SUDS
MCID: BRG001
MIFTS: 69

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 74 25 20 43 58 36 29 54 6 44 15 71
Sudden Unexpected Nocturnal Death Syndrome 25 20 43 71
Idiopathic Ventricular Fibrillation, Brugada Type 43 58
Sudden Unexplained Nocturnal Death Syndrome 12 71
Sudden Unexplained Death 29 6
Pokkuri Death Syndrome 12 43
Bangungut 12 43
Sunds 12 43
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 20
Brugada Type Idiopathic Ventricular Fibrillation 12
Sudden Unexplained Death Syndrome 43
Death, Sudden, Unexplained 39
Syndrome, Brugada 39
Dream Disease 12
Suds 43

Characteristics:

Orphanet epidemiological data:

58
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 36 H00728
MeSH 44 D053840
NCIt 50 C142891
SNOMED-CT 67 418818005
ICD10 32 I49.8
MESH via Orphanet 45 D053840
ICD10 via Orphanet 33 I49.8
UMLS via Orphanet 72 C1142166 C1955837
Orphanet 58 ORPHA130
UMLS 71 C1142166 C1721096 C1955837 more

Summaries for Brugada Syndrome

MedlinePlus Genetics : 43 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 Ajmaline and Procainamide have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and smooth muscle, 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.

GARD : 20 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

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 269)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 4 33.6 SCN5A NSUN6 CACNB2 CACNA1C
2 brugada syndrome 5 33.4 SCN5A SCN1B LMNA KCND3
3 brugada syndrome 1 33.4 SCN5A SCN10A LOC110121269 KCND3 FBN1 CTDSPL
4 brugada syndrome 2 33.4 SCN5A GPD1L
5 cardiac conduction defect 32.6 SCN5A SCN1B MYH7 LMNA HCN4 CACNA1C
6 right bundle branch block 32.5 SCN5A SCN2B SCN1B PKP2 KCND3 HCN4
7 ventricular fibrillation, paroxysmal familial, 1 32.5 SCN5A CACNA1C
8 long qt syndrome 32.2 SCN5A SCN2B SCN1B SCN10A PKP2 MYH7
9 cardiac arrest 32.1 SCN5A MYH7 CACNB2
10 cardiac arrhythmia 31.9 SCN5A SCN1B PKP2 LOC110121269 HCN4 CACNA1C
11 sick sinus syndrome 31.9 SCN5A SCN1B SCN10A LOC110121269 LMNA HCN4
12 atrial fibrillation 31.8 SCN5A SCN2B SCN1B MYH7 LMNA HCN4
13 long qt syndrome 3 31.7 SCN5A SCN1B LOC110121269 GPD1L CACNA1C
14 arrhythmogenic right ventricular cardiomyopathy 31.7 SCN5A PKP2 MYH7 LMNA HCN4 CACNB2
15 atrial standstill 1 31.7 SCN5A SCN1B PKP2 MYH7 LMNA
16 sinoatrial node disease 31.7 SCN5A SCN1B KCND3 HCN4 GPD1L CACNA1C
17 atrioventricular block 31.6 SCN5A MYH7 LMNA HCN4 CACNA1C
18 left bundle branch hemiblock 31.5 SCN5A PKP2 LMNA
19 heart disease 31.4 SCN5A PKP2 MYH7 LMNA KCND3 HCN4
20 catecholaminergic polymorphic ventricular tachycardia 31.4 SCN5A SCN1B PKP2 MYH7 LMNA KCND3
21 sudden infant death syndrome 31.3 SCN5A SCN2B SCN1B LOC110121269 GPD1L
22 dilated cardiomyopathy 31.2 SCN5A SCN2B PKP2 MYH7 LMNA KCND3
23 short qt syndrome 31.2 SCN5A CACNB2 CACNA1C
24 hypertrophic cardiomyopathy 31.2 SCN5A SCN10A PKP2 MYH7 LMNA HCN4
25 long qt syndrome 2 31.2 SCN5A SCN1B PKP2 MYH7 KCND3 HCN4
26 first-degree atrioventricular block 31.1 SCN5A MYH7 LMNA
27 familial atrial fibrillation 31.0 SCN5A SCN2B SCN1B PKP2 MYH7 KCND3
28 left ventricular noncompaction 30.9 SCN5A SCN2B SCN1B PKP2 MYH7 LOC110121269
29 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 30.9 SCN5A PKP2 MYH7
30 lipoprotein quantitative trait locus 30.9 SCN5A PKP2 MYH7 LMNA HCN4 FBN1
31 timothy syndrome 30.9 SCN5A CACNB2 CACNA1C
32 atrial heart septal defect 30.8 SCN5A MYH7 FBN1
33 long qt syndrome 1 30.8 SCN5A SCN2B SCN1B SCN10A PKP2 MYH7
34 familial sick sinus syndrome 30.8 SCN5A HCN4
35 progressive familial heart block 30.7 SCN5A SCN1B MYH7 LOC110121269 HCN4 CACNA1C
36 third-degree atrioventricular block 30.7 SCN5A SCN1B HCN4
37 sick sinus syndrome 1 30.6 SCN5A LOC110121269
38 atrial fibrillation, familial, 10 30.6 SCN5A LOC110121269
39 idiopathic ventricular fibrillation, non brugada type 30.6 SCN5A CACNA1C
40 second-degree atrioventricular block 30.6 SCN5A HCN4
41 cardiomyopathy, familial hypertrophic, 1 30.5 SCN5A MYH7 LMNA CACNA1C
42 malignant hyperthermia 30.4 SCN5A MYH7 CACNA1C
43 long qt syndrome 6 30.4 SCN5A CACNA1C
44 brugada syndrome 3 11.7
45 brugada syndrome 6 11.7
46 brugada syndrome 8 11.7
47 brugada syndrome 9 11.6
48 brugada syndrome 7 11.6
49 progressive familial heart block, type ia 11.2
50 central hypoventilation syndrome, congenital 11.1

