BRGDA5
MCID: BRG007
MIFTS: 41

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 72 29 13 6 15 70
Cardiac Conduction Defect, Nonspecific 57 29 6
Brgda5 57 12 72
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 70 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 20-May-2021)

MalaCards based summary : Brugada Syndrome 5, also known as cardiac conduction defect, nonspecific, is related to lateral myocardial infarction and first-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 Antiarrhythmic Pathway, Pharmacodynamics. Affiliated tissues include heart, temporal lobe and spinal cord, 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 : 72 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 32)
# Related Disease Score Top Affiliating Genes
1 lateral myocardial infarction 10.3 SCN5A SCN1B
2 first-degree atrioventricular block 10.2 SCN5A LMNA
3 atrioventricular block 10.2 SCN5A LMNA
4 laminopathy 10.2 SCN5A LMNA
5 left bundle branch hemiblock 10.2 SCN5A LMNA
6 third-degree atrioventricular block 10.2 SCN5A SCN1B
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 paramyotonia congenita of von eulenburg 10.1 SCN5A SCN1B
13 atrial fibrillation 10.0 SCN5A SCN1B LMNA
14 paroxysmal extreme pain disorder 10.0 SCN5A SCN1B
15 atrial standstill 1 10.0 SCN5A SCN1B LMNA
16 prolidase deficiency 10.0 ZNF599 ZNF30 ZNF181
17 left ventricular noncompaction 9.9 SCN5A SCN1B LMNA
18 leukodystrophy, hypomyelinating, 11 9.9 GSPT2 EMC1
19 mitochondrial dna depletion syndrome 13 9.9 GSPT2 EMC1
20 brugada syndrome 1 9.8 SCN5A KCND3
21 sinoatrial node disease 9.8 SCN5A SCN1B KCND3
22 right bundle branch block 9.8 SCN5A SCN1B KCND3
23 long qt syndrome 2 9.8 SCN5A SCN1B KCND3
24 dravet syndrome 9.8 SCN5A SCN1B KCND3
25 familial atrial fibrillation 9.8 SCN5A SCN1B KCND3
26 long qt syndrome 1 9.7 SCN5A SCN1B KCND3
27 chromosome 19q13.11 deletion syndrome 9.7 ZNF599 ZNF302 ZNF30 ZNF181
28 brugada syndrome 9.7 SCN5A SCN1B LMNA KCND3
29 catecholaminergic polymorphic ventricular tachycardia 9.7 SCN5A SCN1B LMNA KCND3
30 heart conduction disease 9.7 SCN5A SCN1B LMNA KCND3
31 long qt syndrome 9.6 SCN5A SCN1B LMNA KCND3
32 myasthenic syndrome, congenital, 5 9.6 SCN5A KCND3

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 20-May-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, Temporal Lobe, Spinal Cord

Publications for Brugada Syndrome 5

Articles related to Brugada Syndrome 5:

