally described in Southeast Asian populations, where it is a major cause of death. Researchers have determined that SUNDS and Brugada syndrome are the same disorder.

MalaCards based summary : Brugada Syndrome, also known as sudden unexpected nocturnal death syndrome, is related to brugada syndrome 4 and brugada syndrome 5. 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 Naltrexone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and eye, and related phenotypes are syncope and right bundle branch block

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

NIH Rare Diseases : 52 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. The underlying genetic cause of inherited forms of Brugada syndrome is not known in most cases, but in up to 20-30% of people with Brugada syndrome, it is caused by a mutation in the SCN5A gene . A number of other genes have been reported to be associated with Brugada syndrome in the literature, but the role they play in causing Brugada syndrome remains to be clearly defined. The genetic form of Brugada syndrome typically 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).

KEGG : 36 The Brugada syndrome (BRS) is an autosomal dominant genetic disorder that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. Diagnosis is based on clinical findings. Mutations in nine genes (SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, HCN4, and KCND3) are known to cause BRS. In approximately 20% of the cases BRS is caused by mutations in the SCN5A gene, encoding the cardiac sodium channel.

Wikipedia : 74 Brugada syndrome (BrS) is a genetic disorder in which the electrical activity within the heart is... more...

GeneReviews: NBK1517
Sources

Related Diseases for Brugada Syndrome

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Diseases in the Brugada Syndrome family:

Brugada Syndrome 1 Brugada Syndrome 2
Brugada Syndrome 3 Brugada Syndrome 4
Brugada Syndrome 5 Brugada Syndrome 6
Brugada Syndrome 7 Brugada Syndrome 8
Brugada Syndrome 9

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

(show top 50) (show all 269)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 4 35.4 SCN5A CACNB2 CACNA2D1 CACNA1C
2 brugada syndrome 5 35.3 SCN5A SCN1B KCND3
3 brugada syndrome 1 35.3 SCN5A SCN10A KCNJ8
4 brugada syndrome 6 35.2 SCN5A KCNE3
5 brugada syndrome 2 35.2 SCN5A GPD1L
6 ventricular fibrillation, paroxysmal familial, 1 33.4 SCN5A CACNA1C
7 right bundle branch block 32.8 TRPM4 SCN5A SCN3B SCN2B SCN1B PKP2
8 cardiac arrest 32.6 TRPM4 SLMAP SCN5A KCNJ8 HCN4 CALM2
9 cardiac conduction defect 32.6 SCN5A LMNA
10 long qt syndrome 32.4 TRPM4 SCN5A SCN1B PKP2 LMNA KCNE5
11 sick sinus syndrome 32.1 SCN5A SCN3B SCN1B SCN10A LMNA HCN4
12 atrial fibrillation 32.1 SCN5A SCN3B SCN2B SCN1B LMNA KCND3
13 arrhythmogenic right ventricular cardiomyopathy 32.1 TRPM4 SCN5A PKP2 LMNA HCN4 CACNB2
14 long qt syndrome 3 32.1 SCN5A SCN3B SCN1B CACNA1C
15 cardiac arrhythmia 32.0 SCN5A PKP2 CACNA1C
16 sinoatrial node disease 32.0 SCN5A SCN3B SCN1B KCNJ8 KCND3 HCN4
17 atrioventricular block 31.9 TRPM4 SCN5A LMNA HCN4 CACNA1C
18 short qt syndrome 31.9 TRPM4 SCN5A SCN3B SCN1B KCNJ8 KCNE5
19 atrial standstill 1 31.9 SCN5A SCN1B PKP2 LMNA
20 catecholaminergic polymorphic ventricular tachycardia 31.8 TRPM4 SCN5A SCN3B SCN1B PKP2 LMNA
21 familial long qt syndrome 31.7 SCN5A CACNA1C
22 left bundle branch hemiblock 31.7 SCN5A PKP2 LMNA
23 dilated cardiomyopathy 31.6 SCN5A SCN2B PKP2 LMNA KCND3 HCN4
24 sudden infant death syndrome 31.6 SCN5A SCN3B SCN2B KCNJ8 GPD1L
25 long qt syndrome 2 31.5 SCN5A SCN3B PKP2 KCNE3 KCND3 GPD1L
26 hypertrophic cardiomyopathy 31.4 TRPM4 SCN5A PKP2 LMNA KCNJ8 HCN4
27 heart disease 31.3 SCN5A PKP2 LMNA HCN4 CACNB2 CACNA1C
28 long qt syndrome 1 31.3 SCN5A SCN3B SCN2B SCN1B SCN10A PKP2
29 familial atrial fibrillation 31.3 TRPM4 SCN5A SCN3B SCN2B SCN1B SCN10A
30 first-degree atrioventricular block 31.3 SCN5A LMNA
31 left ventricular noncompaction 31.2 SCN5A SCN3B SCN2B PKP2 LMNA HCN4
32 progressive familial heart block 31.1 TRPM4 SCN5A SCN1B
33 familial sick sinus syndrome 31.1 SCN5A HCN4
34 hypokalemic periodic paralysis, type 1 31.1 SCN5A KCNJ8 KCNE5 KCNE3 CACNA1C
35 timothy syndrome 31.1 SCN5A CACNB2 CACNA2D1 CACNA1C
36 second-degree atrioventricular block 31.0 SCN5A SCN3B HCN4
37 cantú syndrome and related disorders 30.9 KCNJ8 ABCC9
38 long qt syndrome 6 30.8 SCN5A CACNA1C
39 malignant hyperthermia 30.8 SCN5A CACNA2D1 CACNA1C
40 third-degree atrioventricular block 30.4 SCN5A HCN4
41 brugada syndrome 3 12.8
42 brugada syndrome 8 12.7
43 brugada syndrome 9 12.7
44 brugada syndrome 7 12.7
45 progressive familial heart block, type ia 11.7
46 sudden arrhythmia death syndrome 11.5
47 central hypoventilation syndrome, congenital 11.3
48 epileptic encephalopathy, early infantile, 13 11.3
49 syncope 11.1
50 progressive familial heart block, type ib 10.9

