BRGDA5
MCID: BRG007
MIFTS: 32

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 58 12 76 30 13 6 74
Cardiac Conduction Defect, Nonspecific 58 30 6
Brgda5 58 12 76
Brugada Syndrome, Type 5 41

Characteristics:

HPO:

33
brugada syndrome 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110222
OMIM 58 612838
MeSH 45 D053840
ICD10 34 I49.8
MedGen 43 C2748541
UMLS 74 C2748541

Summaries for Brugada Syndrome 5

OMIM : 58 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 : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 bundle branch block 33 HP:0011710
2 ventricular fibrillation 33 HP:0001663
3 st segment elevation 33 HP:0012251

Clinical features from OMIM:

612838

GenomeRNAi Phenotypes related to Brugada Syndrome 5 according to GeneCards Suite gene sharing:

27 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.64 SCN1B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.64 SCN1B SCN5A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.64 SCN5A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.64 SCN5A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.64 SCN1B
6 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.64 SCN1B SCN5A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.64 SCN5A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.64 SCN1B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.64 SCN5A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.64 SCN5A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.64 SCN1B
12 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.64 SCN1B SCN5A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.64 SCN5A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.64 SCN1B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.64 SCN5A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.64 SCN5A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.64 SCN1B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.64 SCN1B

Drugs & Therapeutics for Brugada Syndrome 5

Search Clinical Trials , 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 30 SCN1B
2 Cardiac Conduction Defect, Nonspecific 30

Anatomical Context for Brugada Syndrome 5

MalaCards organs/tissues related to Brugada Syndrome 5:

42
Heart

Publications for Brugada Syndrome 5

Variations for Brugada Syndrome 5

ClinVar genetic disease variations for Brugada Syndrome 5:

6 (show top 50) (show all 194)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN1B NM_001037.4(SCN1B): c.412G> A (p.Val138Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72558029 GRCh38 Chromosome 19, 35033703: 35033703
2 SCN1B NM_001037.4(SCN1B): c.412G> A (p.Val138Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72558029 GRCh37 Chromosome 19, 35524607: 35524607
3 SCN1B NM_001037.4(SCN1B): c.448+112G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72558026 GRCh38 Chromosome 19, 35033851: 35033851
4 SCN1B NM_001037.4(SCN1B): c.448+112G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72558026 GRCh37 Chromosome 19, 35524755: 35524755
5 SCN1B NM_001037.4(SCN1B): c.23T> C (p.Val8Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs786205833 GRCh38 Chromosome 19, 35030843: 35030843
6 SCN1B NM_001037.4(SCN1B): c.23T> C (p.Val8Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs786205833 GRCh37 Chromosome 19, 35521747: 35521747
7 SCN1B NM_001037.4(SCN1B): c.28G> A (p.Gly10Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72552027 GRCh38 Chromosome 19, 35030848: 35030848
8 SCN1B NM_001037.4(SCN1B): c.28G> A (p.Gly10Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72552027 GRCh37 Chromosome 19, 35521752: 35521752
9 SCN1B NM_001037.4(SCN1B): c.38T> C (p.Leu13Pro) single nucleotide variant Uncertain significance rs786205834 GRCh38 Chromosome 19, 35030858: 35030858
10 SCN1B NM_001037.4(SCN1B): c.38T> C (p.Leu13Pro) single nucleotide variant Uncertain significance rs786205834 GRCh37 Chromosome 19, 35521762: 35521762
11 SCN1B NM_001037.4(SCN1B): c.134G> A (p.Arg45His) single nucleotide variant Uncertain significance rs180943300 GRCh37 Chromosome 19, 35523525: 35523525
12 SCN1B NM_001037.4(SCN1B): c.134G> A (p.Arg45His) single nucleotide variant Uncertain significance rs180943300 GRCh38 Chromosome 19, 35032621: 35032621
13 SCN1B NM_001037.4(SCN1B): c.214C> T (p.Arg72Cys) single nucleotide variant Uncertain significance rs746782800 GRCh38 Chromosome 19, 35033505: 35033505
14 SCN1B NM_001037.4(SCN1B): c.214C> T (p.Arg72Cys) single nucleotide variant Uncertain significance rs746782800 GRCh37 Chromosome 19, 35524409: 35524409
15 SCN1B NM_001037.4(SCN1B): c.266G> A (p.Arg89His) single nucleotide variant Uncertain significance rs138381632 GRCh38 Chromosome 19, 35033557: 35033557
16 SCN1B NM_001037.4(SCN1B): c.266G> A (p.Arg89His) single nucleotide variant Uncertain significance rs138381632 GRCh37 Chromosome 19, 35524461: 35524461
17 SCN1B NM_001037.4(SCN1B): c.374G> A (p.Arg125His) single nucleotide variant Uncertain significance rs759839781 GRCh38 Chromosome 19, 35033665: 35033665
18 SCN1B NM_001037.4(SCN1B): c.374G> A (p.Arg125His) single nucleotide variant Uncertain significance rs759839781 GRCh37 Chromosome 19, 35524569: 35524569
19 SCN1B NM_001037.4(SCN1B): c.448+45G> A single nucleotide variant Uncertain significance rs762453360 GRCh38 Chromosome 19, 35033784: 35033784
20 SCN1B NM_001037.4(SCN1B): c.448+45G> A single nucleotide variant Uncertain significance rs762453360 GRCh37 Chromosome 19, 35524688: 35524688
21 SCN1B NM_001037.4(SCN1B): c.448+144A> G single nucleotide variant Uncertain significance rs763402433 GRCh38 Chromosome 19, 35033883: 35033883
22 SCN1B NM_001037.4(SCN1B): c.448+144A> G single nucleotide variant Uncertain significance rs763402433 GRCh37 Chromosome 19, 35524787: 35524787
23 SCN1B NM_001037.4(SCN1B): c.448+193G> A single nucleotide variant Conflicting interpretations of pathogenicity rs66876876 GRCh38 Chromosome 19, 35033932: 35033932
24 SCN1B NM_001037.4(SCN1B): c.448+193G> A single nucleotide variant Conflicting interpretations of pathogenicity rs66876876 GRCh37 Chromosome 19, 35524836: 35524836
25 SCN1B NM_001037.4(SCN1B): c.448+230C> T single nucleotide variant Benign/Likely benign rs769132369 GRCh38 Chromosome 19, 35033969: 35033969
26 SCN1B NM_001037.4(SCN1B): c.448+230C> T single nucleotide variant Benign/Likely benign rs769132369 GRCh37 Chromosome 19, 35524873: 35524873
27 SCN1B NM_199037.4(SCN1B): c.769G> A (p.Gly257Arg) single nucleotide variant Benign/Likely benign rs72558028 GRCh38 Chromosome 19, 35034060: 35034060
