BRGDA5
MCID: BRG007
MIFTS: 31

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
Brgda5 58 12 76
Cardiac Conduction Defect, Nonspecific 58 6
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 brgda5, 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

Anatomical Context for Brugada Syndrome 5

MalaCards organs/tissues related to Brugada Syndrome 5:

42
Heart

Publications for Brugada Syndrome 5

Articles related to Brugada Syndrome 5:

# Title Authors Year
1
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. ( 18464934 )
2008
2
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). ( 14523039 )
2003
3
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. ( 11748104 )
2001

Variations for Brugada Syndrome 5

ClinVar genetic disease variations for Brugada Syndrome 5:

6 (show top 50) (show all 196)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN1B NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 GRCh37 Chromosome 19, 35524558: 35524558
2 SCN1B NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 GRCh38 Chromosome 19, 35033654: 35033654
3 SCN1B NM_001037.4(SCN1B): c.448+88G> A single nucleotide variant Pathogenic rs267607028 GRCh37 Chromosome 19, 35524731: 35524731
4 SCN1B NM_001037.4(SCN1B): c.448+88G> A single nucleotide variant Pathogenic rs267607028 GRCh38 Chromosome 19, 35033827: 35033827
5 SCN1B NM_001037.4(SCN1B): c.259G> C (p.Glu87Gln) single nucleotide variant Pathogenic rs121434627 GRCh37 Chromosome 19, 35524454: 35524454
6 SCN1B NM_001037.4(SCN1B): c.259G> C (p.Glu87Gln) single nucleotide variant Pathogenic rs121434627 GRCh38 Chromosome 19, 35033550: 35033550
7 SCN1B NM_199037.4(SCN1B): c.537G> A (p.Trp179Ter) single nucleotide variant Pathogenic rs267607029 GRCh37 Chromosome 19, 35524732: 35524732
8 SCN1B NM_199037.4(SCN1B): c.537G> A (p.Trp179Ter) single nucleotide variant Pathogenic rs267607029 GRCh38 Chromosome 19, 35033828: 35033828
9 SCN5A NM_000335.4(SCN5A): c.1540G> T (p.Gly514Cys) single nucleotide variant Pathogenic rs137854606 GRCh37 Chromosome 3, 38645553: 38645553
10 SCN5A NM_000335.4(SCN5A): c.1540G> T (p.Gly514Cys) single nucleotide variant Pathogenic rs137854606 GRCh38 Chromosome 3, 38604062: 38604062
11 SCN5A NM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg) single nucleotide variant Pathogenic rs137854612 GRCh37 Chromosome 3, 38601661: 38601661
12 SCN5A NM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg) single nucleotide variant Pathogenic rs137854612 GRCh38 Chromosome 3, 38560170: 38560170
13 SCN5A NM_198056.2(SCN5A): c.1535C> T (p.Thr512Ile) single nucleotide variant Uncertain significance rs199473118 GRCh37 Chromosome 3, 38645558: 38645558
14 SCN5A NM_198056.2(SCN5A): c.1535C> T (p.Thr512Ile) single nucleotide variant Uncertain significance rs199473118 GRCh38 Chromosome 3, 38604067: 38604067
15 SCN1B NM_001037.4(SCN1B): c.254G> A (p.Arg85His) single nucleotide variant Pathogenic rs16969925 GRCh37 Chromosome 19, 35524449: 35524449
16 SCN1B NM_001037.4(SCN1B): c.254G> A (p.Arg85His) single nucleotide variant Pathogenic rs16969925 GRCh38 Chromosome 19, 35033545: 35033545
17 SCN5A NM_000335.4(SCN5A): c.3022C> T (p.Pro1008Ser) single nucleotide variant not provided rs199473184 GRCh37 Chromosome 3, 38622628: 38622628
18 SCN5A NM_000335.4(SCN5A): c.3022C> T (p.Pro1008Ser) single nucleotide variant not provided rs199473184 GRCh38 Chromosome 3, 38581137: 38581137
19 SCN5A NM_000335.4(SCN5A): c.4856C> A (p.Thr1619Lys) single nucleotide variant not provided rs199473282 GRCh37 Chromosome 3, 38593004: 38593004
20 SCN5A NM_000335.4(SCN5A): c.4856C> A (p.Thr1619Lys) single nucleotide variant not provided rs199473282 GRCh38 Chromosome 3, 38551513: 38551513
21 SCN5A NM_198056.2(SCN5A): c.4895G> A (p.Arg1632His) single nucleotide variant Conflicting interpretations of pathogenicity rs199473286 GRCh37 Chromosome 3, 38592968: 38592968
22 SCN5A NM_198056.2(SCN5A): c.4895G> A (p.Arg1632His) single nucleotide variant Conflicting interpretations of pathogenicity rs199473286 GRCh38 Chromosome 3, 38551477: 38551477
23 SCN5A NM_000335.4(SCN5A): c.673C> T (p.Arg225Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199473072 GRCh37 Chromosome 3, 38655264: 38655264