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



Diseases related to Brugada Syndrome

Symptoms & Phenotypes for Brugada Syndrome

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%)

MGI Mouse Phenotypes related to Brugada Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 CACNA1C CACNB2 FBN1 HCN4 KCND3 LMNA
2 muscle MP:0005369 9.17 CACNA1C FBN1 HCN4 LMNA MYH7 PKP2

Drugs & Therapeutics for Brugada Syndrome

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ajmaline Approved, Experimental Phase 4 4360-12-7 441080
2
Procainamide Approved Phase 4 51-06-9 4913
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5 Diuretics, Potassium Sparing Phase 4
6 Sodium Channel Blockers Phase 4
7 Anti-Arrhythmia Agents Phase 4
8 Central Nervous System Stimulants Phase 4
9 Dopamine Uptake Inhibitors Phase 4
10 Dopamine Agents Phase 4
11
Ethanol Approved Phase 3 64-17-5 702
12 Analgesics, Opioid Phase 3
13 Parasympatholytics Phase 3
14
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
15
Nicotine Approved Phase 2 54-11-5 942 89594
16
Guanfacine Approved, Investigational Phase 2 29110-47-2 3519
17 Protective Agents Phase 2
18 Respiratory System Agents Phase 2
19 Antioxidants Phase 2
20 Antiviral Agents Phase 2
21 N-monoacetylcystine Phase 2
22 Expectorants Phase 2
23 Antidotes Phase 2
24 Nicotinic Agonists Phase 2
25 Adrenergic alpha-Agonists Phase 2
26 Antihypertensive Agents Phase 2
27 Adrenergic Agonists Phase 2
28 Pharmaceutical Solutions Phase 1
29
Racepinephrine Approved 329-65-7 838
30
Lidocaine Approved, Vet_approved 137-58-6 3676
31
Epinephrine Approved, Vet_approved 51-43-4 5816
32
Varenicline Approved, Investigational 249296-44-4 5310966
33
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
34
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
35
Imidacloprid Vet_approved 105827-78-9 86418
36 Anesthetics
37 Epinephryl borate
38 Anesthetics, Local
39 Vasoconstrictor Agents
40 Complement System Proteins
41 Interferon-alpha
42 interferons
43 Vitamins
44 Contraceptive Agents
45 6-chloro-2-(1-piperazinyl)pyrazine
46 Serotonin Receptor Agonists
47 Psychotropic Drugs
48
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:

