BRGDA5
MCID: BRG007
MIFTS: 39

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 56 12 73 29 13 6 15 71
Cardiac Conduction Defect, Nonspecific 56 29 6
Brgda5 56 12 73
Syndrome, Brugada, Type 5 39

Characteristics:

HPO:

31
brugada syndrome 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110222
OMIM 56 612838
OMIM Phenotypic Series 56 PS601144
MeSH 43 D053840
ICD10 32 I49.8
MedGen 41 C2748541
UMLS 71 C2748541

Summaries for Brugada Syndrome 5

OMIM : 56 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 long qt syndrome 3 and paramyotonia congenita of von eulenburg. An important gene associated with Brugada Syndrome 5 is SCN1B (Sodium Voltage-Gated Channel Beta Subunit 1), and among its related pathways/superpathways are Herpes simplex virus 1 infection and Interaction between L1 and Ankyrins. 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 : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 bundle branch block 31 HP:0011710
2 ventricular fibrillation 31 HP:0001663
3 st segment elevation 31 HP:0012251

Clinical features from OMIM:

612838

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.32 EMC1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.32 ZNF181
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-12 9.32 SCN5A
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 9.32 ZNF181
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.32 ZNF181
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.32 SCN1B
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-146 9.32 SCN5A
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.32 ZNF181
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-215 9.32 EMC1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.32 ZNF181

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:

40
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. 6 56
18464934 2008
2
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
3
Brugada Syndrome 6
20301690 2005
4
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 56
15655131 2005
5
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 6
14523039 2003
6
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 6
11748104 2001
7
Significance of automated external defibrillator in identifying lethal ventricular arrhythmias. 61
31297625 2019
8
Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study). 61
26189708 2015

Variations for Brugada Syndrome 5

ClinVar genetic disease variations for Brugada Syndrome 5:

6 (show top 50) (show all 152) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN1B NM_001037.5(SCN1B):c.259G>C (p.Glu87Gln)SNV Pathogenic 9255 rs121434627 19:35524454-35524454 19:35033550-35033550
2 SCN1B NM_001037.5(SCN1B):c.448+89G>ASNV Pathogenic 9256 rs267607029 19:35524732-35524732 19:35033828-35033828
3 SCN5A NM_000335.4(SCN5A):c.1540G>T (p.Gly514Cys)SNV Pathogenic 9386 rs137854606 3:38645553-38645553 3:38604062-38604062
4 SCN5A NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg)SNV Pathogenic 9395 rs137854612 3:38601661-38601661 3:38560170-38560170
5 SCN1B NM_001037.5(SCN1B):c.254G>A (p.Arg85His)SNV Pathogenic 60767 rs16969925 19:35524449-35524449 19:35033545-35033545
6 SCN1B NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)SNV Pathogenic/Likely pathogenic 9252 rs104894718 19:35524558-35524558 19:35033654-35033654
7 SCN5A NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp)SNV Pathogenic/Likely pathogenic 68032 rs199473072 3:38655264-38655264 3:38613773-38613773
8 LMNA NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly)indel Likely pathogenic 222695 rs869025458 1:156085063-156085064 1:156115272-156115273
9 SCN1B NM_001037.5(SCN1B):c.5+7C>TSNV Conflicting interpretations of pathogenicity 257219 rs28365106 19:35530617-35530617 19:35039713-35039713
10 SCN1B NM_001037.5(SCN1B):c.273G>A (p.Val91=)SNV Conflicting interpretations of pathogenicity 282734 rs16969926 19:35524468-35524468 19:35033564-35033564
11 SCN1B NM_001037.5(SCN1B):c.448+295G>TSNV Conflicting interpretations of pathogenicity 190849 rs786205828 19:35524938-35524938 19:35034034-35034034
12 SCN1B NM_001037.5(SCN1B):c.448+345C>TSNV Conflicting interpretations of pathogenicity 190866 rs754815235 19:35524988-35524988 19:35034084-35034084
13 SCN1B NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)SNV Conflicting interpretations of pathogenicity 190877 rs150721582 19:35530580-35530580 19:35039676-35039676
14 SCN5A NM_198056.2(SCN5A):c.689T>C (p.Ile230Thr)SNV Conflicting interpretations of pathogenicity 68036 rs199473073 3:38655248-38655248 3:38613757-38613757
15 SCN5A NM_198056.2(SCN5A):c.4895G>A (p.Arg1632His)SNV Conflicting interpretations of pathogenicity 67939 rs199473286 3:38592968-38592968 3:38551477-38551477
16 SCN1B NM_001037.5(SCN1B):c.448+112G>ASNV Conflicting interpretations of pathogenicity 180509 rs72558026 19:35524755-35524755 19:35033851-35033851
17 SCN1B NM_001037.5(SCN1B):c.23T>C (p.Val8Ala)SNV Conflicting interpretations of pathogenicity 190868 rs786205833 19:35521747-35521747 19:35030843-35030843
18 SCN1B NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)SNV Conflicting interpretations of pathogenicity 190869 rs72552027 19:35521752-35521752 19:35030848-35030848
19 SCN1B NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)SNV Conflicting interpretations of pathogenicity 190859 rs786205830 19:35524448-35524448 19:35033544-35033544
20 SCN1B NM_001037.5(SCN1B):c.448+189C>ASNV Conflicting interpretations of pathogenicity 190846 rs766373298 19:35524832-35524832 19:35033928-35033928
21 SCN1B NM_001037.5(SCN1B):c.448+193G>ASNV Conflicting interpretations of pathogenicity 190847 rs66876876 19:35524836-35524836 19:35033932-35033932
22 SCN1B NM_001037.5(SCN1B):c.448+88G>ASNV Conflicting interpretations of pathogenicity 9254 rs267607028 19:35524731-35524731 19:35033827-35033827
23 SCN1B NM_001037.5(SCN1B):c.255C>G (p.Arg85=)SNV Conflicting interpretations of pathogenicity 406502 rs1060501166 19:35524450-35524450 19:35033546-35033546
24 SCN1B NM_001037.5(SCN1B):c.448+111C>TSNV Conflicting interpretations of pathogenicity 406500 rs758654948 19:35524754-35524754 19:35033850-35033850
25 SCN1B NM_001037.5(SCN1B):c.448+337G>ASNV Conflicting interpretations of pathogenicity 503742 rs369032304 19:35524980-35524980 19:35034076-35034076
26 SCN1B NM_001037.5(SCN1B):c.-31G>ASNV Conflicting interpretations of pathogenicity 516623 rs776361009 19:35521694-35521694 19:35030790-35030790
27 SCN1B NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln)SNV Conflicting interpretations of pathogenicity 889314 19:35524482-35524482 19:35033578-35033578
28 SCN1B NM_001037.5(SCN1B):c.636G>A (p.Thr212=)SNV Conflicting interpretations of pathogenicity 890000 19:35530584-35530584 19:35039680-35039680
29 SCN1B NM_001037.5(SCN1B):c.*377C>TSNV Conflicting interpretations of pathogenicity 889375 19:35531072-35531072 19:35040168-35040168
30 SCN1B NM_001037.5(SCN1B):c.*378G>ASNV Uncertain significance 889376 19:35531073-35531073 19:35040169-35040169
31 SCN1B NM_001037.5(SCN1B):c.*50C>TSNV Uncertain significance 891557 19:35530745-35530745 19:35039841-35039841
32 SCN1B NM_001037.5(SCN1B):c.*464C>GSNV Uncertain significance 890065 19:35531159-35531159 19:35040255-35040255
33 SCN1B NM_001037.5(SCN1B):c.*486C>TSNV Uncertain significance 890066 19:35531181-35531181 19:35040277-35040277
34 SCN1B NM_001037.5(SCN1B):c.*553C>TSNV Uncertain significance 891612 19:35531248-35531248 19:35040344-35040344
35 SCN1B NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys)SNV Uncertain significance 816882 19:35524460-35524460 19:35033556-35033556
36 SCN1B NM_001037.5(SCN1B):c.178C>T (p.Arg60Cys)SNV Uncertain significance 854719 19:35523569-35523569 19:35032665-35032665
37 SCN1B NM_001037.5(SCN1B):c.179G>A (p.Arg60His)SNV Uncertain significance 860826 19:35523570-35523570 19:35032666-35032666
38 SCN1B NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys)SNV Uncertain significance 852686 19:35524445-35524445 19:35033541-35033541
39 SCN1B NM_001037.5(SCN1B):c.338A>G (p.Tyr113Cys)SNV Uncertain significance 858574 19:35524533-35524533 19:35033629-35033629
40 SCN1B NM_001037.5(SCN1B):c.388G>A (p.Glu130Lys)SNV Uncertain significance 864391 19:35524583-35524583 19:35033679-35033679
41 SCN1B NM_001037.5(SCN1B):c.448+7C>GSNV Uncertain significance 835362 19:35524650-35524650 19:35033746-35033746
42 SCN1B NM_001037.5(SCN1B):c.448+187G>ASNV Uncertain significance 851719 19:35524830-35524830 19:35033926-35033926
43 SCN1B NM_001037.5(SCN1B):c.448+244A>TSNV Uncertain significance 863442 19:35524887-35524887 19:35033983-35033983
44 SCN1B NM_001037.5(SCN1B):c.448+295_448+296delinsAAindel Uncertain significance 847672 19:35524938-35524939 19:35034034-35034035
45 SCN1B NM_001037.5(SCN1B):c.448+310T>CSNV Uncertain significance 841112 19:35524953-35524953 19:35034049-35034049
46 SCN1B NM_001037.5(SCN1B):c.448+320C>ASNV Uncertain significance 843609 19:35524963-35524963 19:35034059-35034059
47 SCN1B NM_001037.5(SCN1B):c.448+348G>TSNV Uncertain significance 834497 19:35524991-35524991 19:35034087-35034087
48 SCN1B NM_001037.5(SCN1B):c.207+1G>ASNV Uncertain significance 855779 19:35523599-35523599 19:35032695-35032695
49 SCN1B NM_001037.5(SCN1B):c.40+1_40+50deldeletion Uncertain significance 839639 19:35521757-35521806 19:35030853-35030902
50 SCN1B NM_001037.5(SCN1B):c.-123A>TSNV Uncertain significance 889254 19:35521602-35521602 19:35030698-35030698

