BRGDA1
MCID: BRG005
MIFTS: 50

Brugada Syndrome 1 (BRGDA1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Brugada Syndrome 1

MalaCards integrated aliases for Brugada Syndrome 1:

Name: Brugada Syndrome 1 57 12 74 29 13 6 15
Brgda1 57 12 74
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 57
Sudden Unexplained Nocturnal Death Syndrome; Sunds 57
Sudden Unexplained Nocturnal Death Syndrome 57
Brugada Syndrome, Type 1 40
Brugada Syndrome 72
Sunds 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
brugada syndrome 1:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110218
MeSH 44 D053840
ICD10 33 I49.8
UMLS 72 C1142166

Summaries for Brugada Syndrome 1

OMIM : 57 Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005). (601144)

MalaCards based summary : Brugada Syndrome 1, also known as brgda1, is related to brugada syndrome and long qt syndrome 3. An important gene associated with Brugada Syndrome 1 is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. The drugs Procainamide and Amifampridine have been mentioned in the context of this disorder. Affiliated tissues include heart and testes, and related phenotypes are cardiac arrest and right bundle branch block

Disease Ontology : 12 A Brugada syndrome that has material basis in heterozygous mutation in the SCN5A gene on chromosome 3p22.

UniProtKB/Swiss-Prot : 74 Brugada syndrome 1: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

Related Diseases for Brugada Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 30.7 SCN5A LOC105369689 KCNJ8 KCNH2 KCNA5 AKAP9
2 long qt syndrome 3 30.6 SCN5A KCNH2
3 syncope 30.1 SCN5A KCNH2
4 ventricular fibrillation, paroxysmal familial, 1 29.6 SCN5A RYR2 KCNH2
5 cardiac conduction defect 29.6 SCN5A RYR2 KCNH2
6 arrhythmogenic right ventricular cardiomyopathy 29.3 SCN5A RYR2 KCNH2
7 cardiac arrhythmia 29.2 SCN5A RYR2 KCNH2
8 catecholaminergic polymorphic ventricular tachycardia 29.1 SCN5A RYR2 KCNH2
9 long qt syndrome 28.5 SCN5A RYR2 KCNH2 KCNA5 AKAP9
10 brugada syndrome 2 11.2
11 brugada syndrome 3 11.2
12 brugada syndrome 4 11.2
13 brugada syndrome 5 11.2
14 brugada syndrome 6 11.2
15 brugada syndrome 8 11.2
16 brugada syndrome 9 11.2
17 long qt syndrome 13 10.1 SCN5A KCNH2
18 long qt syndrome 12 10.1 SCN5A KCNH2
19 resting heart rate, variation in 10.1
20 early repolarization associated with ventricular fibrillation 10.1
21 sleep apnea 10.1
22 dilated cardiomyopathy 10.1
23 acute pancreatitis 10.1
24 sleep disorder 10.1
25 jervell and lange-nielsen syndrome 1 10.0 SCN5A KCNH2
26 atrioventricular block 9.8 SCN5A KCNH2
27 myasthenic syndrome, congenital, 5 9.5 RYR2 KCNH2
28 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.4 SCN5A RYR2 KCNH2
29 long qt syndrome 6 9.4 SCN5A RYR2 KCNH2
30 andersen cardiodysrhythmic periodic paralysis 9.4 SCN5A RYR2 KCNH2
31 intrinsic cardiomyopathy 9.4 SCN5A RYR2 KCNH2
32 familial atrial fibrillation 9.3 SCN5A LOC105369689 KCNH2 KCNA5
33 long qt syndrome 5 9.1 SCN5A RYR2 KCNH2 AKAP9
34 long qt syndrome 2 9.1 SCN5A RYR2 KCNH2 AKAP9
35 long qt syndrome 1 9.1 SCN5A RYR2 KCNH2 AKAP9
36 cardiac arrest 9.1 SCN5A RYR2 KCNH2 AKAP9
37 heart conduction disease 9.0 SCN5A RYR2 KCNH2 KCNA5
38 atrial fibrillation 9.0 SCN5A RYR2 KCNH2 KCNA5
39 heart disease 8.8 SCN5A RYR2 KCNH2
40 sudden infant death syndrome 8.8 SCN5A RYR2 KCNJ8 KCNH2

Graphical network of the top 20 diseases related to Brugada Syndrome 1:



Diseases related to Brugada Syndrome 1

Symptoms & Phenotypes for Brugada Syndrome 1

Human phenotypes related to Brugada Syndrome 1:

32
# Description HPO Frequency HPO Source Accession
1 cardiac arrest 32 HP:0001695
2 right bundle branch block 32 HP:0011712
3 ventricular fibrillation 32 HP:0001663

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
sudden death
cardiac arrest
right bundle branch block and st segment elevation on ecg
idiopathic ventricular fibrillation

Clinical features from OMIM:

601144

MGI Mouse Phenotypes related to Brugada Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 KCNA5 KCNH2 KCNJ8 RYR2 SCN5A
2 muscle MP:0005369 8.92 KCNA5 KCNH2 RYR2 SCN5A

Drugs & Therapeutics for Brugada Syndrome 1

Drugs for Brugada Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Procainamide Approved Phase 4 51-06-9 4913
2
Amifampridine Approved, Investigational Phase 3 54-96-6
3
Quinidine Approved, Investigational Phase 3 56-54-2 441074
4 Hydroquinidine Investigational Phase 3 1435-55-8
5 Neuromuscular Agents Phase 3
6 Potassium Channel Blockers Phase 3
7 Neurotransmitter Agents Phase 3
8 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
9 Sodium Channel Blockers Phase 3
10 Quinidine gluconate Phase 3
11 Cytochrome P-450 Enzyme Inhibitors Phase 3
12 Diuretics, Potassium Sparing Phase 3
13 Adrenergic alpha-Antagonists Phase 3
14 Muscarinic Antagonists Phase 3
15 Cholinergic Agents Phase 3
16 Cholinergic Antagonists Phase 3
17 Adrenergic Agents Phase 3
18 Adrenergic Antagonists Phase 3
19 Anti-Infective Agents Phase 3
20 Anti-Arrhythmia Agents Phase 3
21 Antiparasitic Agents Phase 3
22 Antimalarials Phase 3
23 Antiprotozoal Agents Phase 3
24 Peripheral Nervous System Agents Phase 3
25 Parasympatholytics Phase 3
26 Autonomic Agents Phase 3
27
Ajmaline Approved, Experimental Phase 2 4360-12-7 441080
28 Lorajmine Experimental Phase 2 47562-08-3
29
Lidocaine Approved, Vet_approved 137-58-6 3676
30
Racepinephrine Approved 329-65-7 838
31
Epinephrine Approved, Vet_approved 51-43-4 5816
32 Anesthetics
33 Anesthetics, Local
34 Sympathomimetics
35 Adrenergic Agonists
36 Respiratory System Agents
37 Adrenergic beta-Agonists
38 Epinephryl borate
39 Adrenergic alpha-Agonists
40 Central Nervous System Depressants
41 Mydriatics
42 Anti-Asthmatic Agents
43 Vasoconstrictor Agents
44 Bronchodilator Agents