(show top 50) (show all 95)
# 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 Atomoxetine in Adolescents With Attention Deficit Hyperactivity Disorder (ADHD) and Substance Use Disorder (SUD) Completed NCT00218322 Phase 4 Atomoxetine hydrochloride;Placebo
3 Stimulant vs. Non-stimulant Treatments and Reward Processing in Drug-naive Youth at SUD Risk Active, not recruiting NCT03781765 Phase 4 Methylphenidate;Atomoxetine
4 Efficacy of Atomoxetine for Attention Deficit Hyperactivity Disorder (ADHD) in Adolescents and Young Adults With Substance Use Disorders (SUD) Withdrawn NCT01207622 Phase 4 Atomoxetine;Placebo
5 Randomized Controlled Trial of Osmotic-Release Methylphenidate (OROS-MPH) for Attention Deficit Hyperactivity Disorder (ADHD) in Adolescents With Substance Use Disorders (SUD) Completed NCT00264797 Phase 3 Methylphenidate (OROS-MPH);Methylphenidate (OROS-MPH) - Placebo
6 EEG/Event-related Brain Potential Risk Markers as Predictors and Outcomes of SUD Treatment in Adolescents Active, not recruiting NCT02016378 Phase 3
7 Improving Retention Across the OUD Service Cascade Upon Reentry From Jail Using Recovery Management Checkups Experiment Not yet recruiting NCT04365920 Phase 3
8 DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome Terminated NCT00701077 Phase 3 3,4-Di-amino-Pyridine;placebo
9 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)
10 A Prospective Trial Of Empiric Quinidine Therapy For Asymptomatic Brugada Syndrome. Withdrawn NCT00789165 Phase 2, Phase 3 quinidine;no therapy
11 RTC of Web Versus In-Person SUD and Comorbidity Treatment Unknown status NCT01529047 Phase 2
12 A Randomized Controlled Trial Comparing (1) a Combined Treatment of CBT for Substance Use Disorders (SUD) and Trauma-focused Structured Writing Therapy With (2) CBT for SUD Alone in Patients With Comorbid SUD and PTSD Completed NCT00763542 Phase 2
13 Dual Diagnosis Inpatients: Telephone Monitoring RCT to Improve Outcomes Completed NCT01135420 Phase 2
14 Glial Regulators for Treating Comorbid Posttraumatic Stress Disorder and Substance Use Disorders Completed NCT02911285 Phase 2 N-acetylcysteine;Placebo
15 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
16 Very Low-Nicotine Cigarettes in Smokers With SUD: Smoking, Substance Use Effects Active, not recruiting NCT01989507 Phase 2 Nicotine
17 The Use of Guanfacine (GUA) (3mg/Day) to Reduce Drug Craving, Improve Cognitive Flexibility and Result in Associated Lower Drug Use in Women With Substance Use Disorder (SUD). Active, not recruiting NCT03980184 Phase 2 Guanfacine
18 RCT of Woebot for Substance Use Disorders Phase 1 Completed NCT04096001 Phase 1
19 Recovery Group for Women With Substance Use Disorders - Stage I Completed NCT00230100 Phase 1
20 A Phase 1, Double-Blind, Sponsor-Open, Placebo-Controlled, First-In-Human Trial To Evaluate The Safety, Tolerability, Pharmacokinetics, And Pharmacodynamics Of Single Ascending Doses of CVL-936 In Healthy Subjects Terminated NCT04232878 Phase 1 CVL-936;Matching Placebo
21 Assessment of Rhythmic Risk in Patients With Type 1 Brugada Syndrome by Pulmonary Infundibulum Mapping Unknown status NCT03572881
22 Imaging and Risk Stratification in the Brugada Syndrome: a Follow-up Study Unknown status NCT03485508
23 Ripple-Mapping for the Detection of Long Duration Action Potential Areas in Patients With Brugada Syndrome Unknown status NCT03435393
24 Dynamicity of Echocardiography During Ajmaline Test Unknown status NCT03491475 Ajmaline test
25 Observatoire Des Assistances Monoventriculaires Gauches du Grand Sud Unknown status NCT02877446
26 Transitional Case Management for Patients Suffering From Substance Use Disorders Unknown status NCT03551301
27 Assertive Community Treatment for Patients Suffering From Substance Use Unknown status NCT03623178
28 Treatment for Auditory Hyper-Reactivity Behavior in Children With Autism Using Exposure and Response Prevention Principles Completed NCT03206996
29 Pilot Study of an Integrated Exposure-Based Model for Posttraumatic Stress Disorder and Substance Use Disorder Completed NCT01274741
30 Randomized Controlled Trial on the Efficacy of a Virtual Reality Paradigm to Reduce Fear of Heights in a Clinical and Subclinical Population With Fear of Heights Completed NCT04003753
31 Randomized Controlled Trial on the Efficacy of a Gamified Augmented Reality Exposure-based Application in Subjects With Fear of Spiders Completed NCT04162509
32 AnalyST & Brugada Syndrome - Feasibility Study Completed NCT02052765
33 Morphological and Functional Characteristics of the Right Ventricle in Patients With Brugada Syndrome Completed NCT03524079 Ajmaline 17-(Chloroacetate) Monohydrochloride
34 Electrical Substrate Elimination in Brugada Syndrome. Results in 135 Consecutive Patients Completed NCT02641431 Ajmaline
35 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Completed NCT02302274 flecainide iv
36 Evaluation of Subcutaneous Implantable Cardiac Defibrillator in Brugada Patients Completed NCT02344277
37 Improving Longterm SUD Outcomes With Telephone Case Monitoring Completed NCT00265512
38 Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER) Completed NCT00292032
39 Long Term Monitoring to Detect Risk of Sudden Death in Inherited Arrhythmia Patients Completed NCT04124237
40 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Completed NCT03182777
41 Substance-use Focused Screening and Brief Intervention as a Complement to Internet-based Psychiatric Treatment for Depression, Panic Disorder or Social Phobia: A Randomized Controlled Trial Completed NCT01885026
42 Recovery Group for Women With Substance Use Disorders - Stage II Trial Completed NCT01318538
43 Patient-Centered Trauma Treatment for PTSD and Substance Abuse: Is it an Effective Treatment Option? Completed NCT02081417
44 Appropriated Bowel Preparation Before Exploratory Laparotomy in Gynecologic Surgery Completed NCT02263443
45 A Randomized, Placebo-controlled Trial of Atomoxetine for Attention Deficit Hyperactivity Disorder in Adolescents With Substance Use Disorder (SUD) Completed NCT00399763 Atomoxetine;Placebo
46 ODS is a Naturalistic, Open Label, Non-randomized Follow-up Study on Depression and Related Substance Use Disorders (SUD). Study Targets: Efficacy of Psychosocial Treatment, Pharmacogenetics, Inflammation Related Biomarkers Completed NCT02520271
47 Sequenced vs. Integrated Delivery of Treatment for Adolescent Depression and SUD Completed NCT00680966
48 Effectiveness of Screening and Treatment for PTSD in SUD Patients Completed NCT00265564
49 Varenicline and Motivational Advice for Smokers With SUD Completed NCT00756275 Nicotine Replacement Treatment (NRT);varenicline
50 Brief Computer Intervention to Motivate Quitline Use for Smokers in SUD Treatment Completed NCT01882673

