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 57 12 73 29 13 6 15 71
Cardiac Conduction Defect, Nonspecific 57 29 6
Brgda5 57 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® 57 612838
OMIM Phenotypic Series 57 PS601144
MeSH 44 D053840
ICD10 32 I49.8
MedGen 41 C2748541
UMLS 71 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) (Updated 05-Mar-2021)

MalaCards based summary : Brugada Syndrome 5, also known as cardiac conduction defect, nonspecific, is related to lateral myocardial infarction and laminopathy. 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 Antiarrhythmic Pathway, Pharmacodynamics. 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 34)
# Related Disease Score Top Affiliating Genes
1 lateral myocardial infarction 10.3 SCN5A SCN1B
2 laminopathy 10.2 SCN5A LMNA
3 first-degree atrioventricular block 10.2 SCN5A LMNA
4 atrioventricular block 10.2 SCN5A LMNA
5 third-degree atrioventricular block 10.2 SCN5A SCN1B
6 left bundle branch hemiblock 10.2 SCN5A LMNA
7 tethered spinal cord syndrome 10.2 ZNF599 ZNF181
8 long qt syndrome 3 10.1 SCN5A SCN1B
9 gm1-gangliosidosis, type iii 10.1 ZNF302 ZNF181
10 cardiac conduction defect 10.1 SCN5A SCN1B LMNA
11 sick sinus syndrome 10.1 SCN5A SCN1B LMNA
12 paroxysmal extreme pain disorder 10.1 SCN5A SCN1B
13 paramyotonia congenita of von eulenburg 10.1 SCN5A SCN1B
14 atrial fibrillation 10.0 SCN5A SCN1B LMNA
15 atrial standstill 1 10.0 SCN5A SCN1B LMNA
16 brugada syndrome 1 10.0 SCN5A KCND3
17 prolidase deficiency 10.0 ZNF599 ZNF30 ZNF181
18 left ventricular noncompaction 10.0 SCN5A SCN1B LMNA
19 sinoatrial node disease 9.9 SCN5A SCN1B KCND3
20 right bundle branch block 9.9 SCN5A SCN1B KCND3
21 long qt syndrome 2 9.9 SCN5A SCN1B KCND3
22 intrinsic cardiomyopathy 9.9 SCN5A LMNA KCND3
23 dravet syndrome 9.9 SCN5A SCN1B KCND3
24 cardiomyopathy, dilated, 1b 9.9 SCN5A LMNA
25 familial atrial fibrillation 9.9 SCN5A SCN1B KCND3
26 long qt syndrome 1 9.8 SCN5A SCN1B KCND3
27 leukodystrophy, hypomyelinating, 11 9.8 GSPT2 EMC1
28 myasthenic syndrome, congenital, 5 9.8 SCN5A KCND3
29 mitochondrial dna depletion syndrome 13 9.8 GSPT2 EMC1
30 brugada syndrome 9.8 SCN5A SCN1B LMNA KCND3
31 catecholaminergic polymorphic ventricular tachycardia 9.8 SCN5A SCN1B LMNA KCND3
32 heart conduction disease 9.8 SCN5A SCN1B LMNA KCND3
33 long qt syndrome 9.8 SCN5A SCN1B LMNA KCND3
34 chromosome 19q13.11 deletion syndrome 9.7 ZNF599 ZNF302 ZNF30 ZNF181

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 (Updated 05-Mar-2021)