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Ajmaline Utilization in the Diagnosis and Treatment of Cardiac Arrhythmias Completed NCT00702117 Phase 4 flecainide;ajmaline;procainamide
2 DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome Unknown status NCT00701077 Phase 3 3,4-Di-amino-Pyridine;placebo
3 A Prospective Trial Of Empiric Quinidine Therapy For Asymptomatic Brugada Syndrome. Active, not recruiting NCT00789165 Phase 2, Phase 3 quinidine;no therapy
4 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)
5 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 ? Recruiting NCT02933437 Phase 2 Ajmaline
6 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
7 AnalyST & Brugada Syndrome - Feasibility Study Completed NCT02052765
8 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Completed NCT02302274 flecainide iv
9 Evaluation of Subcutaneous Implantable Cardiac Defibrillator in Brugada Patients Completed NCT02344277
10 Electrical Substrate Elimination in Brugada Syndrome. Results in 135 Consecutive Patients Completed NCT02641431 Ajmaline
11 ST-segment Elevation With Procainamide as an ECG Endophenotype of AF Completed NCT01205529 Procainamide
12 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Completed NCT03182777
13 Sodium Channel Splicing in Obstructive Sleep Apnea (SOCS-OSA) Completed NCT02725632
14 Sodium Channel Splicing in Heart Failure Trial Completed NCT01185587
15 Imaging and Risk Stratification in the Brugada Syndrome: a Follow-up Study Recruiting NCT03485508
16 Ablation in Brugada Syndrome for Prevention of VF - A Randomized, Multi-center Study of Epicardial Ablation in Brugada Syndrome Patients to Prevent Arrhythmia Recurrence Recruiting NCT02704416
17 Ripple-Mapping for the Detection of Long Duration Action Potential Areas in Patients With Brugada Syndrome Recruiting NCT03435393
18 Morphological and Functional Characteristics of the Right Ventricle in Patients With Brugada Syndrome Recruiting NCT03524079 Ajmaline 17-(Chloroacetate) Monohydrochloride
19 Dynamicity of Echocardiography During Ajmaline Test Recruiting NCT03491475 Ajmaline test
20 Worm Study: Identification of Modifier Genes in a Unique Founder Population With Sudden Cardiac Death Recruiting NCT02014961
21 Mapping of Ventricular Fibrillation (VF) Substrates and VF Arrhythmogenic Sources/Reentrant Circuits in Patients With Brugada and Early Repolarization Syndromes Recruiting NCT03764592
22 Epicardial Ablation in Brugada Syndrome in the Prevention of Sudden Cardiac Death. A Randomized Prospective Follow-up Study. Recruiting NCT03294278
23 Epicardial Ablation in 500 Consecutive Brugada Syndrome Patients Recruiting NCT03106701
24 China Inherited Ventricular Arrhythmias Registry, a Multicenter, Observational and Prospective Study Recruiting NCT03880708
25 The SUDC Registry and Research Collaborative Recruiting NCT03109197
26 Feasibility of Improving Risk Stratification in Brugada Syndrome Recruiting NCT03992677
27 Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER) Recruiting NCT00292032
28 Biomarkers of Inherited Cardiovascular Conditions Recruiting NCT02804256
29 Fetal Electrophysiologic Abnormalities in High-risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
30 Efficacy of Transcatheter Ablation Using Anatomic Approach of Ganglionated Plexi Located in the Right Atrium to Prevent Neuromediated Cardioinhibitory Syncope Recruiting NCT01814228
31 Sodium Channel Splicing in Heart Failure Trial (SOCS-HEFT) Prospective Study Recruiting NCT02738749
32 Essential Arterial Hypotension and Allostasis Registry Recruiting NCT02018497
33 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias (Long QT Syndrome, Brugada Syndrome, CPVT and Early Repolarization Syndrome) Enrolling by invitation NCT02413450
34 Assessment of Rhythmic Risk in Patients With Type 1 Brugada Syndrome by Pulmonary Infundibulum Mapping Not yet recruiting NCT03572881

Search NIH Clinical Center for Brugada Syndrome 1

Genetic Tests for Brugada Syndrome 1

Genetic tests related to Brugada Syndrome 1:

# Genetic test Affiliating Genes
1 Brugada Syndrome 1 29 SCN5A

Anatomical Context for Brugada Syndrome 1

MalaCards organs/tissues related to Brugada Syndrome 1:

41
Heart, Testes

Publications for Brugada Syndrome 1

Articles related to Brugada Syndrome 1:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel. 8 71
18599870 2008
2
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 8 71
18451998 2008
3
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 8 71
11823453 2002
4
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 8 71
11748104 2001
5
Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. 8 71
11410597 2001
6
A single Na(+) channel mutation causing both long-QT and Brugada syndromes. 8 71
10590249 1999
7
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. 8 71
10690282 1999
8
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 8 71
9521325 1998
9
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. 71
27854360 2017
10
Brugada syndrome: clinical and genetic findings. 8
25905440 2016
11
High-throughput genetic characterization of a cohort of Brugada syndrome patients. 8
26220970 2015
12
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015
13
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 71
23994779 2013
14
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. 8
23872634 2013
15
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 71
23788249 2013
16
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. 8
22840528 2012
17
New electrocardiographic criteria for discriminating between Brugada types 2 and 3 patterns and incomplete right bundle branch block. 8
22093505 2011
18
On the intriguing phenotypic manifestations of Brugada syndrome and the diagnostic value of the electrocardiogram. 8
22093506 2011
19
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 71
21810866 2011
20
The genetic basis of Brugada syndrome: a mutation update. 8
19606473 2009
21
A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. 8
20031595 2009
22
Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. 8
19122847 2008
23
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 71
18378609 2008
24
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. 8
17224476 2007
25
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. 71
16707561 2006
26
Brugada Syndrome 71
20301690 2005
27
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 8
15655131 2005
28
R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. 71
15689442 2005
29
Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. 71
15579534 2004
30
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. 71
15851227 2004
31
The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. 71
15121794 2004
32
Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. 71
15338453 2004
33
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 71
14523039 2003
34
Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families. 8
12676817 2003
35
Proposed diagnostic criteria for the Brugada syndrome: consensus report. 8
12417552 2002
36
Natural history of Brugada syndrome: insights for risk stratification and management. 8
11901046 2002
37
Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism. 71
11889015 2002
38
Prognostic value of electrophysiologic investigations in Brugada syndrome. 8
11573688 2001
39
Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 71
10618304 2000
40
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 71
10532948 1999
41
Brugada syndrome. 8
10465166 1999
42
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 71
10377081 1999
43
"Brugada" syndrome: clinical data and suggested pathophysiological mechanism. 8
9950665 1999
44
The Brugada syndrome: clinical, electrophysiologic and genetic aspects. 8
9935001 1999
45
Arrhythmogenic marker for the sudden unexplained death syndrome in Thai men. 8
9355899 1997
46
Idiopathic ventricular fibrillation induced with vagal activity in patients without obvious heart disease. 8
9142005 1997
47
Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. 71
8661019 1996
48
Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. 8
1309182 1992
49
Sudden unexplained death syndrome. A review and update. 8
1295135 1992
50
Ventricular fibrillation without apparent heart disease: description of six cases. 8
2589161 1989

Variations for Brugada Syndrome 1

ClinVar genetic disease variations for Brugada Syndrome 1:

6 (show top 50) (show all 71)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN5A NM_000335.4(SCN5A): c.468G> A (p.Trp156Ter) single nucleotide variant Pathogenic rs1553605932 3:38663905-38663905 3:38622414-38622414
2 SCN5A NM_000335.4(SCN5A): c.4468C> T (p.Gln1490Ter) single nucleotide variant Pathogenic 3:38597218-38597218 3:38555727-38555727
3 SCN5A NM_000335.4(SCN5A): c.611+3_611+4dup duplication Pathogenic rs397514252 3:38662330-38662331 3:38620839-38620840
4 SCN5A NM_000335.4(SCN5A): c.4187del (p.Lys1396fs) deletion Pathogenic rs397514446 3:38601693-38601693 3:38560202-38560202
5 SCN5A NM_000335.4(SCN5A): c.5382_5384dup (p.Glu1795_Ile1796insAsp) duplication Pathogenic rs397514449 3:38592476-38592478 3:38550985-38550987
6 SCN5A NM_000335.4(SCN5A): c.1100G> A (p.Arg367His) single nucleotide variant Pathogenic rs28937318 3:38648200-38648200 3:38606709-38606709
7 SCN5A NM_000335.4(SCN5A): c.4219G> A (p.Gly1407Arg) single nucleotide variant Pathogenic rs137854612 3:38601661-38601661 3:38560170-38560170
8 SCN5A NM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His) single nucleotide variant Pathogenic rs137854615 3:38592480-38592480 3:38550989-38550989
9 SCN5A NM_000335.4(SCN5A): c.4259G> A (p.Trp1420Ter) single nucleotide variant Pathogenic rs137854620 3:38598759-38598759 3:38557268-38557268
10 SCN5A NM_000335.4(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 3:38655272-38655272 3:38613781-38613781
11 SCN5A NM_000335.4(SCN5A): c.845G> A (p.Arg282His) single nucleotide variant Pathogenic rs199473083 3:38651314-38651314 3:38609823-38609823
12 SCN5A NM_001099404.1(SCN5A): c.615T> G (p.Tyr205Ter) single nucleotide variant Pathogenic 3:38655554-38655554 3:38614063-38614063
13 SCN5A NM_000335.4(SCN5A): c.435C> A (p.Cys145Ter) single nucleotide variant Pathogenic 3:38663938-38663938 3:38622447-38622447
14 SCN5A NM_000335.4(SCN5A): c.611+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs794728843 3:38662333-38662333 3:38620842-38620842
15 SCN5A NM_000335.4(SCN5A): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs199473556 3:38671833-38671833 3:38630342-38630342
16 SCN5A NM_000335.4(SCN5A): c.1066G> A (p.Asp356Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199473565 3:38648234-38648234 3:38606743-38606743
17 SCN5A NM_000335.4(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 3:38648201-38648201 3:38606710-38606710
18 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 3:38592734-38592734 3:38551243-38551243
19 SCN5A NM_000335.4(SCN5A): c.5347G> A (p.Glu1783Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854601 3:38592513-38592513 3:38551022-38551022
20 SCN5A NM_000335.4(SCN5A): c.2204C> T (p.Ala735Val) single nucleotide variant Likely pathogenic rs137854611 3:38639278-38639278 3:38597787-38597787
21 SCN5A NM_000335.4(SCN5A): c.4856C> T (p.Thr1619Met) single nucleotide variant Likely pathogenic rs199473282 3:38593004-38593004 3:38551513-38551513
22 SCN5A NM_000335.4(SCN5A): c.4134_4136CAA[1] (p.Asn1379del) short repeat Likely pathogenic rs794728922 3:38601741-38601743 3:38560250-38560252
23 SCN5A NM_000335.4(SCN5A): c.5353_5354del (p.Leu1785fs) deletion Likely pathogenic rs886037903 3:38592506-38592507 3:38551015-38551016
24 SCN5A NM_198056.2(SCN5A): c.4813+3_4813+6dupGGGT short repeat Likely pathogenic rs886037904 3:38595764-38595767 3:38554273-38554276
25 SCN5A NM_000335.4(SCN5A): c.1066G> T (p.Asp356Tyr) single nucleotide variant Likely pathogenic 3:38648234-38648234 3:38606743-38606743
26 SCN5A NM_000335.4(SCN5A): c.4309C> T (p.Pro1437Ser) single nucleotide variant Likely pathogenic 3:38598057-38598057 3:38556566-38556566
27 SCN5A NM_000335.4(SCN5A): c.5869C> T (p.Arg1957Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757532106 3:38591991-38591991 3:38550500-38550500
28 SCN5A NM_000335.4(SCN5A): c.3724G> A (p.Asp1242Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs199473599 3:38608013-38608013 3:38566522-38566522
29 SCN5A NM_000335.4(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 3:38645526-38645526 3:38604035-38604035
30 SCN5A NM_000335.4(SCN5A): c.2074C> A (p.Gln692Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs45553235 3:38639408-38639408 3:38597917-38597917
31 SCN5A NM_000335.4(SCN5A): c.2677C> T (p.Arg893Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473171 3:38627292-38627292 3:38585801-38585801
32 SCN5A NM_000335.4(SCN5A): c.6013C> G (p.Pro2005Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs45489199 3:38591847-38591847 3:38550356-38550356
33 SCN5A NM_000335.4(SCN5A): c.844C> T (p.Arg282Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473082 3:38651315-38651315 3:38609824-38609824
34 AKAP9 NM_005751.4(AKAP9): c.510G> C (p.Glu170Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs144888041 7:91622303-91622303 7:91992989-91992989
35 SCN5A NM_000335.4(SCN5A): c.694G> A (p.Val232Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45471994 3:38655243-38655243 3:38613752-38613752
36 SCN5A NM_000335.4(SCN5A): c.6007T> C (p.Phe2003Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41311117 3:38591853-38591853 3:38550362-38550362
37 SCN5A NM_000335.4(SCN5A): c.3157G> A (p.Glu1053Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137854617 3:38622493-38622493 3:38581002-38581002
38 SCN5A NM_000335.4(SCN5A): c.4531C> T (p.Arg1511Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137854602 3:38597155-38597155 3:38555664-38555664
39 SCN5A NM_000335.4(SCN5A): c.5767G> A (p.Ala1923Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137854603 3:38592093-38592093 3:38550602-38550602
40 SCN5A NM_000335.4(SCN5A): c.3691C> T (p.Arg1231Trp) single nucleotide variant Uncertain significance rs199473207 3:38608046-38608046 3:38566555-38566555
41 SCN5A NM_000335.4(SCN5A): c.536G> A (p.Arg179Gln) single nucleotide variant Uncertain significance rs760585484 3:38662409-38662409 3:38620918-38620918
42 SCN5A NM_000335.4(SCN5A): c.2213A> C (p.His738Pro) single nucleotide variant Uncertain significance rs1135401948 3:38639269-38639269 3:38597778-38597778
43 KCNJ8 NM_004982.4(KCNJ8): c.353C> T (p.Thr118Ile) single nucleotide variant Uncertain significance rs770087869 12:21926198-21926198 12:21773264-21773264
44 SCN5A NM_000335.4(SCN5A): c.422T> A (p.Ile141Asn) single nucleotide variant Uncertain significance rs772186966 3:38663951-38663951 3:38622460-38622460
45 RYR2 NM_001035.3(RYR2): c.4235A> G (p.Asp1412Gly) single nucleotide variant Uncertain significance rs1553515461 1:237755113-237755113 1:237591813-237591813
46 SCN5A NM_000335.4(SCN5A): c.3080G> A (p.Arg1027Gln) single nucleotide variant Uncertain significance rs763891399 3:38622570-38622570 3:38581079-38581079
47 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 3:38647498-38647498 3:38606007-38606007
48 SCN5A NM_000335.4(SCN5A): c.5537G> A (p.Arg1846His) single nucleotide variant Uncertain significance rs369058100 3:38592323-38592323 3:38550832-38550832
49 SCN5A NM_000335.4(SCN5A): c.142G> A (p.Glu48Lys) single nucleotide variant Uncertain significance rs199473048 3:38674657-38674657 3:38633166-38633166
50 SCN5A NM_000335.4(SCN5A): c.1535C> T (p.Thr512Ile) single nucleotide variant Uncertain significance rs199473118 3:38645558-38645558 3:38604067-38604067