Search NIH Clinical Center for Brugada Syndrome

Cochrane evidence based reviews: brugada syndrome

Genetic Tests for Brugada Syndrome

Genetic tests related to Brugada Syndrome:

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

Anatomical Context for Brugada Syndrome

MalaCards organs/tissues related to Brugada Syndrome:

40
Heart, Eye, Smooth Muscle, Brain, Skeletal Muscle, Myeloid, Temporal Lobe

Publications for Brugada Syndrome

Articles related to Brugada Syndrome:

(show top 50) (show all 3217)
# Title Authors PMID Year
1
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 54 25 6 61
11823453 2002
2
A single Na(+) channel mutation causing both long-QT and Brugada syndromes. 25 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. 25 6 61
17967976 2007
4
Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel. 54 61 6
18599870 2008
5
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 6 54 61
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 54 6
15579534 2004
8
Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. 54 61 6
15338453 2004
9
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 6 25
14523039 2003
10
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 61 54 6
11748104 2001
11
Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. 61 54 6
11410597 2001
12
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
13
Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. 61 6
22457051 2012
14
Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. 6 61
21349352 2011
15
Genetic modulation of brugada syndrome by a common polymorphism. 25 54 61
19549036 2009
16
A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. 6 61
20031595 2009
17
Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. 6 61
19358333 2009
18
Role of HCN4 channel in preventing ventricular arrhythmia. 6 61
19165230 2009
19
Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. 61 6
19122847 2008
20
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 6 61
18451998 2008
21
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 6 61
18378609 2008
22
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. 6 61
17224476 2007
23
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. 61 6
16707561 2006
24
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. 25 54 61
16864729 2006
25
Monomorphic ventricular tachycardia due to Brugada syndrome successfully treated by hydroquinidine therapy in a 3-year-old child. 25 61 54
16426410 2006
26
High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. 25 54 61
16325048 2005
27
A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. 61 25 54
15910881 2005
28
Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. 25 61 54
15520322 2004
29
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 25 54 61
15466643 2004
30
Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A:. 54 25 61
15028074 2004
31
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. 61 54 25
12569159 2003
32
Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3. 61 6
11839626 2002
33
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. 54 61 25
11804990 2002
34
Molecular biology and cellular mechanisms of Brugada and long QT syndromes in infants and young children. 61 54 25
11781953 2001
35
The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. 61 25 54
10961955 2000
36
Two distinct congenital arrhythmias evoked by a multidysfunctional Na(+) channel. 61 54 25
10807877 2000
37
Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 61 6
10618304 2000
38
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. 61 6
10690282 1999
39
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 61 6
10532948 1999
40
Update on Brugada Syndrome 2019. 20 61
31522883 2021
41
Present Status of Brugada Syndrome: JACC State-of-the-Art Review. 61 20
30139433 2018
42
Brugada syndrome 2012. 61 25
22789973 2012
43
"Benign" early repolarization versus malignant early abnormalities: clinical-electrocardiographic distinction and genetic basis. 61 25
22825893 2012
44
Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization. 61 25
22028457 2011
45
Brugada syndrome caused by a large deletion in SCN5A only detected by multiplex ligation-dependent probe amplification. 61 25
21288276 2011
46
KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation. 61 25
21493962 2011
47
Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation. 6
21051419 2011
48
Electrical storm in Brugada syndrome during pregnancy. 61 25
20353417 2011
49
Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. 61 25
20817017 2010
50
Brugada syndrome: Controversies in Risk stratification and Management. 61 25
20930958 2010

Variations for Brugada Syndrome

ClinVar genetic disease variations for Brugada Syndrome:

6 (show top 50) (show all 3108)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKP2 NM_001005242.3(PKP2):c.2259C>A (p.Tyr753Ter) SNV Pathogenic 870075 12:32949141-32949141 12:32796207-32796207
2 GPD1L NM_015141.3(GPD1L):c.817C>T (p.Arg273Cys) SNV Pathogenic 789 rs72552294 3:32200566-32200566 3:32159074-32159074
3 HCN4 NM_005477.3(HCN4):c.1209+2_1209+3insGTGA Insertion Pathogenic 5177 rs786205418 15:73635723-73635724 15:73343382-73343383
4 SCN5A NM_000335.4(SCN5A):c.611+3_611+4dup Duplication Pathogenic 9372 rs397514252 3:38662329-38662330 3:38620838-38620839
5 SCN5A NM_000335.4(SCN5A):c.4187del (p.Lys1396fs) Deletion Pathogenic 9373 rs397514446 3:38601693-38601693 3:38560202-38560202
6 SCN5A NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) SNV Pathogenic 9377 rs137854601 3:38592513-38592513 3:38551022-38551022
7 SCN5A NM_000335.4(SCN5A):c.5382_5384dup (p.Glu1795_Ile1796insAsp) Duplication Pathogenic 9382 rs397514449 3:38592475-38592476 3:38550984-38550985
8 SCN5A NM_198056.2(SCN5A):c.1100G>A (p.Arg367His) SNV Pathogenic 9390 rs28937318 3:38648200-38648200 3:38606709-38606709
9 SCN5A NM_198056.2(SCN5A):c.2204C>T (p.Ala735Val) SNV Pathogenic 9391 rs137854611 3:38639278-38639278 3:38597787-38597787
10 SCN5A NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) SNV Pathogenic 9395 rs137854612 3:38601661-38601661 3:38560170-38560170
11 SCN5A NM_000335.4(SCN5A):c.5380T>C (p.Tyr1794His) SNV Pathogenic 9397 rs137854615 3:38592480-38592480 3:38550989-38550989
12 LOC110121269 NM_000335.4(SCN5A):c.3157G>A (p.Glu1053Lys) SNV Pathogenic 9400 rs137854617 3:38622493-38622493 3:38581002-38581002
13 SCN5A NM_001099405.1(SCN5A):c.4246-690G>A SNV Pathogenic 9403 rs137854620 3:38598759-38598759 3:38557268-38557268
14 SCN5A NM_000335.4(SCN5A):c.694G>A (p.Val232Ile) SNV Pathogenic 440850 rs45471994 3:38655243-38655243 3:38613752-38613752
15 SCN5A NM_198056.2(SCN5A):c.1100G>A (p.Arg367His) SNV Pathogenic 9390 rs28937318 3:38648200-38648200 3:38606709-38606709
16 SCN5A NM_198056.2(SCN5A):c.1127G>A (p.Arg376His) SNV Pathogenic 67639 rs199473101 3:38648173-38648173 3:38606682-38606682
17 SCN5A NM_198056.2(SCN5A):c.2729C>T (p.Ser910Leu) SNV Pathogenic 67753 rs199473175 3:38627240-38627240 3:38585749-38585749
18 SCN5A NM_198056.2(SCN5A):c.2678G>A (p.Arg893His) SNV Pathogenic 67749 rs199473172 3:38627291-38627291 3:38585800-38585800
19 SCN5A NM_198056.2(SCN5A):c.311G>A (p.Arg104Gln) SNV Pathogenic 67780 rs199473554 3:38671883-38671883 3:38630392-38630392
20 SCN5A NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp) SNV Pathogenic 67807 rs199473556 3:38671833-38671833 3:38630342-38630342
21 SCN5A NM_198056.2(SCN5A):c.362G>A (p.Arg121Gln) SNV Pathogenic 67808 rs199473058 3:38671832-38671832 3:38630341-38630341
22 SCN5A NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn) SNV Pathogenic 9401 rs137854618 3:38607917-38607917 3:38566426-38566426
23 SCN5A NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) SNV Pathogenic 9395 rs137854612 3:38601661-38601661 3:38560170-38560170
24 SCN5A NM_198056.2(SCN5A):c.3995C>T (p.Pro1332Leu) SNV Pathogenic 67844 rs199473225 3:38601888-38601888 3:38560397-38560397
25 SCN5A NM_198056.2(SCN5A):c.481G>A (p.Glu161Lys) SNV Pathogenic 67927 rs199473062 3:38663892-38663892 3:38622401-38622401