24 SCN5A NM_000335.4(SCN5A): c.673C> T (p.Arg225Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199473072 GRCh38 Chromosome 3, 38613773: 38613773
25 SCN5A NM_198056.2(SCN5A): c.689T> C (p.Ile230Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199473073 GRCh37 Chromosome 3, 38655248: 38655248
26 SCN5A NM_198056.2(SCN5A): c.689T> C (p.Ile230Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199473073 GRCh38 Chromosome 3, 38613757: 38613757
27 SCN1B NM_001037.4(SCN1B): c.40+15G> T single nucleotide variant Benign rs72556351 GRCh37 Chromosome 19, 35521779: 35521779
28 SCN1B NM_001037.4(SCN1B): c.40+15G> T single nucleotide variant Benign rs72556351 GRCh38 Chromosome 19, 35030875: 35030875
29 SCN1B NM_001037.4(SCN1B): c.501T> C (p.Ile167=) single nucleotide variant Benign/Likely benign rs16969930 GRCh37 Chromosome 19, 35530073: 35530073
30 SCN1B NM_001037.4(SCN1B): c.501T> C (p.Ile167=) single nucleotide variant Benign/Likely benign rs16969930 GRCh38 Chromosome 19, 35039169: 35039169
31 SCN1B NM_001037.4(SCN1B): c.207+14G> A single nucleotide variant Benign/Likely benign rs16969924 GRCh38 Chromosome 19, 35032708: 35032708
32 SCN1B NM_001037.4(SCN1B): c.207+14G> A single nucleotide variant Benign/Likely benign rs16969924 GRCh37 Chromosome 19, 35523612: 35523612
33 SCN1B NM_001037.4(SCN1B): c.267C> T (p.Arg89=) single nucleotide variant Benign/Likely benign rs140949982 GRCh38 Chromosome 19, 35033558: 35033558
34 SCN1B NM_001037.4(SCN1B): c.267C> T (p.Arg89=) single nucleotide variant Benign/Likely benign rs140949982 GRCh37 Chromosome 19, 35524462: 35524462
35 SCN1B NM_001037.4(SCN1B): c.300C> T (p.Asp100=) single nucleotide variant Benign rs16969927 GRCh38 Chromosome 19, 35033591: 35033591
36 SCN1B NM_001037.4(SCN1B): c.300C> T (p.Asp100=) single nucleotide variant Benign rs16969927 GRCh37 Chromosome 19, 35524495: 35524495
37 SCN1B NM_001037.4(SCN1B): c.351C> T (p.Gly117=) single nucleotide variant Benign/Likely benign rs3746255 GRCh38 Chromosome 19, 35033642: 35033642
38 SCN1B NM_001037.4(SCN1B): c.351C> T (p.Gly117=) single nucleotide variant Benign/Likely benign rs3746255 GRCh37 Chromosome 19, 35524546: 35524546
39 SCN1B NM_001037.4(SCN1B): c.448+8G> C single nucleotide variant Benign/Likely benign rs200222933 GRCh38 Chromosome 19, 35033747: 35033747
40 SCN1B NM_001037.4(SCN1B): c.448+8G> C single nucleotide variant Benign/Likely benign rs200222933 GRCh37 Chromosome 19, 35524651: 35524651
41 SCN1B NM_001037.4(SCN1B): c.448+29C> T single nucleotide variant Benign rs186759145 GRCh38 Chromosome 19, 35033768: 35033768
42 SCN1B NM_001037.4(SCN1B): c.448+29C> T single nucleotide variant Benign rs186759145 GRCh37 Chromosome 19, 35524672: 35524672
43 SCN1B NM_001037.4(SCN1B): c.448+301G> A single nucleotide variant Benign rs67486287 GRCh38 Chromosome 19, 35034040: 35034040
44 SCN1B NM_001037.4(SCN1B): c.448+301G> A single nucleotide variant Benign rs67486287 GRCh37 Chromosome 19, 35524944: 35524944
45 SCN1B NM_001037.4(SCN1B): c.-9C> A single nucleotide variant Benign/Likely benign rs66671189 GRCh38 Chromosome 19, 35030812: 35030812
46 SCN1B NM_001037.4(SCN1B): c.-9C> A single nucleotide variant Benign/Likely benign rs66671189 GRCh37 Chromosome 19, 35521716: 35521716
47 SCN1B NM_001037.4(SCN1B): c.561C> T (p.Ala187=) single nucleotide variant Conflicting interpretations of pathogenicity rs587781152 GRCh38 Chromosome 19, 35039229: 35039229
48 SCN1B NM_001037.4(SCN1B): c.561C> T (p.Ala187=) single nucleotide variant Conflicting interpretations of pathogenicity rs587781152 GRCh37 Chromosome 19, 35530133: 35530133
49 SCN1B NM_001037.4(SCN1B): c.588T> C (p.Asn196=) single nucleotide variant Benign/Likely benign rs77244433 GRCh38 Chromosome 19, 35039256: 35039256
50 SCN1B NM_001037.4(SCN1B): c.588T> C (p.Asn196=) single nucleotide variant Benign/Likely benign rs77244433 GRCh37 Chromosome 19, 35530160: 35530160

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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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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