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



Diseases related to Brugada Syndrome
Sources

Symptoms & Phenotypes for Brugada Syndrome

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Human phenotypes related to Brugada Syndrome:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 syncope 58 31 frequent (33%) Frequent (79-30%) HP:0001279
2 right bundle branch block 58 31 frequent (33%) Frequent (79-30%) HP:0011712
3 cardiac arrest 58 31 frequent (33%) Frequent (79-30%) HP:0001695
4 st segment elevation 58 31 frequent (33%) Frequent (79-30%) HP:0012251
5 first degree atrioventricular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0011705
6 sick sinus syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0011704
7 ventricular fibrillation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001663
8 supraventricular tachycardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004755
9 paroxysmal ventricular tachycardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004751
10 trifascicular block 58 31 very rare (1%) Very rare (<4-1%) HP:0011715
11 tachycardia 58 Occasional (29-5%)
12 ventricular arrhythmia 58 Very rare (<4-1%)

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 9.64 CALM2
2 Decreased viability GR00221-A-1 9.64 CALM2
3 Decreased viability GR00221-A-2 9.64 CALM2
4 Decreased viability GR00221-A-4 9.64 CALM2
5 Decreased viability GR00240-S-1 9.64 LMNA
6 Decreased viability GR00249-S 9.64 ABCC9 CACNA1C CACNA2D1 CALM2 KCNE3 LMNA
7 Decreased viability GR00301-A 9.64 CALM2
8 Decreased viability GR00386-A-1 9.64 LMNA
9 Decreased viability GR00402-S-2 9.64 CACNA2D1 SCN1B SCN5A

MGI Mouse Phenotypes related to Brugada Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 ABCC9 CACNA1C CACNA2D1 CACNB2 HCN4 KCND3
2 homeostasis/metabolism MP:0005376 9.93 ABCC9 CACNA1C CACNA2D1 CACNB2 KCND3 KCNE3
3 muscle MP:0005369 9.61 ABCC9 CACNA1C CACNA2D1 HCN4 KCNJ8 LMNA
4 nervous system MP:0003631 9.4 ABCC9 CACNA1C CACNA2D1 CACNB2 HCN4 KCNE3
Sources

Drugs & Therapeutics for Brugada Syndrome

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

(show top 50) (show all 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Procainamide Approved Phase 4 51-06-9 4913
2
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
3 Narcotics Phase 4
4 Narcotic Antagonists Phase 4
5
Lacosamide Approved Phase 3 175481-36-4, 860352-01-8 219078
6
Promethazine Approved, Investigational Phase 2, Phase 3 60-87-7 4927
7
Suvorexant Approved, Investigational Phase 2, Phase 3 1030377-33-3
8
Diphenhydramine Approved, Investigational Phase 2, Phase 3 58-73-1, 147-24-0 3100
9 Anticonvulsants Phase 3
10 Pharmaceutical Solutions Phase 3
11 Hypnotics and Sedatives Phase 2, Phase 3
12 Parasympatholytics Phase 3
13
Cycloserine Approved Phase 2 68-41-7 401 6234
14
Methamphetamine Approved, Illicit Phase 1, Phase 2 537-46-2 10836
15
Amphetamine Approved, Illicit, Investigational Phase 1, Phase 2 300-62-9 5826 3007
16
Oxytocin Approved, Vet_approved Phase 2 50-56-6 53477758 439302
17
Morphine Approved, Investigational Phase 2 57-27-2 5288826
18
Triamcinolone Approved, Vet_approved Phase 1, Phase 2 124-94-7 31307
19
Ajmaline Approved, Experimental Phase 2 4360-12-7 441080
20
Yohimbine Approved, Investigational, Vet_approved Phase 2 146-48-5 8969
21 Antitubercular Agents Phase 2
22 Anti-Bacterial Agents Phase 2
23 Antibiotics, Antitubercular Phase 2
24 Antimetabolites Phase 2
25 Central Nervous System Stimulants Phase 2
26 Triamcinolone diacetate Phase 1, Phase 2
27 Triamcinolone hexacetonide Phase 1, Phase 2
28 triamcinolone acetonide Phase 1, Phase 2
29 Anti-Arrhythmia Agents Phase 2
30 Diuretics, Potassium Sparing Phase 2
31 Sodium Channel Blockers Phase 2
32 Mydriatics Phase 2
33 Yohimbe Phase 2
34
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078
35 Psychotropic Drugs Phase 1
36 Hormones Phase 1
37 Hormone Antagonists Phase 1
38 Analgesics, Non-Narcotic Phase 1
39 Analgesics Phase 1
40 Hallucinogens Phase 1
41
Lidocaine Approved, Vet_approved 137-58-6 3676
42
Epinephrine Approved, Vet_approved 51-43-4 5816
43
Racepinephrine Approved 329-65-7 838
44
Fluoxetine Approved, Vet_approved 54910-89-3 3386
45
Varenicline Approved, Investigational 249296-44-4 5310966
46
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
47
Polyestradiol phosphate Approved 28014-46-2
48
Ethanol Approved 64-17-5 702
49
Nicotine Approved 54-11-5 942 89594
50
tannic acid Approved 1401-55-4