26 SCN5A NM_198056.2(SCN5A):c.5227G>A (p.Gly1743Arg) SNV Pathogenic 67967 rs199473305 3:38592636-38592636 3:38551145-38551145
27 SCN5A NM_000335.4(SCN5A):c.3992del (p.Pro1331fs) Deletion Pathogenic 179338 rs727504801 3:38601888-38601888 3:38560397-38560397
28 KCND3 NM_004980.4(KCND3):c.1174G>A (p.Val392Ile) SNV Pathogenic 192255 rs786205867 1:112329661-112329661 1:111787039-111787039
29 SCN5A NM_000335.4(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer) Indel Pathogenic 216142 rs863224533 3:38593016-38593018 3:38551525-38551527
30 SCN5A NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) SNV Pathogenic 67651 rs72549410 3:38647549-38647549 3:38606058-38606058
31 SCN5A NM_198056.2(SCN5A):c.4182C>G (p.Tyr1394Ter) SNV Pathogenic 216141 rs863224532 3:38601701-38601701 3:38560210-38560210
32 SCN5A NM_000335.4(SCN5A):c.2582_2583del (p.Phe861fs) Deletion Pathogenic 201561 rs794728914 3:38627386-38627387 3:38585895-38585896
33 SCN5A NM_198056.2(SCN5A):c.4772G>A (p.Trp1591Ter) SNV Pathogenic 217838 rs863225273 3:38595811-38595811 3:38554320-38554320
34 SCN5A NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) SNV Pathogenic 9377 rs137854601 3:38592513-38592513 3:38551022-38551022
35 LOC110121269 NM_000335.4(SCN5A):c.3142_3154delinsTCTGACTGTGT (p.Pro1048fs) Indel Pathogenic 242193 rs878855287 3:38622496-38622508 3:38581005-38581017
36 SCN5A NM_198056.2(SCN5A):c.4894C>T (p.Arg1632Cys) SNV Pathogenic 242199 rs878855292 3:38592969-38592969 3:38551478-38551478
37 SCN5A NM_198056.2(SCN5A):c.104del (p.Gly35fs) Deletion Pathogenic 406435 rs1060501142 3:38674695-38674695 3:38633204-38633204
38 SCN5A NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) SNV Pathogenic 67731 rs199473161 3:38627529-38627529 3:38586038-38586038
39 SCN5A NC_000003.12:g.(?_38633035)_(38633359_?)del Deletion Pathogenic 417378 3:38674526-38674850 3:38633035-38633359
40 SCN5A NM_198056.2(SCN5A):c.5428G>T (p.Glu1810Ter) SNV Pathogenic 406440 rs1060501145 3:38592435-38592435 3:38550944-38550944
41 SCN5A NM_198056.2(SCN5A):c.5417_5420del (p.Thr1806fs) Deletion Pathogenic 406415 rs1060501127 3:38592443-38592446 3:38550952-38550955
42 SCN5A NM_000335.4(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) Deletion Pathogenic 201571 rs397514251 3:38597162-38597170 3:38555671-38555679
43 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
44 SCN5A NM_198056.2(SCN5A):c.5590G>T (p.Glu1864Ter) SNV Pathogenic 406418 rs1060501129 3:38592273-38592273 3:38550782-38550782
45 LOC110121269 NM_198056.2(SCN5A):c.2933G>A (p.Trp978Ter) SNV Pathogenic 406426 rs1060501135 3:38622717-38622717 3:38581226-38581226
46 SCN5A NM_198056.2(SCN5A):c.4783G>A (p.Asp1595Asn) SNV Pathogenic 9385 rs137854607 3:38595800-38595800 3:38554309-38554309
47 SCN5A NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) SNV Pathogenic 68032 rs199473072 3:38655264-38655264 3:38613773-38613773
48 SCN5A NM_198056.2(SCN5A):c.2636G>A (p.Trp879Ter) SNV Pathogenic 406396 rs1060501114 3:38627333-38627333 3:38585842-38585842
49 SCN5A NM_198056.2(SCN5A):c.2575C>T (p.Gln859Ter) SNV Pathogenic 201475 rs794728865 3:38627394-38627394 3:38585903-38585903
50 SCN5A NC_000003.12:g.(?_38613743)_(38622489_?)del Deletion Pathogenic 417375 3:38655234-38663980 3:38613743-38622489