(show all 14)
# 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
Sodium Channel β Subunits in Epilepsy: Location, Location, Location. 6
28331474 2017
3
β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function. 6
27277800 2016
4
Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. 6
19808477 2009
5
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. 6
17629415 2007
6
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 6
17020904 2007
7
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 57
15655131 2005
8
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 6
14523039 2003
9
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 6
12011299 2002
10
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 6
11748104 2001
11
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 6
9697698 1998
12
Arthroplasty of the temporomandibular joint. 6
5421039 1970
13
Significance of automated external defibrillator in identifying lethal ventricular arrhythmias. 61
31297625 2019
14
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 200)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN1B NM_001037.5(SCN1B):c.259G>C (p.Glu87Gln) SNV Pathogenic 9255 rs121434627 GRCh37: 19:35524454-35524454
GRCh38: 19:35033550-35033550
2 SCN1B NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) SNV Pathogenic 9252 rs104894718 GRCh37: 19:35524558-35524558
GRCh38: 19:35033654-35033654
3 SCN5A NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) SNV Pathogenic 9395 rs137854612 GRCh37: 3:38601661-38601661
GRCh38: 3:38560170-38560170
4 SCN1B NM_001037.5(SCN1B):c.254G>A (p.Arg85His) SNV Pathogenic 60767 rs16969925 GRCh37: 19:35524449-35524449
GRCh38: 19:35033545-35033545
5 SCN1B NM_001037.5(SCN1B):c.448+89G>A SNV Pathogenic 9256 rs267607029 GRCh37: 19:35524732-35524732
GRCh38: 19:35033828-35033828
6 SCN1B NM_001037.5(SCN1B):c.254G>A (p.Arg85His) SNV Pathogenic 60767 rs16969925 GRCh37: 19:35524449-35524449
GRCh38: 19:35033545-35033545
7 SCN1B NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) SNV Likely pathogenic 9252 rs104894718 GRCh37: 19:35524558-35524558
GRCh38: 19:35033654-35033654
8 LMNA NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly) Indel Likely pathogenic 222695 rs869025458 GRCh37: 1:156085063-156085064
GRCh38: 1:156115272-156115273
9 SCN1B NM_001037.5(SCN1B):c.448+193G>A SNV Conflicting interpretations of pathogenicity 190847 rs66876876 GRCh37: 19:35524836-35524836
GRCh38: 19:35033932-35033932
10 SCN1B NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) SNV Conflicting interpretations of pathogenicity 190859 rs786205830 GRCh37: 19:35524448-35524448
GRCh38: 19:35033544-35033544
11 SCN1B NM_001037.5(SCN1B):c.448+189C>A SNV Conflicting interpretations of pathogenicity 190846 rs766373298 GRCh37: 19:35524832-35524832
GRCh38: 19:35033928-35033928
12 SCN1B NM_001037.5(SCN1B):c.-123A>T SNV Uncertain significance 889254 GRCh37: 19:35521602-35521602
GRCh38: 19:35030698-35030698
13 SCN1B NM_001037.5(SCN1B):c.*305C>T SNV Uncertain significance 889374 GRCh37: 19:35531000-35531000
GRCh38: 19:35040096-35040096
14 SCN1B NM_001037.5(SCN1B):c.*378G>A SNV Uncertain significance 889376 GRCh37: 19:35531073-35531073
GRCh38: 19:35040169-35040169
15 SCN1B NM_001037.5(SCN1B):c.*553C>T SNV Uncertain significance 891612 GRCh37: 19:35531248-35531248
GRCh38: 19:35040344-35040344
16 SCN1B NM_001037.5(SCN1B):c.*50C>T SNV Uncertain significance 891557 GRCh37: 19:35530745-35530745
GRCh38: 19:35039841-35039841
17 SCN1B NM_199037.3(SCN1B):c.751G>A (p.Val251Ile) SNV Uncertain significance 36757 rs193922728 GRCh37: 19:35524946-35524946
GRCh38: 19:35034042-35034042
18 SCN1B NM_001037.5(SCN1B):c.448+106C>A SNV Uncertain significance 1060635 GRCh37: 19:35524749-35524749
GRCh38: 19:35033845-35033845
19 SCN1B NM_001037.5(SCN1B):c.448+7C>T SNV Uncertain significance 378521 rs748379474 GRCh37: 19:35524650-35524650
GRCh38: 19:35033746-35033746
20 SCN1B NM_001037.5(SCN1B):c.207+6C>T SNV Uncertain significance 935943 GRCh37: 19:35523604-35523604
GRCh38: 19:35032700-35032700
21 SCN1B NM_001037.5(SCN1B):c.40+1_40+50del Deletion Uncertain significance 839639 GRCh37: 19:35521757-35521806
GRCh38: 19:35030853-35030902
22 SCN1B NM_001037.5(SCN1B):c.*486C>T SNV Uncertain significance 890066 GRCh37: 19:35531181-35531181
GRCh38: 19:35040277-35040277