Interventional clinical trials:

(show top 50) (show all 148)
# 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 RNS® System Long-term Treatment (LTT) Clinical Investigation Completed NCT00572195 Phase 4
3 Injectable Versus Oral Naltrexone Treatment of Alcohol Dependence In Serious Mental Illness (SMI): A Pilot Study Completed NCT00453804 Phase 4 injectable naltrexone;oral naltrexone
4 Injectable Naltrexone Treatment of Alcohol Dependence in Serious Mental Illness (SMI): An Open Prospective Pilot Trial Completed NCT00453609 Phase 4 long-lasting injectable naltrexone
5 DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome Unknown status NCT00701077 Phase 3 3,4-Di-amino-Pyridine;placebo
6 Smoking Cessation & Opioid Dependence Treatment Integration: Does Timing Matter? Unknown status NCT02854800 Phase 2, Phase 3 varenicline
7 A Historical-controlled, Multicenter, Double-blind, Randomized Trial to Assess the Efficacy and Safety of Conversion to Lacosamide 400 mg/Day Monotherapy in Subjects With Partial-onset Seizures Completed NCT00520741 Phase 3 Lacosamide;Lacosamide
8 A Feasibility Study for a Phase 3, Randomized, Four-Week, Double-Blind, Placebo-Controlled, Crossover Trial of the Efficacy and Safety of PH94B Nasal Spray in the Acute Treatment of Social Anxiety Disorder (SAD) Completed NCT02622958 Phase 3 PH94B
9 The Efficacy of Suvorexant in the Residential Treatment of Patients With Substance Use Disorder and Insomnia: A Pilot Open Trial Enrolling by invitation NCT03412591 Phase 2, Phase 3 Suvorexant 20 mg
10 BRD 06/2-D (Quidam) "Evaluation of the Interest of Oral Hydroquinidine Administration to Treat Patients With Brugada Syndrome, High Cardiac Arrhythmic Risk and Implanted With an Implantable Cardioverter Defibrillator" Terminated NCT00927732 Phase 3 hydroquinidine;placebo (sugar)
11 A Prospective Trial Of Empiric Quinidine Therapy For Asymptomatic Brugada Syndrome. Withdrawn NCT00789165 Phase 2, Phase 3 quinidine;no therapy
12 The Use of D-Cycloserine to Augment Intensive Cognitive Behavioral Therapy for Pediatric Obsessive Compulsive Disorder Unknown status NCT01687140 Phase 2 D-Cycloserine;Placebo
13 Transcranial Direct Current Stimulation to Modulate Top-Down Regulation for Drug Craving in Methamphetamine Use Disorder (MUD) Completed NCT03382379 Phase 1, Phase 2
14 Development of an Anxiety Sensitivity-Based Intervention for Substance Use and Anxiety Comorbidity Completed NCT02667015 Phase 2
15 6-week Trial of Oxytocin for Co-occurring Cocaine and Opioid Use Disorders Completed NCT03016598 Phase 2 Intranasal oxytocin;Intranasal placebo
16 Group IPT for Women Prisoners With Comorbid Substance Use and Depression Completed NCT00606996 Phase 2
17 Home-based Behavioral Therapy (HBT): Psychosocial Intervention Project for Early Adolescents With Pre- or Early Substance Use Disorder: Phase II Completed NCT00280228 Phase 2
18 Cognitive Therapy for PTSD in Addiction Treatment Completed NCT00685451 Phase 1, Phase 2
19 BRAVEMIND: Advancing the Virtual Iraq/Afghanistan PTSD Exposure Therapy System for MST Completed NCT02246972 Phase 2
20 Dual Diagnosis Inpatients: Telephone Monitoring RCT to Improve Outcomes Completed NCT01135420 Phase 2
21 Psychophysiology of Prolonged Exposure for PTSD With/Without Yohimbine Completed NCT01031979 Phase 2 Yohimbine;Placebo
22 Clinical Trial of 3MDR to Treat PTSD With mTBI, With and Without Eye Movement (3MDR) Recruiting NCT03796936 Phase 2
23 Frontoparietal Synchronization to Modulate Drug Craving in Opioid Use Disorder: A Randomized Experimental Trial Recruiting NCT03907644 Phase 1, Phase 2
24 An Observational Study Into the Variety of Electrocardiographic Responses to an Ajmaline Provocation in a Healthy Subjects. What Are the Genetic and Structural Variations Dictating This Response ? Active, not recruiting NCT02933437 Phase 2 Ajmaline
25 Low-Cost, Virtual Reality System to Increase Access to Exposure Therapy for Anxiety and Obsessive Compulsive Disorders Not yet recruiting NCT03636022 Phase 2
26 Using Repetitive Transcranial Magnetic Stimulation (rTMS) to Explore Neural Mechanisms of Stress-Induced Opioid Use Not yet recruiting NCT04181515 Phase 2 Placebo oral tablet;Yohimbine + Hydrocortisone
27 Oxytocin Suppresses Substance Use Disorders Associated With Chronic Stress Completed NCT02058251 Phase 1 Oxytocin;Placebo
28 Recovery Group for Women With Substance Use Disorders - Stage I Completed NCT00230100 Phase 1
29 Effects of THC on Retention of Memory for Fear Extinction Learning in PTSD: R33 Study Not yet recruiting NCT04080427 Phase 1 Placebo capsule;Dronabinol 7.5 milligram oral capsule
30 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
31 Assessment of Rhythmic Risk in Patients With Type 1 Brugada Syndrome by Pulmonary Infundibulum Mapping Unknown status NCT03572881
32 Imaging and Risk Stratification in the Brugada Syndrome: a Follow-up Study Unknown status NCT03485508
33 Dynamicity of Echocardiography During Ajmaline Test Unknown status NCT03491475 Ajmaline test
34 Flash Open Trial With Therapists In Training Unknown status NCT03271437
35 Morphological and Functional Characteristics of the Right Ventricle in Patients With Brugada Syndrome Completed NCT03524079 Ajmaline 17-(Chloroacetate) Monohydrochloride
36 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Completed NCT02302274 flecainide iv
37 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Completed NCT03182777
38 Brain Stimulation for Epilepsy Long Term Follow-up Completed NCT00736424
39 AnalyST & Brugada Syndrome - Feasibility Study Completed NCT02052765
40 Pediatric Seizure Alarm: A Pilot Study to Establish Efficacy Parameters Completed NCT01855178
41 Evaluation of Subcutaneous Implantable Cardiac Defibrillator in Brugada Patients Completed NCT02344277
42 Electrical Substrate Elimination in Brugada Syndrome. Results in 135 Consecutive Patients Completed NCT02641431 Ajmaline
43 Metabolic Consequences of CPT1A Deficiency in Alaska Native Children Completed NCT00653666
44 Efficacy of Fluoxetine in Reducing Ictal Hypoventilation in Patients With Partial Epilepsy Completed NCT00986310 Fluoxetine;Placebo
45 Epidemiology of Long QTand Asian Sudden Death in Sleep Completed NCT00005367
46 ST-segment Elevation With Procainamide as an ECG Endophenotype of AF Completed NCT01205529 Procainamide
47 Mindfulness-Based Recovery in Veterans With Substance Use Disorders Completed NCT02326363
48 Onsite Versus Referral Models of Primary Care for Substance Abusing Patients Completed NCT00057096
49 Integrated Treatment of Operation Enduring Freedom/Operation Iraqi Freedom Veterans With Post-traumatic Stress Disorder and Substance Use Disorders Completed NCT01338506
50 Appropriated Bowel Preparation Before Exploratory Laparotomy in Gynecologic Surgery Completed NCT02263443

