BRGDA5
MCID: BRG007
MIFTS: 38

Brugada Syndrome 5 (BRGDA5)

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

Aliases & Classifications for Brugada Syndrome 5

MalaCards integrated aliases for Brugada Syndrome 5:

Name: Brugada Syndrome 5 57 12 74 29 13 6 72
Cardiac Conduction Defect, Nonspecific 57 29 6
Brgda5 57 12 74
Brugada Syndrome, Type 5 40

Characteristics:

HPO:

32
brugada syndrome 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110222
MeSH 44 D053840
ICD10 33 I49.8
MedGen 42 C2748541
UMLS 72 C2748541

Summaries for Brugada Syndrome 5

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). For a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 (601144). (612838)

MalaCards based summary : Brugada Syndrome 5, also known as cardiac conduction defect, nonspecific, is related to familial progressive cardiac conduction defect and atrial fibrillation. An important gene associated with Brugada Syndrome 5 is SCN1B (Sodium Voltage-Gated Channel Beta Subunit 1), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Neuroscience. Affiliated tissues include heart, and related phenotypes are bundle branch block and ventricular fibrillation

Disease Ontology : 12 A Brugada syndrome that has material basis in heterozygous mutation in the SCN1B gene on chromosome 19q13.

UniProtKB/Swiss-Prot : 74 Brugada syndrome 5: 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 5

Graphical network of the top 20 diseases related to Brugada Syndrome 5:



Diseases related to Brugada Syndrome 5

Symptoms & Phenotypes for Brugada Syndrome 5

Human phenotypes related to Brugada Syndrome 5:

32
# Description HPO Frequency HPO Source Accession
1 bundle branch block 32 HP:0011710
2 ventricular fibrillation 32 HP:0001663
3 st segment elevation 32 HP:0012251

Clinical features from OMIM:

612838

Drugs & Therapeutics for Brugada Syndrome 5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sodium Channel Splicing in Heart Failure Trial Completed NCT01185587

Search NIH Clinical Center for Brugada Syndrome 5

Genetic Tests for Brugada Syndrome 5

Genetic tests related to Brugada Syndrome 5:

# Genetic test Affiliating Genes
1 Brugada Syndrome 5 29 SCN1B
2 Cardiac Conduction Defect, Nonspecific 29

Anatomical Context for Brugada Syndrome 5

MalaCards organs/tissues related to Brugada Syndrome 5:

41
Heart

Publications for Brugada Syndrome 5

Articles related to Brugada Syndrome 5:

# Title Authors PMID Year
1
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 8 71
18464934 2008
2
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 71
23994779 2013
3
Brugada Syndrome 71
20301690 2005
4
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 8
15655131 2005
5
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 71
14523039 2003
6
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 71
11748104 2001
7
Significance of automated external defibrillator in identifying lethal ventricular arrhythmias. 38
31297625 2019
8
Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study). 38
26189708 2015

Variations for Brugada Syndrome 5

ClinVar genetic disease variations for Brugada Syndrome 5:

6 (show top 50) (show all 107)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN1B NM_001037.5(SCN1B): c.259G> C (p.Glu87Gln) single nucleotide variant Pathogenic rs121434627 19:35524454-35524454 19:35033550-35033550
2 SCN1B NM_001037.5(SCN1B): c.448+89G> A single nucleotide variant Pathogenic rs267607029 19:35524732-35524732 19:35033828-35033828
3 SCN5A NM_000335.4(SCN5A): c.1540G> T (p.Gly514Cys) single nucleotide variant Pathogenic rs137854606 3:38645553-38645553 3:38604062-38604062
4 SCN5A NM_000335.4(SCN5A): c.4219G> A (p.Gly1407Arg) single nucleotide variant Pathogenic rs137854612 3:38601661-38601661 3:38560170-38560170
5 SCN1B NM_001037.5(SCN1B): c.254G> A (p.Arg85His) single nucleotide variant Pathogenic rs16969925 19:35524449-35524449 19:35033545-35033545
6 SCN1B NM_001037.5(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 19:35524558-35524558 19:35033654-35033654
7 SCN5A NM_000335.4(SCN5A): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic/Likely pathogenic rs199473072 3:38655264-38655264 3:38613773-38613773
8 LMNA NM_005572.3(LMNA): c.354_355delinsAG (p.Arg119Gly) indel Likely pathogenic rs869025458 1:156085063-156085064 1:156115272-156115273
9 SCN1B NM_001037.5(SCN1B): c.273G> A (p.Val91=) single nucleotide variant Conflicting interpretations of pathogenicity rs16969926 19:35524468-35524468 19:35033564-35033564
10 SCN1B NM_001037.5(SCN1B): c.448+295G> T single nucleotide variant Conflicting interpretations of pathogenicity rs786205828 19:35524938-35524938 19:35034034-35034034
11 SCN1B NM_001037.5(SCN1B): c.448+345C> T single nucleotide variant Conflicting interpretations of pathogenicity rs754815235 19:35524988-35524988 19:35034084-35034084
12 SCN1B NM_001037.5(SCN1B): c.632G> A (p.Cys211Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs150721582 19:35530580-35530580 19:35039676-35039676
13 SCN5A NM_000335.4(SCN5A): c.689T> C (p.Ile230Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199473073 3:38655248-38655248 3:38613757-38613757
14 SCN5A NM_000335.4(SCN5A): c.4892G> A (p.Arg1631His) single nucleotide variant Conflicting interpretations of pathogenicity rs199473286 3:38592968-38592968 3:38551477-38551477
15 SCN1B NM_001037.5(SCN1B): c.561C> T (p.Ala187=) single nucleotide variant Conflicting interpretations of pathogenicity rs587781152 19:35530133-35530133 19:35039229-35039229
16 SCN1B NM_001037.5(SCN1B): c.448+193G> A single nucleotide variant Conflicting interpretations of pathogenicity rs66876876 19:35524836-35524836 19:35033932-35033932
17 SCN1B NM_001037.5(SCN1B): c.412G> A (p.Val138Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72558029 19:35524607-35524607 19:35033703-35033703
18 SCN1B NM_001037.5(SCN1B): c.448+112G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72558026 19:35524755-35524755 19:35033851-35033851
19 SCN1B NM_001037.5(SCN1B): c.23T> C (p.Val8Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs786205833 19:35521747-35521747 19:35030843-35030843
20 SCN1B NM_001037.5(SCN1B): c.28G> A (p.Gly10Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72552027 19:35521752-35521752 19:35030848-35030848
21 SCN1B NM_001037.5(SCN1B): c.448+88G> A single nucleotide variant Conflicting interpretations of pathogenicity rs267607028 19:35524731-35524731 19:35033827-35033827
22 SCN1B NM_001037.5(SCN1B): c.255C> G (p.Arg85=) single nucleotide variant Conflicting interpretations of pathogenicity rs1060501166 19:35524450-35524450 19:35033546-35033546
23 SCN1B NM_001037.5(SCN1B): c.448+111C> T single nucleotide variant Conflicting interpretations of pathogenicity rs758654948 19:35524754-35524754 19:35033850-35033850
24 SCN1B NM_001037.5(SCN1B): c.448+299A> G single nucleotide variant Uncertain significance rs1027861663 19:35524942-35524942 19:35034038-35034038
25 SCN1B NM_001037.5(SCN1B): c.522C> A (p.Leu174=) single nucleotide variant Uncertain significance rs35478147 19:35530094-35530094 19:35039190-35039190
26 SCN1B NM_001037.5(SCN1B): c.136C> T (p.Arg46Cys) single nucleotide variant Uncertain significance rs371646049 19:35523527-35523527 19:35032623-35032623
27 SCN1B NM_001037.5(SCN1B): c.448+192C> T single nucleotide variant Uncertain significance rs72558027 19:35524835-35524835 19:35033931-35033931
28 SCN1B NM_001037.5(SCN1B): c.448+252C> T single nucleotide variant Uncertain significance rs374235844 19:35524895-35524895 19:35033991-35033991
29 SCN1B NM_001037.5(SCN1B): c.623A> T (p.Lys208Ile) single nucleotide variant Uncertain significance rs780958012 19:35530571-35530571 19:35039667-35039667
30 SCN1B NM_001037.5(SCN1B): c.286C> T (p.Arg96Trp) single nucleotide variant Uncertain significance rs368388359 19:35524481-35524481 19:35033577-35033577
31 SCN1B NM_001037.5(SCN1B): c.29G> A (p.Gly10Asp) single nucleotide variant Uncertain significance rs1555720384 19:35521753-35521753 19:35030849-35030849
32 SCN1B NM_001037.5(SCN1B): c.448+337G> A single nucleotide variant Uncertain significance rs369032304 19:35524980-35524980 19:35034076-35034076
33 SCN1B NM_001037.5(SCN1B): c.310C> A (p.Leu104Met) single nucleotide variant Uncertain significance rs1555720733 19:35524505-35524505 19:35033601-35033601
34 SCN1B NM_001037.5(SCN1B): c.461T> C (p.Met154Thr) single nucleotide variant Uncertain significance rs1432198305 19:35530033-35530033 19:35039129-35039129
35 SCN1B NM_001037.5(SCN1B): c.415G> A (p.Val139Ile) single nucleotide variant Uncertain significance rs560827790 19:35524610-35524610 19:35033706-35033706
36 SCN1B NM_001037.5(SCN1B): c.448+226G> A single nucleotide variant Uncertain significance rs757396314 19:35524869-35524869 19:35033965-35033965
37 SCN1B NM_001037.5(SCN1B): c.448+151C> A single nucleotide variant Uncertain significance rs1060501167 19:35524794-35524794 19:35033890-35033890
38 SCN1B NM_001037.5(SCN1B): c.448+219C> G single nucleotide variant Uncertain significance rs754870200 19:35524862-35524862 19:35033958-35033958
39 SCN1B NM_001037.5(SCN1B): c.-93G> C single nucleotide variant Uncertain significance rs886054340 19:35521632-35521632 19:35030728-35030728
40 SCN1B NM_001037.5(SCN1B): c.-88A> C single nucleotide variant Uncertain significance rs886054341 19:35521637-35521637 19:35030733-35030733
41 SCN1B NM_001037.5(SCN1B): c.448+123C> T single nucleotide variant Uncertain significance rs771174760 19:35524766-35524766 19:35033862-35033862
42 SCN1B NM_001037.5(SCN1B): c.448+40G> A single nucleotide variant Uncertain significance rs199685662 19:35524683-35524683 19:35033779-35033779
43 SCN1B NM_001037.5(SCN1B): c.133C> T (p.Arg45Cys) single nucleotide variant Uncertain significance rs757554677 19:35523524-35523524 19:35032620-35032620
44 SCN1B NM_001037.5(SCN1B): c.449-3C> A single nucleotide variant Uncertain significance rs370937269 19:35530018-35530018 19:35039114-35039114
45 SCN1B NM_001037.5(SCN1B): c.448+61G> T single nucleotide variant Uncertain significance rs1555720788 19:35524704-35524704 19:35033800-35033800
46 SCN5A NM_000335.4(SCN5A): c.1535C> T (p.Thr512Ile) single nucleotide variant Uncertain significance rs199473118 3:38645558-38645558 3:38604067-38604067
47 SCN1B NM_001037.5(SCN1B): c.38T> C (p.Leu13Pro) single nucleotide variant Uncertain significance rs786205834 19:35521762-35521762 19:35030858-35030858
48 SCN1B NM_001037.5(SCN1B): c.134G> A (p.Arg45His) single nucleotide variant Uncertain significance rs180943300 19:35523525-35523525 19:35032621-35032621
49 SCN1B NM_001037.5(SCN1B): c.214C> T (p.Arg72Cys) single nucleotide variant Uncertain significance rs746782800 19:35524409-35524409 19:35033505-35033505
50 SCN1B NM_001037.5(SCN1B): c.266G> A (p.Arg89His) single nucleotide variant Uncertain significance rs138381632 19:35524461-35524461 19:35033557-35033557

