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
Brugada Syndrome, 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 cardiac conduction defect and third-degree atrioventricular block. 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

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

(show all 24)
# Related Disease Score Top Affiliating Genes
1 cardiac conduction defect 10.3 SCN5A SCN1B
2 third-degree atrioventricular block 10.3 SCN5A SCN1B
3 sinoatrial node disease 10.2 SCN5A SCN1B
4 long qt syndrome 3 10.2 SCN5A SCN1B
5 arthrogryposis multiplex congenita, neurogenic type 10.1 ZNF30 ZNF181
6 brugada syndrome 9 10.1 SCN5A KCND3
7 progressive familial heart block 10.1 SCN5A SCN1B
8 sick sinus syndrome 10.0 SCN5A SCN1B
9 brugada syndrome 10.0 SCN5A SCN1B KCND3
10 right bundle branch block 9.9 SCN5A SCN1B KCND3
11 long qt syndrome 2 9.9 SCN5A SCN1B KCND3
12 long qt syndrome 9.9 SCN5A SCN1B KCND3
13 short qt syndrome 9.9 SCN5A SCN1B KCND3
14 heart conduction disease 9.9 SCN5A SCN1B KCND3
15 catecholaminergic polymorphic ventricular tachycardia 9.9 SCN5A SCN1B KCND3
16 mitochondrial dna depletion syndrome 13 9.9 TANGO2 GSPT2
17 long qt syndrome 1 9.9 SCN5A SCN1B KCND3
18 cardiac arrhythmia 9.9 TANGO2 SCN5A
19 familial atrial fibrillation 9.8 SCN5A SCN1B KCND3
20 atrial fibrillation 9.8 SCN5A SCN1B KCND3
21 chromosome 19q13.11 deletion syndrome 9.7 ZNF599 ZNF302 ZNF30 ZNF181
22 myasthenic syndrome, congenital, 5 9.7 SCN5A KCND3
23 visual epilepsy 9.6 TANGO2 SCN1B GSPT2
24 leukodystrophy, hypomyelinating, 11 9.3 TANGO2 GSPT2 EMC1

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 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.58 SCN1B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.58 EMC1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.58 SCN1B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.58 EMC1 SCN1B SCN5A ZNF181
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.58 SCN5A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.58 EMC1 SCN5A ZNF181
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.58 SCN1B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.58 ZNF181
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.58 SCN1B
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.58 ZNF181
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.58 EMC1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.58 SCN5A
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.58 EMC1