Search NIH Clinical Center for Brugada Syndrome

Cochrane evidence based reviews: brugada syndrome

Sources

Genetic Tests for Brugada Syndrome

About this section

Genetic tests related to Brugada Syndrome:

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

Anatomical Context for Brugada Syndrome

About this section

MalaCards organs/tissues related to Brugada Syndrome:

40
Heart, Testes, Eye, Brain, Cortex, Smooth Muscle, Skin
Sources

Publications for Brugada Syndrome

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Articles related to Brugada Syndrome:

(show top 50) (show all 3078)
# Title Authors PMID Year
1
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 61 54 6 24
11823453 2002
2
A single Na(+) channel mutation causing both long-QT and Brugada syndromes. 24 6 61 54
10590249 1999
3
Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. 6 24 61
17967976 2007
4
Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel. 54 6 61
18599870 2008
5
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 61 54 6
18464934 2008
6
Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. 61 6 54
17967977 2007
7
Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. 61 6 54
15579534 2004
8
Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. 61 54 6
15851227 2004
9
Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. 54 6 61
15338453 2004
10
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 24 6
14523039 2003
11
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 6 54 61
11748104 2001
12
Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. 54 6 61
11410597 2001
13
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 6 61
22840528 2012
14
Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. 6 61
22457051 2012
15
Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. 61 6
21349352 2011
16
Genetic modulation of brugada syndrome by a common polymorphism. 61 24 54
19549036 2009
17
A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. 61 6
20031595 2009
18
Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. 6 61
19358333 2009
19
Role of HCN4 channel in preventing ventricular arrhythmia. 61 6
19165230 2009
20
Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. 6 61
19122847 2008
21
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 61 6
18451998 2008
22
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 61 6
18378609 2008
23
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. 61 6
17224476 2007
24
A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. 6 61
16707561 2006
25
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. 54 61 24
16864729 2006
26
Monomorphic ventricular tachycardia due to Brugada syndrome successfully treated by hydroquinidine therapy in a 3-year-old child. 61 54 24
16426410 2006
27
High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. 61 54 24
16325048 2005
28
A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. 61 24 54
15910881 2005
29
Brugada Syndrome 6 61
20301690 2005
30
Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. 24 61 54
15520322 2004
31
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 24 61 54
15466643 2004
32
Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A:. 61 54 24
15028074 2004
33
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. 24 61 54
12569159 2003
34
Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3. 6 61
11839626 2002
35
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. 61 24 54
11804990 2002
36
Molecular biology and cellular mechanisms of Brugada and long QT syndromes in infants and young children. 24 61 54
11781953 2001
37
The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. 54 24 61
10961955 2000
38
Two distinct congenital arrhythmias evoked by a multidysfunctional Na(+) channel. 61 54 24
10807877 2000
39
Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 61 6
10618304 2000
40
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. 6 61
10690282 1999
41
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 6 61
10532948 1999
42
Update on Brugada Syndrome 2019. 61 52
31522883 2019
43
Present Status of Brugada Syndrome: JACC State-of-the-Art Review. 52 61
30139433 2018
44
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
45
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
46
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
47
"Benign" early repolarization versus malignant early abnormalities: clinical-electrocardiographic distinction and genetic basis. 61 24
22825893 2012
48
Brugada syndrome 2012. 24 61
22789973 2012
49
Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization. 61 24
22028457 2011
50
Brugada syndrome caused by a large deletion in SCN5A only detected by multiplex ligation-dependent probe amplification. 61 24
21288276 2011
Sources