UniProtKB/Swiss-Prot genetic disease variations for Brugada Syndrome 1:

74 (show top 50) (show all 86)
# Symbol AA change Variation ID SNP ID
1 SCN5A p.Arg1623Gln VAR_001578 rs137854600
2 SCN5A p.Glu1784Lys VAR_008959 rs137854601
3 SCN5A p.Leu1501Val VAR_009936 rs199473266
4 SCN5A p.Leu619Phe VAR_015682 rs199473133
5 SCN5A p.Thr220Ile VAR_017670 rs45620037
6 SCN5A p.Arg367His VAR_017672 rs28937318
7 SCN5A p.Gly514Cys VAR_017673 rs137854606
8 SCN5A p.Ala735Val VAR_017674 rs137854611
9 SCN5A p.Arg1193Gln VAR_017678 rs41261344
10 SCN5A p.Arg1232Trp VAR_017679 rs199473207
11 SCN5A p.Gly1408Arg VAR_017681 rs137854612
12 SCN5A p.Arg1512Trp VAR_017682 rs137854602
13 SCN5A p.Thr1620Met VAR_017684 rs199473282
14 SCN5A p.Ala1924Thr VAR_017688 rs137854603
15 SCN5A p.Tyr1795His VAR_019124 rs137854615
16 SCN5A p.Arg27His VAR_026341 rs199473045
17 SCN5A p.Lys126Glu VAR_026343 rs185492581
18 SCN5A p.Glu161Lys VAR_026344 rs199473062
19 SCN5A p.Thr187Ile VAR_026345 rs199473558
20 SCN5A p.Ala226Val VAR_026346 rs199473561
21 SCN5A p.Ile230Val VAR_026347 rs199473074
22 SCN5A p.Arg282His VAR_026348 rs199473083
23 SCN5A p.Val294Met VAR_026349 rs199473086
24 SCN5A p.Gly319Ser VAR_026350 rs199473090
25 SCN5A p.Gly351Val VAR_026351 rs199473095
26 SCN5A p.Asp356Asn VAR_026352 rs199473565
27 SCN5A p.Arg367Cys VAR_026353 rs199473097
28 SCN5A p.Met369Lys VAR_026354 rs199473098
29 SCN5A p.Gly552Arg VAR_026356 rs3918389
30 SCN5A p.Leu567Gln VAR_026357 rs199473124
31 SCN5A p.Gly615Glu VAR_026358 rs12720452
32 SCN5A p.His681Pro VAR_026359 rs199473143
33 SCN5A p.Ala735Glu VAR_026360 rs137854611
34 SCN5A p.Gly752Arg VAR_026361 rs199473153
35 SCN5A p.Phe851Leu VAR_026362 rs199473586
36 SCN5A p.Phe892Ile VAR_026363 rs199473170
37 SCN5A p.Cys896Ser VAR_026364 rs199473173
38 SCN5A p.Ser910Leu VAR_026365 rs199473175
39 SCN5A p.Arg965Cys VAR_026366 rs199473180
40 SCN5A p.Glu1053Lys VAR_026368 rs137854617
41 SCN5A p.Glu1225Lys VAR_026369 rs199473204
42 SCN5A p.Lys1236Asn VAR_026370 rs199473208
43 SCN5A p.Glu1240Gln VAR_026371 rs199473211
44 SCN5A p.Asp1275Asn VAR_026373 rs137854618
45 SCN5A p.Gly1319Val VAR_026375 rs199473220
46 SCN5A p.Phe1344Ser VAR_026376 rs199473229
47 SCN5A p.Ser1382Ile VAR_026377 rs199473608
48 SCN5A p.Val1405Leu VAR_026378 rs199473239
49 SCN5A p.Gly1406Arg VAR_026379 rs199473240
50 SCN5A p.Gly1502Ser VAR_026382 rs199473267