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:

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 hsa05410
6 Arrhythmogenic right ventricular cardiomyopathy hsa05412
7 Dilated cardiomyopathy hsa05414

Pathways related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 SEMA3A SCNN1A SCN5A SCN2B SCN1B SCN10A
2
Show member pathways
13.31 SEMA3A SCN5A SCN2B SCN1B SCN10A PKP2
3
Show member pathways
12.74 SCNN1A SCN5A SCN2B SCN1B SCN10A CACNB2
4
Show member pathways
12.53 SCN5A SCN2B SCN1B SCN10A KCND3 CACNB2
5
Show member pathways
12.45 SCNN1A SCN5A SCN2B SCN1B SCN10A
6 12.37 SCN5A SCN2B SCN1B SCN10A
7
Show member pathways
12.3 SCN5A SCN1B MYH7 CACNB2 CACNA1C
8
Show member pathways
12.05 MYH7 LMNA CACNB2 CACNA1C
9 11.92 PKP2 LMNA CACNB2 CACNA1C
10
Show member pathways
11.82 SCNN1A HCN4 CACNA1C
11
Show member pathways
11.77 SCN5A SCN2B SCN1B SCN10A
12 11.64 MYH7 CACNB2 CACNA1C
13
Show member pathways
11.31 SCN5A SCN2B SCN1B SCN10A CACNB2 CACNA1C
14 10.97 SCN5A SCN2B SCN1B LMNA KCND3 HCN4
15 10.93 SCN5A SCN2B SCN1B SCN10A

GO Terms for Brugada Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.58 SCN5A MYH7 CACNA1C
2 intercalated disc GO:0014704 9.43 SCN5A SCN1B PKP2
3 L-type voltage-gated calcium channel complex GO:1990454 9.37 CACNB2 CACNA1C
4 sarcolemma GO:0042383 9.35 SLMAP SCN5A KCND3 CACNB2 CACNA1C
5 T-tubule GO:0030315 9.33 SCN5A SCN1B CACNA1C
6 sodium channel complex GO:0034706 9.32 SCNN1A SCN1B
7 voltage-gated sodium channel complex GO:0001518 8.92 SCN5A SCN2B SCN1B SCN10A