Variations for Brugada Syndrome

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ClinVar genetic disease variations for Brugada Syndrome:

6 (show top 50) (show all 2225) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN5A NC_000003.12:g.(?_38633035)_(38633359_?)deldeletion Pathogenic 417378 3:38674526-38674850 3:38633035-38633359
2 SCN5A NC_000003.12:g.(?_38613743)_(38622489_?)deldeletion Pathogenic 417375 3:38655234-38663980 3:38613743-38622489
3 SCN5A NM_198056.2(SCN5A):c.2636G>A (p.Trp879Ter)SNV Pathogenic 406396 rs1060501114 3:38627333-38627333 3:38585842-38585842
4 SCN5A NM_198056.2(SCN5A):c.2933G>A (p.Trp978Ter)SNV Pathogenic 406426 rs1060501135 3:38622717-38622717 3:38581226-38581226
5 SCN5A NM_198056.2(SCN5A):c.104del (p.Gly35fs)deletion Pathogenic 406435 rs1060501142 3:38674695-38674695 3:38633204-38633204
6 SCN5A NM_198056.2(SCN5A):c.5428G>T (p.Glu1810Ter)SNV Pathogenic 406440 rs1060501145 3:38592435-38592435 3:38550944-38550944
7 SCN5A NM_198056.2(SCN5A):c.904G>T (p.Glu302Ter)SNV Pathogenic 406427 rs1060501136 3:38651255-38651255 3:38609764-38609764
8 SCN5A NM_198056.2(SCN5A):c.102_103delshort repeat Pathogenic 429979 rs1131691708 3:38674696-38674697 3:38633205-38633206
9 subset of 17 genes: SCN5A NC_000003.11:g.(?_37493846)_(38991873_?)deldeletion Pathogenic 463218 3:37493846-38991873
10 SCN5A NM_000335.4(SCN5A):c.3081del (p.Phe1028fs)deletion Pathogenic 463318 rs1553699663 3:38622569-38622569 3:38581078-38581078
11 SCN5A NM_198056.2(SCN5A):c.1121G>A (p.Trp374Ter)SNV Pathogenic 463292 rs1553704898 3:38648179-38648179 3:38606688-38606688
12 SCN5A NM_198056.2(SCN5A):c.204T>A (p.Tyr68Ter)SNV Pathogenic 463308 rs1553607561 3:38674595-38674595 3:38633104-38633104
13 SCN5A NM_000335.4(SCN5A):c.3873del (p.Phe1292fs)deletion Pathogenic 463332 rs1553695847 3:38603993-38603993 3:38562502-38562502
14 SCN5A NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter)SNV Pathogenic 505895 rs1553700699 3:38627503-38627503 3:38586012-38586012
15 SCN5A NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter)SNV Pathogenic 517279 rs1417036453 3:38645490-38645490 3:38603999-38603999
16 SCN5A NM_198056.2(SCN5A):c.4912C>T (p.Arg1638Ter)SNV Pathogenic 523778 rs761505217 3:38592951-38592951 3:38551460-38551460
17 SCN5A NC_000003.12:g.(?_38550301)_(38794030_?)deldeletion Pathogenic 532176 3:38591792-38835521 3:38550301-38794030
18 SCN5A NM_000335.4(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer)deletion Pathogenic 579734 rs1559720870 3:38592478-38592479 3:38550987-38550988
19 SCN5A NM_000335.4(SCN5A):c.4654del (p.Ser1552fs)deletion Pathogenic 582177 rs1559725687 3:38595926-38595926 3:38554435-38554435
20 SCN5A NM_198056.2(SCN5A):c.5386G>T (p.Glu1796Ter)SNV Pathogenic 583354 rs1553692734 3:38592477-38592477 3:38550986-38550986
21 SCN5A NM_000335.4(SCN5A):c.5354_5357TGAG[1] (p.Ser1786fs)short repeat Pathogenic 572252 rs1559720961 3:38592499-38592502 3:38551008-38551011
22 SCN5A NM_198056.2(SCN5A):c.5279T>G (p.Phe1760Cys)SNV Pathogenic 571408 rs1559721331 3:38592584-38592584 3:38551093-38551093
23 SCN5A NM_000335.5(SCN5A):c.2298dup (p.Lys767fs)duplication Pathogenic 654856 3:38629028-38629029 3:38587537-38587538