23 SCN1B NM_001037.5(SCN1B):c.*464C>G SNV Uncertain significance 890065 GRCh37: 19:35531159-35531159
GRCh38: 19:35040255-35040255
24 SCN1B NM_001037.5(SCN1B):c.-72G>A SNV Uncertain significance 889934 GRCh37: 19:35521653-35521653
GRCh38: 19:35030749-35030749
25 SCN1B NM_001037.5(SCN1B):c.448+225C>T SNV Uncertain significance 242250 rs369588692 GRCh37: 19:35524868-35524868
GRCh38: 19:35033964-35033964
26 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1399C>T (p.Pro467Ser) SNV Uncertain significance 222519 rs869025370 GRCh37: 10:18827205-18827205
GRCh38: 10:18538276-18538276
27 TRPM4 NM_017636.4(TRPM4):c.3337C>G (p.Leu1113Val) SNV Uncertain significance 222855 rs780954126 GRCh37: 19:49713975-49713975
GRCh38: 19:49210718-49210718
28 SCN1B NM_001037.5(SCN1B):c.-93G>C SNV Uncertain significance 328831 rs886054340 GRCh37: 19:35521632-35521632
GRCh38: 19:35030728-35030728
29 SCN1B NM_001037.5(SCN1B):c.-132C>G SNV Uncertain significance 328829 rs886054339 GRCh37: 19:35521593-35521593
GRCh38: 19:35030689-35030689
30 SCN1B NM_001037.5(SCN1B):c.-88A>C SNV Uncertain significance 328832 rs886054341 GRCh37: 19:35521637-35521637
GRCh38: 19:35030733-35030733
31 SCN1B NM_001037.5(SCN1B):c.150C>T (p.Asn50=) SNV Uncertain significance 328834 rs147073518 GRCh37: 19:35523541-35523541
GRCh38: 19:35032637-35032637
32 SCN1B NM_001037.5(SCN1B):c.448+151C>A SNV Uncertain significance 406504 rs1060501167 GRCh37: 19:35524794-35524794
GRCh38: 19:35033890-35033890
33 SCN1B NM_001037.5(SCN1B):c.448+40G>A SNV Uncertain significance 406499 rs199685662 GRCh37: 19:35524683-35524683
GRCh38: 19:35033779-35033779
34 SCN1B NM_001037.5(SCN1B):c.255C>G (p.Arg85=) SNV Uncertain significance 406502 rs1060501166 GRCh37: 19:35524450-35524450
GRCh38: 19:35033546-35033546
35 SCN1B NM_001037.5(SCN1B):c.266G>A (p.Arg89His) SNV Uncertain significance 190860 rs138381632 GRCh37: 19:35524461-35524461
GRCh38: 19:35033557-35033557
36 SCN1B NM_001037.5(SCN1B):c.448+111C>T SNV Uncertain significance 406500 rs758654948 GRCh37: 19:35524754-35524754
GRCh38: 19:35033850-35033850
37 SCN1B NM_001037.5(SCN1B):c.448+123C>T SNV Uncertain significance 406503 rs771174760 GRCh37: 19:35524766-35524766
GRCh38: 19:35033862-35033862
38 SCN1B NM_001037.5(SCN1B):c.136C>T (p.Arg46Cys) SNV Uncertain significance 470176 rs371646049 GRCh37: 19:35523527-35523527
GRCh38: 19:35032623-35032623
39 SCN1B NM_001037.5(SCN1B):c.448+345C>T SNV Uncertain significance 190866 rs754815235 GRCh37: 19:35524988-35524988
GRCh38: 19:35034084-35034084
40 SCN5A NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) SNV Uncertain significance 68032 rs199473072 GRCh37: 3:38655264-38655264
GRCh38: 3:38613773-38613773
41 SCN1B NM_001037.5(SCN1B):c.29G>A (p.Gly10Asp) SNV Uncertain significance 470178 rs1555720384 GRCh37: 19:35521753-35521753
GRCh38: 19:35030849-35030849
42 SCN1B NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn) SNV Uncertain significance 565664 rs1568348711 GRCh37: 19:35523549-35523549
GRCh38: 19:35032645-35032645
43 SCN1B NM_001037.5(SCN1B):c.448+144A>G SNV Uncertain significance 190864 rs763402433 GRCh37: 19:35524787-35524787
GRCh38: 19:35033883-35033883
44 SCN1B NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) SNV Uncertain significance 190870 rs786205834 GRCh37: 19:35521762-35521762
GRCh38: 19:35030858-35030858
45 SCN1B NM_001037.5(SCN1B):c.64G>A (p.Val22Met) SNV Uncertain significance 568522 rs745578106 GRCh37: 19:35523455-35523455
GRCh38: 19:35032551-35032551
46 SCN1B NM_001037.5(SCN1B):c.350G>A (p.Gly117Asp) SNV Uncertain significance 568700 rs1313744180 GRCh37: 19:35524545-35524545
GRCh38: 19:35033641-35033641
47 SCN1B NM_001037.5(SCN1B):c.268G>A (p.Val90Met) SNV Uncertain significance 284541 rs778461222 GRCh37: 19:35524463-35524463
GRCh38: 19:35033559-35033559
48 SCN1B NM_001037.5(SCN1B):c.374G>A (p.Arg125His) SNV Uncertain significance 190881 rs759839781 GRCh37: 19:35524569-35524569
GRCh38: 19:35033665-35033665
49 SCN1B NM_001037.5(SCN1B):c.23T>C (p.Val8Ala) SNV Uncertain significance 190868 rs786205833 GRCh37: 19:35521747-35521747
GRCh38: 19:35030843-35030843
50 SCN1B NM_001037.5(SCN1B):c.638G>A (p.Gly213Asp) SNV Uncertain significance 190878 rs201209882 GRCh37: 19:35530586-35530586
GRCh38: 19:35039682-35039682

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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