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

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 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. 57 6
18464934 2008
2
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 57
15655131 2005
3
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 6
14523039 2003
4
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 6
11748104 2001
5
Significance of automated external defibrillator in identifying lethal ventricular arrhythmias. 61
31297625 2019
6
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 176)
# 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 SCN5A NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) SNV Pathogenic 9395 rs137854612 3:38601661-38601661 3:38560170-38560170
3 SCN1B NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) SNV Pathogenic 9252 rs104894718 19:35524558-35524558 19:35033654-35033654
4 SCN1B NM_001037.5(SCN1B):c.254G>A (p.Arg85His) SNV Pathogenic 60767 rs16969925 19:35524449-35524449 19:35033545-35033545
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.448+89G>A SNV Pathogenic 9256 rs267607029 19:35524732-35524732 19:35033828-35033828
7 SCN1B NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) SNV Likely pathogenic 9252 rs104894718 19:35524558-35524558 19:35033654-35033654
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>A SNV Conflicting interpretations of pathogenicity 190847 rs66876876 19:35524836-35524836 19:35033932-35033932
10 SCN1B NM_001037.5(SCN1B):c.448+189C>A SNV Conflicting interpretations of pathogenicity 190846 rs766373298 19:35524832-35524832 19:35033928-35033928
11 SCN1B NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) SNV Conflicting interpretations of pathogenicity 190859 rs786205830 19:35524448-35524448 19:35033544-35033544
12 SCN1B NM_001037.5(SCN1B):c.*378G>A SNV Uncertain significance 889376 19:35531073-35531073 19:35040169-35040169
13 SCN1B NM_001037.5(SCN1B):c.*50C>T SNV Uncertain significance 891557 19:35530745-35530745 19:35039841-35039841
14 SCN1B NM_001037.5(SCN1B):c.-72G>A SNV Uncertain significance 889934 19:35521653-35521653 19:35030749-35030749
15 SCN1B NM_001037.5(SCN1B):c.*464C>G SNV Uncertain significance 890065 19:35531159-35531159 19:35040255-35040255
16 SCN1B NM_001037.5(SCN1B):c.*486C>T SNV Uncertain significance 890066 19:35531181-35531181 19:35040277-35040277
17 SCN1B NM_001037.5(SCN1B):c.-31G>A SNV Uncertain significance 516623 rs776361009 19:35521694-35521694 19:35030790-35030790
18 SCN1B NM_001037.5(SCN1B):c.178C>T (p.Arg60Cys) SNV Uncertain significance 854719 19:35523569-35523569 19:35032665-35032665
19 SCN1B NM_001037.5(SCN1B):c.207+1G>A SNV Uncertain significance 855779 19:35523599-35523599 19:35032695-35032695
20 SCN1B NM_001037.5(SCN1B):c.338A>G (p.Tyr113Cys) SNV Uncertain significance 858574 19:35524533-35524533 19:35033629-35033629
21 SCN1B NM_001037.5(SCN1B):c.179G>A (p.Arg60His) SNV Uncertain significance 860826 19:35523570-35523570 19:35032666-35032666
22 SCN1B NM_001037.5(SCN1B):c.448+244A>T SNV Uncertain significance 863442 19:35524887-35524887 19:35033983-35033983
23 SCN1B NM_001037.5(SCN1B):c.388G>A (p.Glu130Lys) SNV Uncertain significance 864391 19:35524583-35524583 19:35033679-35033679
24 SCN1B NM_001037.5(SCN1B):c.-123A>T SNV Uncertain significance 889254 19:35521602-35521602 19:35030698-35030698
25 SCN1B NM_001037.5(SCN1B):c.*305C>T SNV Uncertain significance 889374 19:35531000-35531000 19:35040096-35040096
26 SCN1B NM_001037.5(SCN1B):c.448+348G>T SNV Uncertain significance 834497 19:35524991-35524991 19:35034087-35034087
27 SCN1B NM_001037.5(SCN1B):c.448+7C>G SNV Uncertain significance 835362 19:35524650-35524650 19:35033746-35033746
28 SCN1B NM_001037.5(SCN1B):c.40+1_40+50del Deletion Uncertain significance 839639 19:35521757-35521806 19:35030853-35030902
29 SCN1B NM_001037.5(SCN1B):c.448+310T>C SNV Uncertain significance 841112 19:35524953-35524953 19:35034049-35034049
30 SCN1B NM_001037.5(SCN1B):c.448+320C>A SNV Uncertain significance 843609 19:35524963-35524963 19:35034059-35034059
31 SCN1B NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) SNV Uncertain significance 816882 rs766910280 19:35524460-35524460 19:35033556-35033556
32 SCN1B NM_001037.5(SCN1B):c.448+295_448+296delinsAA Indel Uncertain significance 847672 19:35524938-35524939 19:35034034-35034035
33 SCN1B NM_001037.5(SCN1B):c.448+187G>A SNV Uncertain significance 851719 19:35524830-35524830 19:35033926-35033926
34 SCN1B NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys) SNV Uncertain significance 852686 19:35524445-35524445 19:35033541-35033541
35 SCN1B NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) SNV Uncertain significance 190870 rs786205834 19:35521762-35521762 19:35030858-35030858
36 SCN1B NM_001037.5(SCN1B):c.134G>A (p.Arg45His) SNV Uncertain significance 190857 rs180943300 19:35523525-35523525 19:35032621-35032621
37 SCN1B NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn) SNV Uncertain significance 565664 rs1568348711 19:35523549-35523549 19:35032645-35032645
38 SCN1B NM_001037.5(SCN1B):c.448+295G>T SNV Uncertain significance 190849 rs786205828 19:35524938-35524938 19:35034034-35034034
39 SCN1B NM_001037.5(SCN1B):c.352G>T (p.Asp118Tyr) SNV Uncertain significance 190861 rs761925369 19:35524547-35524547 19:35033643-35033643
40 SCN1B NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu) SNV Uncertain significance 619998 19:35524542-35524542 19:35033638-35033638
41 SCN1B NM_001037.5(SCN1B):c.256T>C (p.Phe86Leu) SNV Uncertain significance 651308 rs1600364421 19:35524451-35524451 19:35033547-35033547
42 SCN1B NM_001037.5(SCN1B):c.448+39C>T SNV Uncertain significance 652443 rs373443526 19:35524682-35524682 19:35033778-35033778
43 SCN1B NM_001037.5(SCN1B):c.542G>A (p.Cys181Tyr) SNV Uncertain significance 654138 rs1173931729 19:35530114-35530114 19:35039210-35039210
44 SCN1B NM_001037.5(SCN1B):c.448+321G>C SNV Uncertain significance 655577 rs72558028 19:35524964-35524964 19:35034060-35034060
45 SCN1B NM_001037.5(SCN1B):c.448+127C>T SNV Uncertain significance 656590 rs770344365 19:35524770-35524770 19:35033866-35033866
46 SCN1B NM_001037.5(SCN1B):c.448+334G>A SNV Uncertain significance 657010 rs766204907 19:35524977-35524977 19:35034073-35034073
47 SCN1B NM_001037.5(SCN1B):c.133C>T (p.Arg45Cys) SNV Uncertain significance 436652 rs757554677 19:35523524-35523524 19:35032620-35032620
48 SCN1B NM_001037.5(SCN1B):c.448+225C>T SNV Uncertain significance 242250 rs369588692 19:35524868-35524868 19:35033964-35033964
49 SCN1B NM_001037.5(SCN1B):c.-93G>C SNV Uncertain significance 328831 rs886054340 19:35521632-35521632 19:35030728-35030728
50 SCN1B NM_001037.5(SCN1B):c.-132C>G SNV Uncertain significance 328829 rs886054339 19:35521593-35521593 19:35030689-35030689

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 10.67 SCN5A SCN1B LMNA KCND3
3 10.63 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 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 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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