24 SCN5A NM_198056.2(SCN5A):c.1135C>T (p.Gln379Ter)SNV Pathogenic 641344 3:38648165-38648165 3:38606674-38606674
25 subset of 27 genes: SCN5A NC_000003.12:g.(?_37452365)_(38950372_?)deldeletion Pathogenic 665052 3:37493856-38991863 3:37452365-38950372
26 SCN5A NM_000335.5(SCN5A):c.5491del (p.Gln1831fs)deletion Pathogenic 856890 3:38592369-38592369 3:38550878-38550878
27 SCN5A NM_000335.5(SCN5A):c.5378del (p.Phe1793fs)deletion Pathogenic 853346 3:38592482-38592482 3:38550991-38550991
28 SCN5A NM_000335.5(SCN5A):c.2742del (p.Leu914fs)deletion Pathogenic 863801 3:38627227-38627227 3:38585736-38585736
29 SCN5A NM_000335.5(SCN5A):c.118C>T (p.Gln40Ter)SNV Pathogenic 848941 3:38674681-38674681 3:38633190-38633190
30 SCN5A NM_000335.5(SCN5A):c.3840_3841CT[2] (p.Leu1282fs)short repeat Pathogenic 858385 3:38604021-38604022 3:38562530-38562531
31 SCN5A NM_000335.5(SCN5A):c.4179del (p.Trp1394fs)deletion Pathogenic 848007 3:38601701-38601701 3:38560210-38560210
32 SCN5A NM_000335.5(SCN5A):c.2900del (p.Gln967fs)deletion Pathogenic 845474 3:38622750-38622750 3:38581259-38581259
33 SCN5A NM_000335.5(SCN5A):c.1103del (p.Leu368fs)deletion Pathogenic 844438 3:38648197-38648197 3:38606706-38606706
34 SCN5A NM_000335.5(SCN5A):c.622G>T (p.Glu208Ter)SNV Pathogenic 858096 3:38655315-38655315 3:38613824-38613824
35 SCN5A NM_000335.5(SCN5A):c.576del (p.Trp193fs)deletion Pathogenic 851951 3:38662369-38662369 3:38620878-38620878
36 SCN5A NM_000335.5(SCN5A):c.477T>G (p.Tyr159Ter)SNV Pathogenic 850294 3:38663896-38663896 3:38622405-38622405
37 PKP2 NM_001005242.3(PKP2):c.2259C>A (p.Tyr753Ter)SNV Pathogenic 870075 12:32949141-32949141 12:32796207-32796207
38 SCN5A NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His)SNV Pathogenic 9369 rs28937316 3:38592932-38592932 3:38551441-38551441
39 SCN5A NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter)SNV Pathogenic 9374 rs137854613 3:38592996-38592996 3:38551505-38551505
40 SCN5A NM_198056.2(SCN5A):c.5384A>G (p.Tyr1795Cys)SNV Pathogenic 9375 rs137854614 3:38592479-38592479 3:38550988-38550988
41 SCN5A NM_198056.2(SCN5A):c.4868G>A (p.Arg1623Gln)SNV Pathogenic 9376 rs137854600 3:38592995-38592995 3:38551504-38551504
42 SCN5A NM_198056.2(SCN5A):c.4783G>A (p.Asp1595Asn)SNV Pathogenic 9385 rs137854607 3:38595800-38595800 3:38554309-38554309
43 SCN5A NM_198056.2(SCN5A):c.1100G>A (p.Arg367His)SNV Pathogenic 9390 rs28937318 3:38648200-38648200 3:38606709-38606709
44 SCN5A NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg)SNV Pathogenic 9395 rs137854612 3:38601661-38601661 3:38560170-38560170
45 SCN5A NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn)SNV Pathogenic 9401 rs137854618 3:38607917-38607917 3:38566426-38566426
46 SCN5A NM_000335.4(SCN5A):c.5380T>C (p.Tyr1794His)SNV Pathogenic 9397 rs137854615 3:38592480-38592480 3:38550989-38550989
47 CACNA1C NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val)SNV Pathogenic 17635 rs121912776 12:2224456-2224456 12:2115290-2115290
48 LMNA NM_170707.4(LMNA):c.1130G>A (p.Arg377His)SNV Pathogenic 14495 rs61672878 1:156105885-156105885 1:156136094-156136094
49 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
50 SCN5A NM_000335.4(SCN5A):c.1231G>A (p.Val411Met)SNV Pathogenic 67651 rs72549410 3:38647549-38647549 3:38606058-38606058
Sources