Expression for Brugada Syndrome 1

Search GEO for disease gene expression data for Brugada Syndrome 1.

Pathways for Brugada Syndrome 1

GO Terms for Brugada Syndrome 1

Cellular components related to Brugada Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.33 SCN5A RYR2 KCNA5
2 caveola GO:0005901 9.32 SCN5A KCNA5
3 intercalated disc GO:0014704 9.26 SCN5A KCNA5
4 sarcolemma GO:0042383 9.13 SCN5A RYR2 KCNJ8
5 voltage-gated potassium channel complex GO:0008076 8.92 KCNJ8 KCNH2 KCNA5 AKAP9

Biological processes related to Brugada Syndrome 1 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.86 SCN5A RYR2 KCNH2 KCNA5
2 ion transport GO:0006811 9.77 SCN5A RYR2 KCNJ8 KCNH2 KCNA5
3 ion transmembrane transport GO:0034220 9.75 SCN5A RYR2 KCNJ8
4 potassium ion transport GO:0006813 9.69 KCNJ8 KCNH2 KCNA5
5 potassium ion transmembrane transport GO:0071805 9.67 KCNJ8 KCNH2 KCNA5
6 regulation of heart rate GO:0002027 9.57 SCN5A RYR2
7 regulation of ion transmembrane transport GO:0034765 9.56 SCN5A KCNJ8 KCNH2 KCNA5
8 potassium ion homeostasis GO:0055075 9.55 KCNH2 KCNA5
9 membrane depolarization during action potential GO:0086010 9.54 SCN5A KCNH2
10 potassium ion export across plasma membrane GO:0097623 9.52 KCNH2 KCNA5
11 cardiac muscle contraction GO:0060048 9.5 SCN5A RYR2 KCNH2
12 regulation of membrane repolarization GO:0060306 9.48 KCNH2 AKAP9
13 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.46 KCNJ8 KCNH2
14 atrial cardiac muscle cell action potential GO:0086014 9.43 SCN5A KCNA5
15 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.4 SCN5A KCNA5
16 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.33 SCN5A KCNH2 AKAP9
17 ventricular cardiac muscle cell action potential GO:0086005 9.13 SCN5A RYR2 KCNH2
18 regulation of heart rate by cardiac conduction GO:0086091 8.92 SCN5A KCNH2 KCNA5 AKAP9

Molecular functions related to Brugada Syndrome 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.65 SCN5A RYR2 KCNA5
2 potassium channel activity GO:0005267 9.49 KCNH2 KCNA5
3 voltage-gated potassium channel activity GO:0005249 9.46 KCNH2 KCNA5
4 delayed rectifier potassium channel activity GO:0005251 9.43 KCNH2 KCNA5
5 ion channel binding GO:0044325 9.43 SCN5A RYR2 AKAP9
6 inward rectifier potassium channel activity GO:0005242 9.4 KCNJ8 KCNH2
7 protein kinase A regulatory subunit binding GO:0034237 9.37 RYR2 AKAP9
8 scaffold protein binding GO:0097110 9.33 SCN5A KCNH2 KCNA5
9 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.32 KCNJ8 KCNH2
10 ion channel activity GO:0005216 9.26 SCN5A RYR2 KCNH2 KCNA5
11 voltage-gated ion channel activity GO:0005244 8.92 SCN5A KCNJ8 KCNH2 KCNA5

Sources for Brugada Syndrome 1

3 CDC
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10 dbSNP
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17 EFO
18 ExPASy
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