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.13 SCNN1A SCN5A SCN2B SCN1B SCN10A KCND3
2 transmembrane transport GO:0055085 10.05 SCN5A SCN10A KCND3 HCN4 CACNA1C
3 ion transmembrane transport GO:0034220 9.94 SCNN1A SCN5A SCN1B SCN10A
4 sodium ion transport GO:0006814 9.93 SCNN1A SCN5A SCN2B SCN1B SCN10A HCN4
5 sodium ion transmembrane transport GO:0035725 9.88 SCNN1A SCN5A SCN2B SCN1B SCN10A HCN4
6 cardiac muscle contraction GO:0060048 9.84 SCN5A SCN2B SCN1B MYH7
7 cardiac conduction GO:0061337 9.83 SCN5A SCN1B KCND3 CACNB2 CACNA1C
8 muscle contraction GO:0006936 9.82 SLMAP MYH7 HCN4
9 positive regulation of sodium ion transport GO:0010765 9.8 SCN5A SCN1B PKP2 GPD1L
10 regulation of sodium ion transmembrane transporter activity GO:2000649 9.73 SCN2B SCN1B GPD1L
11 ventricular cardiac muscle cell action potential GO:0086005 9.72 SCN5A PKP2 GPD1L
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.72 SCN5A SCN2B SCN1B PKP2 CACNA1C
13 membrane depolarization during AV node cell action potential GO:0086045 9.7 SCN5A CACNB2 CACNA1C
14 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.69 SCN5A CACNB2 CACNA1C
15 calcium ion import GO:0070509 9.67 CACNB2 CACNA1C
16 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.67 SCN5A SCN2B SCN1B SCN10A
17 regulation of cardiac muscle contraction GO:0055117 9.66 SCN10A HCN4
18 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.66 SCN5A SCN1B
19 membrane depolarization GO:0051899 9.65 SCN5A SCN1B
20 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.65 SCN5A SCN2B SCN1B HCN4 CACNA1C
21 membrane depolarization during action potential GO:0086010 9.64 SCN5A SCN10A
22 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.63 PKP2 CACNA1C
23 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.63 PKP2 CACNA1C
24 regulation of heart rate GO:0002027 9.63 SEMA3A SCN5A SCN10A MYH7 HCN4 GPD1L
25 regulation of sodium ion transmembrane transport GO:1902305 9.62 SLMAP SCN5A
26 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.62 SCN5A GPD1L
27 regulation of voltage-gated sodium channel activity GO:1905150 9.61 SLMAP SCN1B
28 membrane depolarization during SA node cell action potential GO:0086046 9.61 SCN5A HCN4
29 SA node cell action potential GO:0086015 9.6 SCN5A HCN4
30 AV node cell action potential GO:0086016 9.59 SCN5A SCN10A
31 response to pyrethroid GO:0046684 9.58 SCN2B SCN1B
32 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.58 SCN5A SCN1B
33 bundle of His cell action potential GO:0086043 9.57 SCN5A SCN10A
34 regulation of ion transmembrane transport GO:0034765 9.56 SCN5A SCN2B SCN1B SCN10A KCND3 HCN4
35 regulation of heart rate by cardiac conduction GO:0086091 9.23 SCN5A SCN2B SCN1B PKP2 KCND3 HCN4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.8 SCN5A SCN10A KCND3 HCN4 CACNA1C
2 ion channel binding GO:0044325 9.73 SCN5A SCN1B SCN10A PKP2 KCND3 GPD1L
3 sodium channel regulator activity GO:0017080 9.67 SCN2B SCN1B PKP2 GPD1L
4 voltage-gated sodium channel activity GO:0005248 9.55 SCN5A SCN2B SCN1B SCN10A HCN4
5 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.5 SCN5A SCN2B SCN1B
6 high voltage-gated calcium channel activity GO:0008331 9.49 CACNB2 CACNA1C
7 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.48 CACNB2 CACNA1C
8 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.46 CACNB2 CACNA1C
9 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.43 SCN5A SCN1B
10 sodium channel activity GO:0005272 9.43 SCNN1A SCN5A SCN2B SCN1B SCN10A HCN4
11 voltage-gated ion channel activity GO:0005244 9.23 SCN5A SCN2B SCN1B SCN10A KCND3 HCN4

Sources for Brugada Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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