Expression for Brugada Syndrome

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

Pathways for Brugada Syndrome

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Pathways related to Brugada Syndrome according to KEGG:

36
# 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 24)
# Super pathways Score Top Affiliating Genes
1
Activation of cAMP-Dependent PKA 63
Show member pathways
 13.43 SCN5A SCN3B SCN2B SCN1B SCN10A CALM2
2
Developmental Biology 65
Show member pathways
 13.38 SCN5A SCN3B SCN2B SCN1B SCN10A PKP2
3
Transmission across Chemical Synapses 65
Show member pathways
 12.89 KCNJ8 KCND3 HCN4 CALM2 CACNB2 CACNA2D1
4
G-Beta Gamma Signaling 63
Show member pathways
 12.85 SCN5A SCN3B SCN2B SCN1B SCN10A CALM2
5
nNOS Signaling in Skeletal Muscle 63
Show member pathways
 12.56 LMNA CALM2 CACNB2 CACNA2D1 CACNA1C
6
Neuropathic Pain-Signaling in Dorsal Horn Neurons 63
Show member pathways
 12.55 SCN5A SCN3B SCN2B SCN1B SCN10A CACNA2D1
7
Cardiac conduction 65
Show member pathways
 12.5 SCN5A SCN3B SCN2B SCN1B SCN10A KCNE5
8
Neuroscience 4
12.45 SCN5A SCN2B SCN1B SCN10A
9
cGMP-PKG signaling pathway 36
Show member pathways
 12.41 SCN5A SCN1B KCNJ8 CALM2 CACNB2 CACNA2D1
10
Oxytocin signaling pathway 36
Show member pathways
 12.37 CALM2 CACNB2 CACNA2D1 CACNA1C
11
Dopamine-DARPP32 Feedback onto cAMP Pathway 63
12.24 KCNJ8 KCNE3 KCND3 CALM2 CACNB2 CACNA1C
12
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 12.22 CALM2 CACNB2 CACNA2D1 CACNA1C
13
Dilated cardiomyopathy (DCM) 36
Show member pathways
 12.15 LMNA CACNB2 CACNA2D1 CACNA1C
14
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.06 SCN5A SCN3B KCNJ8 GPD1L
15
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 36
Show member pathways
 12.04 PKP2 LMNA CACNB2 CACNA2D1 CACNA1C
16
Potassium Channels 65
Show member pathways
 12.01 KCNJ8 KCND3 HCN4 ABCC9
17
L1CAM interactions 65
Show member pathways
 11.93 SCN5A SCN3B SCN2B SCN1B SCN10A
18
Fc-GammaR Pathway 63
Show member pathways
 11.91 CACNB2 CACNA2D1 CACNA1C
19
Phase 0 - rapid depolarisation 65
Show member pathways
 11.77 SCN5A SCN3B SCN2B SCN1B SCN10A KCNE5
20
Cardiac muscle contraction 36
11.71 CACNB2 CACNA2D1 CACNA1C
21
Celecoxib Pathway, Pharmacodynamics 60
11.52 CACNB2 CACNA2D1 CACNA1C
22
Netrin Signaling 63
11.42 CACNB2 CACNA2D1 CACNA1C
23
Antiarrhythmic Pathway, Pharmacodynamics 60
11.18 SCN5A SCN3B SCN2B SCN1B LMNA KCNJ8
24
Interaction between L1 and Ankyrins 65
11.13 SCN5A SCN3B SCN2B SCN1B SCN10A
Sources

GO Terms for Brugada Syndrome

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.39 TRPM4 SLMAP SCN5A SCN3B SCN2B SCN1B
2 integral component of membrane GO:0016021 10.22 TRPM4 SLMAP SCN5A SCN3B SCN2B SCN1B
3 plasma membrane GO:0005886 9.91 TRPM4 SLMAP SCN5A SCN3B SCN1B SCN10A
4 intercalated disc GO:0014704 9.69 SCN5A SCN1B PKP2
5 T-tubule GO:0030315 9.67 SCN5A SCN1B CACNA2D1 CACNA1C
6 voltage-gated potassium channel complex GO:0008076 9.65 KCNJ8 KCNE5 KCNE3 KCND3 CALM2
7 sarcolemma GO:0042383 9.63 SLMAP SCN5A KCNJ8 KCND3 CACNB2 CACNA1C
8 voltage-gated calcium channel complex GO:0005891 9.61 CACNB2 CACNA2D1 CACNA1C
9 L-type voltage-gated calcium channel complex GO:1990454 9.58 CACNB2 CACNA2D1 CACNA1C
10 sodium channel complex GO:0034706 9.52 TRPM4 SCN1B
11 inward rectifying potassium channel GO:0008282 9.49 KCNJ8 ABCC9
12 potassium ion-transporting ATPase complex GO:0031004 9.48 KCNJ8 ABCC9
13 voltage-gated sodium channel complex GO:0001518 9.02 SCN5A SCN3B SCN2B SCN1B SCN10A