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. 56 6
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 86) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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_198056.2(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_198056.2(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.448+193G>ASNV Conflicting interpretations of pathogenicity 190847 rs66876876 19:35524836-35524836 19:35033932-35033932
10 SCN1B NM_001037.5(SCN1B):c.448+88G>ASNV Conflicting interpretations of pathogenicity 9254 rs267607028 19:35524731-35524731 19:35033827-35033827
11 SCN1B NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)SNV Conflicting interpretations of pathogenicity 180508 rs72558029 19:35524607-35524607 19:35033703-35033703
12 SCN1B NM_001037.5(SCN1B):c.23T>C (p.Val8Ala)SNV Conflicting interpretations of pathogenicity 190868 rs786205833 19:35521747-35521747 19:35030843-35030843
13 SCN1B NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)SNV Conflicting interpretations of pathogenicity 190869 rs72552027 19:35521752-35521752 19:35030848-35030848
14 SCN1B NM_001037.5(SCN1B):c.448+295G>TSNV Conflicting interpretations of pathogenicity 190849 rs786205828 19:35524938-35524938 19:35034034-35034034
15 SCN1B NM_001037.5(SCN1B):c.448+321G>ASNV Conflicting interpretations of pathogenicity 190850 rs72558028 19:35524964-35524964 19:35034060-35034060
16 SCN1B NM_001037.5(SCN1B):c.448+345C>TSNV Conflicting interpretations of pathogenicity 190866 rs754815235 19:35524988-35524988 19:35034084-35034084
17 SCN5A NM_198056.2(SCN5A):c.689T>C (p.Ile230Thr)SNV Conflicting interpretations of pathogenicity 68036 rs199473073 3:38655248-38655248 3:38613757-38613757
18 SCN5A NM_198056.2(SCN5A):c.4895G>A (p.Arg1632His)SNV Conflicting interpretations of pathogenicity 67939 rs199473286 3:38592968-38592968 3:38551477-38551477
19 SCN1B NM_001037.5(SCN1B):c.273G>A (p.Val91=)SNV Conflicting interpretations of pathogenicity 282734 rs16969926 19:35524468-35524468 19:35033564-35033564
20 SCN1B NM_001037.5(SCN1B):c.255C>G (p.Arg85=)SNV Conflicting interpretations of pathogenicity 406502 rs1060501166 19:35524450-35524450 19:35033546-35033546
21 SCN1B NM_001037.5(SCN1B):c.448+111C>TSNV Conflicting interpretations of pathogenicity 406500 rs758654948 19:35524754-35524754 19:35033850-35033850
22 SCN1B NM_001037.5(SCN1B):c.133C>T (p.Arg45Cys)SNV Uncertain significance 436652 rs757554677 19:35523524-35523524 19:35032620-35032620
23 SCN1B NM_001037.5(SCN1B):c.449-3C>ASNV Uncertain significance 448260 rs370937269 19:35530018-35530018 19:35039114-35039114
24 SCN1B NM_001037.5(SCN1B):c.448+61G>TSNV Uncertain significance 470179 rs1555720788 19:35524704-35524704 19:35033800-35033800
25 SCN1B NM_001037.5(SCN1B):c.448+151C>ASNV Uncertain significance 406504 rs1060501167 19:35524794-35524794 19:35033890-35033890
26 SCN1B NM_001037.5(SCN1B):c.448+40G>ASNV Uncertain significance 406499 rs199685662 19:35524683-35524683 19:35033779-35033779
27 SCN1B NM_001037.5(SCN1B):c.448+225C>TSNV Uncertain significance 242250 rs369588692 19:35524868-35524868 19:35033964-35033964
28 SCN1B NM_001037.5(SCN1B):c.448+123C>TSNV Uncertain significance 406503 rs771174760 19:35524766-35524766 19:35033862-35033862
29 SCN1B NM_001037.5(SCN1B):c.150C>T (p.Asn50=)SNV Uncertain significance 328834 rs147073518 19:35523541-35523541 19:35032637-35032637
30 SCN1B NM_001037.5(SCN1B):c.-93G>CSNV Uncertain significance 328831 rs886054340 19:35521632-35521632 19:35030728-35030728
31 SCN1B NM_001037.5(SCN1B):c.-88A>CSNV Uncertain significance 328832 rs886054341 19:35521637-35521637 19:35030733-35030733
32 SCN1B NM_001037.5(SCN1B):c.268G>A (p.Val90Met)SNV Uncertain significance 284541 rs778461222 19:35524463-35524463 19:35033559-35033559
33 SCN1B NM_001037.5(SCN1B):c.-132C>GSNV Uncertain significance 328829 rs886054339 19:35521593-35521593 19:35030689-35030689
34 SCN1B NM_001037.5(SCN1B):c.136C>T (p.Arg46Cys)SNV Uncertain significance 470176 rs371646049 19:35523527-35523527 19:35032623-35032623
35 SCN1B NM_001037.5(SCN1B):c.448+192C>TSNV Uncertain significance 470182 rs72558027 19:35524835-35524835 19:35033931-35033931
36 SCN1B NM_001037.5(SCN1B):c.448+252C>TSNV Uncertain significance 470184 rs374235844 19:35524895-35524895 19:35033991-35033991
37 SCN1B NM_001037.5(SCN1B):c.623A>T (p.Lys208Ile)SNV Uncertain significance 470174 rs780958012 19:35530571-35530571 19:35039667-35039667
38 SCN1B NM_001037.5(SCN1B):c.286C>T (p.Arg96Trp)SNV Uncertain significance 470177 rs368388359 19:35524481-35524481 19:35033577-35033577
39 SCN1B NM_001037.5(SCN1B):c.29G>A (p.Gly10Asp)SNV Uncertain significance 470178 rs1555720384 19:35521753-35521753 19:35030849-35030849
40 SCN1B NM_001037.5(SCN1B):c.310C>A (p.Leu104Met)SNV Uncertain significance 537731 rs1555720733 19:35524505-35524505 19:35033601-35033601
41 SCN1B NM_001037.5(SCN1B):c.461T>C (p.Met154Thr)SNV Uncertain significance 537733 rs1432198305 19:35530033-35530033 19:35039129-35039129
42 SCN1B NM_001037.5(SCN1B):c.415G>A (p.Val139Ile)SNV Uncertain significance 537730 rs560827790 19:35524610-35524610 19:35033706-35033706
43 SCN1B NM_001037.5(SCN1B):c.448+226G>ASNV Uncertain significance 537732 rs757396314 19:35524869-35524869 19:35033965-35033965
44 SCN1B NM_001037.5(SCN1B):c.397G>A (p.Glu133Lys)SNV Uncertain significance 582475 rs1488699749 19:35524592-35524592 19:35033688-35033688
45 SCN1B NC_000019.9:g.(?_35521705)_(35530625_?)deldeletion Uncertain significance 583794 19:35521705-35530625 19:35030801-35039721
46 SCN1B NM_001037.5(SCN1B):c.64G>A (p.Val22Met)SNV Uncertain significance 568522 rs745578106 19:35523455-35523455 19:35032551-35032551
47 SCN1B NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn)SNV Uncertain significance 565664 rs1568348711 19:35523549-35523549 19:35032645-35032645
48 SCN1B NM_001037.5(SCN1B):c.350G>A (p.Gly117Asp)SNV Uncertain significance 568700 rs1313744180 19:35524545-35524545 19:35033641-35033641
49 SCN1B NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)SNV Uncertain significance 619998 rs1555720743 19:35524542-35524542 19:35033638-35033638
50 SCN1B NM_001037.5(SCN1B):c.448+334G>ASNV Uncertain significance 657010 19:35524977-35524977 19:35034073-35034073

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 intracellular GO:0005622 9.56 ZNF599 ZNF302 ZNF30 ZNF181
2 intercalated disc GO:0014704 9.16 SCN5A SCN1B
3 T-tubule GO:0030315 8.96 SCN5A SCN1B
4 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 9.65 SCN5A SCN1B KCND3
2 cardiac muscle contraction GO:0060048 9.49 SCN5A SCN1B
3 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.46 SCN5A SCN1B
4 membrane depolarization GO:0051899 9.43 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 ion channel binding GO:0044325 9.43 SCN5A SCN1B KCND3
2 sodium channel activity GO:0005272 9.37 SCN5A SCN1B
3 voltage-gated ion channel activity GO:0005244 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
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48 NCI
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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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