28 SCN1B NM_199037.4(SCN1B): c.769G> A (p.Gly257Arg) single nucleotide variant Benign/Likely benign rs72558028 GRCh37 Chromosome 19, 35524964: 35524964
29 SCN1B NM_001037.4(SCN1B): c.448+345C> T single nucleotide variant Conflicting interpretations of pathogenicity rs754815235 GRCh38 Chromosome 19, 35034084: 35034084
30 SCN1B NM_001037.4(SCN1B): c.448+345C> T single nucleotide variant Conflicting interpretations of pathogenicity rs754815235 GRCh37 Chromosome 19, 35524988: 35524988
31 SCN1B NM_001037.4(SCN1B): c.492T> C (p.Tyr164=) single nucleotide variant Benign rs535042320 GRCh38 Chromosome 19, 35039160: 35039160
32 SCN1B NM_001037.4(SCN1B): c.492T> C (p.Tyr164=) single nucleotide variant Benign rs535042320 GRCh37 Chromosome 19, 35530064: 35530064
33 SCN1B NM_001037.4(SCN1B): c.523G> A (p.Val175Met) single nucleotide variant Uncertain significance rs776213428 GRCh38 Chromosome 19, 35039191: 35039191
34 SCN1B NM_001037.4(SCN1B): c.523G> A (p.Val175Met) single nucleotide variant Uncertain significance rs776213428 GRCh37 Chromosome 19, 35530095: 35530095
35 SCN1B NM_001037.4(SCN1B): c.590C> T (p.Ala197Val) single nucleotide variant Uncertain significance rs554201948 GRCh38 Chromosome 19, 35039258: 35039258
36 SCN1B NM_001037.4(SCN1B): c.590C> T (p.Ala197Val) single nucleotide variant Uncertain significance rs554201948 GRCh37 Chromosome 19, 35530162: 35530162
37 SCN1B NM_001037.4(SCN1B): c.632G> A (p.Cys211Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs150721582 GRCh38 Chromosome 19, 35039676: 35039676
38 SCN1B NM_001037.4(SCN1B): c.632G> A (p.Cys211Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs150721582 GRCh37 Chromosome 19, 35530580: 35530580
39 SCN1B NM_001037.4(SCN1B): c.638G> A (p.Gly213Asp) single nucleotide variant Uncertain significance rs201209882 GRCh38 Chromosome 19, 35039682: 35039682
40 SCN1B NM_001037.4(SCN1B): c.638G> A (p.Gly213Asp) single nucleotide variant Uncertain significance rs201209882 GRCh37 Chromosome 19, 35530586: 35530586
41 SCN1B NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 GRCh37 Chromosome 19, 35524558: 35524558
42 SCN1B NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 GRCh38 Chromosome 19, 35033654: 35033654
43 SCN1B NM_001037.4(SCN1B): c.448+88G> A single nucleotide variant Pathogenic rs267607028 GRCh37 Chromosome 19, 35524731: 35524731
44 SCN1B NM_001037.4(SCN1B): c.448+88G> A single nucleotide variant Pathogenic rs267607028 GRCh38 Chromosome 19, 35033827: 35033827
45 SCN1B NM_001037.4(SCN1B): c.259G> C (p.Glu87Gln) single nucleotide variant Pathogenic rs121434627 GRCh37 Chromosome 19, 35524454: 35524454
46 SCN1B NM_001037.4(SCN1B): c.259G> C (p.Glu87Gln) single nucleotide variant Pathogenic rs121434627 GRCh38 Chromosome 19, 35033550: 35033550
47 SCN1B NM_199037.4(SCN1B): c.537G> A (p.Trp179Ter) single nucleotide variant Pathogenic rs267607029 GRCh37 Chromosome 19, 35524732: 35524732
48 SCN1B NM_199037.4(SCN1B): c.537G> A (p.Trp179Ter) single nucleotide variant Pathogenic rs267607029 GRCh38 Chromosome 19, 35033828: 35033828
49 SCN5A NM_000335.4(SCN5A): c.1540G> T (p.Gly514Cys) single nucleotide variant Pathogenic rs137854606 GRCh37 Chromosome 3, 38645553: 38645553
50 SCN5A NM_000335.4(SCN5A): c.1540G> T (p.Gly514Cys) single nucleotide variant Pathogenic rs137854606 GRCh38 Chromosome 3, 38604062: 38604062

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 SCN1B SCN5A
2 11.86 SCN1B SCN5A
3
Show member pathways
11.35 SCN1B SCN5A
4
Show member pathways
11.03 SCN1B SCN5A
5 10.7 SCN1B SCN5A
6 10.1 SCN1B SCN5A

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 SCN1B SCN5A
2 T-tubule GO:0030315 8.96 SCN1B SCN5A
3 voltage-gated sodium channel complex GO:0001518 8.62 SCN1B SCN5A

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

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 SCN1B SCN5A
2 voltage-gated ion channel activity GO:0005244 9.32 SCN1B SCN5A
3 sodium channel activity GO:0005272 9.26 SCN1B SCN5A
4 voltage-gated sodium channel activity GO:0005248 9.16 SCN1B SCN5A
5 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 8.96 SCN1B SCN5A
6 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 8.62 SCN1B SCN5A

Sources for Brugada Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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