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 11.95 ZNF599 ZNF302 ZNF30 ZNF181
2 10.63 SCN5A SCN1B
3 10.55 SCN5A SCN1B KCND3

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 T-tubule GO:0030315 9.16 SCN5A SCN1B
2 intercalated disc GO:0014704 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 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.61 SCN5A SCN1B KCND3
2 cardiac muscle contraction GO:0060048 9.49 SCN5A SCN1B
3 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.48 SCN5A SCN1B
4 membrane depolarization GO:0051899 9.46 SCN5A SCN1B
5 cardiac muscle cell action potential involved in contraction GO:0086002 9.4 SCN5A SCN1B
6 positive regulation of sodium ion transport GO:0010765 9.37 SCN5A SCN1B
7 cardiac conduction GO:0061337 9.33 SCN5A SCN1B KCND3
8 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.32 SCN5A SCN1B
9 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.26 SCN5A SCN1B
10 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 8.96 SCN5A SCN1B
11 regulation of heart rate by cardiac conduction GO:0086091 8.8 SCN5A SCN1B KCND3

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.43 SCN5A SCN1B KCND3
2 sodium channel activity GO:0005272 9.37 SCN5A SCN1B
3 ion channel binding GO:0044325 9.33 SCN5A SCN1B KCND3
4 voltage-gated sodium channel activity GO:0005248 9.32 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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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