Expression for Brugada Syndrome 5

Search GEO for disease gene expression data for Brugada Syndrome 5.

Pathways for Brugada Syndrome 5

Pathways related to Brugada Syndrome 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.96 SCN5A SCN1B
2 11.86 SCN5A SCN1B
3
Show member pathways
11.35 SCN5A SCN1B
4
Show member pathways
11.03 SCN5A SCN1B
5 10.7 SCN5A SCN1B
6 10.1 SCN5A SCN1B

GO Terms for Brugada Syndrome 5

Cellular components related to Brugada Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 9.16 SCN5A SCN1B
2 T-tubule GO:0030315 8.96 SCN5A SCN1B
3 voltage-gated sodium channel complex GO:0001518 8.62 SCN5A SCN1B

Biological processes related to Brugada Syndrome 5 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.51 SCN5A SCN1B
2 sodium ion transport GO:0006814 9.49 SCN5A SCN1B
3 sodium ion transmembrane transport GO:0035725 9.48 SCN5A SCN1B
4 cardiac muscle contraction GO:0060048 9.46 SCN5A SCN1B
5 regulation of heart rate by cardiac conduction GO:0086091 9.43 SCN5A SCN1B
6 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.4 SCN5A SCN1B
7 membrane depolarization GO:0051899 9.37 SCN5A SCN1B
8 positive regulation of sodium ion transport GO:0010765 9.32 SCN5A SCN1B
9 cardiac muscle cell action potential involved in contraction GO:0086002 9.26 SCN5A SCN1B
10 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.16 SCN5A SCN1B
11 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 8.96 SCN5A SCN1B
12 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 8.62 SCN5A SCN1B

Molecular functions related to Brugada Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.37 SCN5A SCN1B
2 voltage-gated ion channel activity GO:0005244 9.32 SCN5A SCN1B
3 sodium channel activity GO:0005272 9.26 SCN5A SCN1B
4 voltage-gated sodium channel activity GO:0005248 9.16 SCN5A SCN1B
5 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 8.96 SCN5A SCN1B
6 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 8.62 SCN5A SCN1B

Sources for Brugada Syndrome 5

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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