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

(show top 50) (show all 53)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.19 TRPM4 SCN5A SCN10A KCND3 HCN4 CACNA1C
2 potassium ion transport GO:0006813 10.03 KCNJ8 KCNE3 KCND3 HCN4 ABCC9
3 sodium ion transport GO:0006814 10.03 SCN5A SCN3B SCN2B SCN1B SCN10A HCN4
4 potassium ion transmembrane transport GO:0071805 10.02 KCNJ8 KCNE3 KCND3 HCN4 ABCC9
5 ion transmembrane transport GO:0034220 10.01 TRPM4 SCN5A SCN10A KCNJ8
6 protein localization to plasma membrane GO:0072659 9.99 SLMAP SCN3B PKP2 CACNB2
7 sodium ion transmembrane transport GO:0035725 9.99 SCN5A SCN3B SCN2B SCN1B SCN10A HCN4
8 calcium ion transport GO:0006816 9.98 TRPM4 CACNB2 CACNA2D1 CACNA1C
9 calcium ion transmembrane transport GO:0070588 9.97 TRPM4 CACNB2 CACNA2D1 CACNA1C
10 cardiac muscle contraction GO:0060048 9.95 SCN5A SCN3B SCN2B SCN1B KCNE5
11 regulation of ion transmembrane transport GO:0034765 9.93 SCN5A SCN3B SCN2B SCN1B SCN10A KCNJ8
12 regulation of heart rate GO:0002027 9.92 SCN5A SCN10A HCN4 GPD1L CALM2
13 cardiac conduction GO:0061337 9.91 TRPM4 SCN5A SCN3B SCN1B KCND3 CACNB2
14 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.88 SCN5A SCN1B KCNE5 KCNE3 CACNA2D1
15 ventricular cardiac muscle cell action potential GO:0086005 9.88 SCN5A SCN3B PKP2 KCNE5 KCNE3 GPD1L
16 regulation of sodium ion transmembrane transporter activity GO:2000649 9.87 SCN3B SCN2B SCN1B GPD1L
17 cardiac muscle cell action potential involved in contraction GO:0086002 9.87 SCN5A SCN3B SCN2B SCN1B PKP2 CACNA2D1
18 potassium ion import across plasma membrane GO:1990573 9.86 KCNJ8 HCN4 ABCC9
19 positive regulation of sodium ion transport GO:0010765 9.85 SCN5A SCN3B SCN1B PKP2 GPD1L
20 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.85 SCN5A SCN3B SCN2B SCN1B HCN4 CACNA1C
21 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.84 KCNJ8 KCNE5 KCNE3 KCND3
22 regulation of cardiac muscle contraction GO:0055117 9.83 SCN10A HCN4 CALM2
23 membrane depolarization GO:0051899 9.83 SCN5A SCN3B SCN1B
24 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.83 SCN5A SCN3B SCN2B SCN1B SCN10A
25 membrane depolarization during action potential GO:0086010 9.82 SCN5A SCN3B SCN10A
26 potassium ion export across plasma membrane GO:0097623 9.81 KCNE5 KCNE3 KCND3
27 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.81 TRPM4 PKP2 CACNA1C
28 membrane depolarization during AV node cell action potential GO:0086045 9.8 TRPM4 SCN5A CACNB2 CACNA1C
29 atrial cardiac muscle cell action potential GO:0086014 9.79 SCN5A SCN3B KCNE5
30 inorganic cation transmembrane transport GO:0098662 9.79 TRPM4 KCNJ8 ABCC9
31 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.78 SCN5A SCN3B GPD1L
32 SA node cell action potential GO:0086015 9.77 SCN5A SCN3B HCN4
33 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.77 SCN5A CACNB2 CACNA1C
34 regulation of heart rate by cardiac conduction GO:0086091 9.77 TRPM4 SCN5A SCN3B SCN2B SCN1B PKP2
35 membrane depolarization during bundle of His cell action potential GO:0086048 9.76 TRPM4 SCN5A CACNA2D1
36 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.75 TRPM4 SCN5A SCN1B
37 sodium ion import across plasma membrane GO:0098719 9.71 TRPM4 HCN4
38 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.71 KCNE5 KCNE3
39 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.71 PKP2 CACNA1C
40 calcium ion transport into cytosol GO:0060402 9.71 CACNA2D1 CACNA1C
41 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.7 KCNE5 KCND3
42 membrane repolarization during action potential GO:0086011 9.7 KCNE5 KCNE3
43 regulation of sodium ion transmembrane transport GO:1902305 9.7 SLMAP SCN5A
44 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.7 SCN5A KCNE5
45 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.69 CACNB2 CACNA2D1
46 membrane depolarization during SA node cell action potential GO:0086046 9.69 SCN5A HCN4
47 AV node cell action potential GO:0086016 9.68 SCN5A SCN10A
48 response to pyrethroid GO:0046684 9.68 SCN2B SCN1B
49 regulation of voltage-gated sodium channel activity GO:1905150 9.67 SLMAP SCN1B
50 negative regulation of potassium ion export across plasma membrane GO:1903765 9.67 KCNE5 KCNE3

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.93 TRPM4 SCN5A SCN10A KCND3 HCN4 CACNA1C
2 calcium channel activity GO:0005262 9.81 TRPM4 CACNB2 CACNA2D1 CACNA1C
3 potassium channel activity GO:0005267 9.8 KCNE3 KCND3 HCN4 ABCC9
4 voltage-gated potassium channel activity GO:0005249 9.78 KCNE5 KCNE3 KCND3 HCN4
5 sodium channel regulator activity GO:0017080 9.77 SCN3B SCN2B SCN1B PKP2 GPD1L
6 cation channel activity GO:0005261 9.74 SCN5A SCN10A ABCC9
7 potassium channel regulator activity GO:0015459 9.73 KCNE5 KCNE3 ABCC9
8 voltage-gated calcium channel activity GO:0005245 9.72 CACNB2 CACNA2D1 CACNA1C
9 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.71 KCNJ8 KCNE5 KCNE3 KCND3
10 ion channel binding GO:0044325 9.7 SCN5A SCN3B SCN1B SCN10A PKP2 KCNE5
11 voltage-gated sodium channel activity GO:0005248 9.65 SCN5A SCN2B SCN1B SCN10A HCN4
12 sodium channel activity GO:0005272 9.63 SCN5A SCN3B SCN2B SCN1B SCN10A HCN4
13 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.62 SCN5A SCN3B SCN2B SCN1B
14 cation-transporting ATPase activity GO:0019829 9.61 KCNJ8 ABCC9
15 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.61 CACNB2 CACNA2D1 CACNA1C
16 high voltage-gated calcium channel activity GO:0008331 9.6 CACNB2 CACNA1C
17 sodium channel inhibitor activity GO:0019871 9.59 SCN3B SCN1B
18 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.58 KCNE5 KCND3
19 ATP-activated inward rectifier potassium channel activity GO:0015272 9.58 KCNJ8 ABCC9
20 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.54 CACNB2 CACNA1C
21 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.52 SCN5A SCN1B
22 voltage-gated ion channel activity GO:0005244 9.4 SCN5A SCN3B SCN2B SCN1B SCN10A KCNJ8
Sources

Sources for Brugada Syndrome

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