BRGDA4
MCID: BRG004
MIFTS: 18

Brugada Syndrome 4 (BRGDA4)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Brugada Syndrome 4

MalaCards integrated aliases for Brugada Syndrome 4:

Name: Brugada Syndrome 4 58 12 54 76 30 13 6 74
Brgda4 58 12 76
Brugada Syndrome, Type 4 41

Characteristics:

HPO:

33
brugada syndrome 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110221
OMIM 58 611876
MeSH 45 D053840
ICD10 34 I49.8
MedGen 43 C2678477
UMLS 74 C2678477

Summaries for Brugada Syndrome 4

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 the genetic heterogeneity in Brugada syndrome, see BRGDA1 (601144). (611876)

MalaCards based summary : Brugada Syndrome 4, also known as brgda4, is related to brugada syndrome. An important gene associated with Brugada Syndrome 4 is CACNB2 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2). Affiliated tissues include heart, and related phenotypes are syncope and atrial fibrillation

Disease Ontology : 12 A Brugada syndrome that has material basis in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12.

UniProtKB/Swiss-Prot : 76 Brugada syndrome 4: A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is 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 4

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

# Related Disease Score Top Affiliating Genes
1 brugada syndrome 9.5 CACNB2 NSUN6

Symptoms & Phenotypes for Brugada Syndrome 4

Human phenotypes related to Brugada Syndrome 4:

33
# Description HPO Frequency HPO Source Accession
1 syncope 33 HP:0001279
2 atrial fibrillation 33 HP:0005110
3 shortened qt interval 33 HP:0012232

Clinical features from OMIM:

611876

Drugs & Therapeutics for Brugada Syndrome 4

Search Clinical Trials , NIH Clinical Center for Brugada Syndrome 4

Genetic Tests for Brugada Syndrome 4

Genetic tests related to Brugada Syndrome 4:

# Genetic test Affiliating Genes
1 Brugada Syndrome 4 30 CACNB2

Anatomical Context for Brugada Syndrome 4

MalaCards organs/tissues related to Brugada Syndrome 4:

42
Heart

Publications for Brugada Syndrome 4

Articles related to Brugada Syndrome 4:

# Title Authors Year
1
Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. ( 19358333 )
2009
2
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. ( 17224476 )
2007

Variations for Brugada Syndrome 4

ClinVar genetic disease variations for Brugada Syndrome 4:

6 (show top 50) (show all 188)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNB2 NM_201590.2(CACNB2): c.1442C> T (p.Ser481Leu) single nucleotide variant Pathogenic rs121917812 GRCh37 Chromosome 10, 18828274: 18828274
2 CACNB2 NM_201590.2(CACNB2): c.1442C> T (p.Ser481Leu) single nucleotide variant Pathogenic rs121917812 GRCh38 Chromosome 10, 18539345: 18539345
3 CACNB2 NM_201590.2(CACNB2): c.1356C> T (p.Arg452=) single nucleotide variant Benign/Likely benign rs34813638 GRCh37 Chromosome 10, 18828188: 18828188
4 CACNB2 NM_201590.2(CACNB2): c.1356C> T (p.Arg452=) single nucleotide variant Benign/Likely benign rs34813638 GRCh38 Chromosome 10, 18539259: 18539259
5 CACNB2 NM_201590.2(CACNB2): c.1398T> C (p.Pro466=) single nucleotide variant Conflicting interpretations of pathogenicity rs150280879 GRCh37 Chromosome 10, 18828230: 18828230
6 CACNB2 NM_201590.2(CACNB2): c.1398T> C (p.Pro466=) single nucleotide variant Conflicting interpretations of pathogenicity rs150280879 GRCh38 Chromosome 10, 18539301: 18539301
7 CACNB2 NM_201590.2(CACNB2): c.1623C> T (p.His541=) single nucleotide variant Benign/Likely benign rs61733967 GRCh37 Chromosome 10, 18828455: 18828455
8 CACNB2 NM_201590.2(CACNB2): c.1623C> T (p.His541=) single nucleotide variant Benign/Likely benign rs61733967 GRCh38 Chromosome 10, 18539526: 18539526
9 CACNB2 NM_201590.2(CACNB2): c.32C> T (p.Thr11Ile) single nucleotide variant Pathogenic rs587777742 GRCh38 Chromosome 10, 18340958: 18340958
10 CACNB2 NM_201590.2(CACNB2): c.32C> T (p.Thr11Ile) single nucleotide variant Pathogenic rs587777742 GRCh37 Chromosome 10, 18629887: 18629887
11 CACNB2 NM_000724.3(CACNB2): c.215C> T (p.Ala72Val) single nucleotide variant Uncertain significance rs200367454 GRCh37 Chromosome 10, 18787330: 18787330
12 CACNB2 NM_000724.3(CACNB2): c.215C> T (p.Ala72Val) single nucleotide variant Uncertain significance rs200367454 GRCh38 Chromosome 10, 18498401: 18498401
13 CACNB2 NM_000724.3(CACNB2): c.425C> T (p.Ser142Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150528041 GRCh37 Chromosome 10, 18789874: 18789874
14 CACNB2 NM_000724.3(CACNB2): c.425C> T (p.Ser142Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150528041 GRCh38 Chromosome 10, 18500945: 18500945
15 CACNB2 NM_000724.3(CACNB2): c.476G> C (p.Ser159Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149253719 GRCh37 Chromosome 10, 18795447: 18795447
16 CACNB2 NM_000724.3(CACNB2): c.476G> C (p.Ser159Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149253719 GRCh38 Chromosome 10, 18506518: 18506518
17 CACNB2 NM_000724.3(CACNB2): c.1346C> T (p.Thr449Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143326262 GRCh37 Chromosome 10, 18828181: 18828181
18 CACNB2 NM_000724.3(CACNB2): c.1346C> T (p.Thr449Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143326262 GRCh38 Chromosome 10, 18539252: 18539252
19 CACNB2 NM_000724.3(CACNB2): c.1611C> A (p.Asp537Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs144182966 GRCh37 Chromosome 10, 18828446: 18828446
20 CACNB2 NM_000724.3(CACNB2): c.1611C> A (p.Asp537Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs144182966 GRCh38 Chromosome 10, 18539517: 18539517
21 CACNB2 NM_201571.3(CACNB2): c.1122+3A> T single nucleotide variant Uncertain significance rs200174877 GRCh37 Chromosome 10, 18823159: 18823159
22 CACNB2 NM_201571.3(CACNB2): c.1122+3A> T single nucleotide variant Uncertain significance rs200174877 GRCh38 Chromosome 10, 18534230: 18534230
23 CACNB2 NM_201590.2(CACNB2): c.753T> C (p.Phe251=) single nucleotide variant Benign/Likely benign rs149586418 GRCh37 Chromosome 10, 18807868: 18807868
24 CACNB2 NM_201590.2(CACNB2): c.753T> C (p.Phe251=) single nucleotide variant Benign/Likely benign rs149586418 GRCh38 Chromosome 10, 18518939: 18518939
25 CACNB2 NM_201590.2(CACNB2): c.1391A> C (p.Glu464Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138060429 GRCh37 Chromosome 10, 18828223: 18828223
26 CACNB2 NM_201590.2(CACNB2): c.1391A> C (p.Glu464Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138060429 GRCh38 Chromosome 10, 18539294: 18539294
27 CACNB2 NM_201590.2(CACNB2): c.1430G> A (p.Arg477His) single nucleotide variant Conflicting interpretations of pathogenicity rs184280124 GRCh38 Chromosome 10, 18539333: 18539333
28 CACNB2 NM_201590.2(CACNB2): c.1430G> A (p.Arg477His) single nucleotide variant Conflicting interpretations of pathogenicity rs184280124 GRCh37 Chromosome 10, 18828262: 18828262
29 CACNB2 NM_201590.2(CACNB2): c.1508C> T (p.Ser503Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs137886839 GRCh37 Chromosome 10, 18828340: 18828340
30 CACNB2 NM_201590.2(CACNB2): c.1508C> T (p.Ser503Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs137886839 GRCh38 Chromosome 10, 18539411: 18539411
31 CACNB2 NM_201590.2(CACNB2): c.1534G> A (p.Ala512Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs202218948 GRCh38 Chromosome 10, 18539437: 18539437
32 CACNB2 NM_201590.2(CACNB2): c.1534G> A (p.Ala512Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs202218948 GRCh37 Chromosome 10, 18828366: 18828366
33 CACNB2 NM_201590.2(CACNB2): c.1540G> A (p.Val514Ile) single nucleotide variant Uncertain significance rs142639223 GRCh37 Chromosome 10, 18828372: 18828372
34 CACNB2 NM_201590.2(CACNB2): c.1540G> A (p.Val514Ile) single nucleotide variant Uncertain significance rs142639223 GRCh38 Chromosome 10, 18539443: 18539443
35 CACNB2 NM_201590.2(CACNB2): c.1654C> T (p.Arg552Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61733968 GRCh38 Chromosome 10, 18539557: 18539557
36 CACNB2 NM_201590.2(CACNB2): c.1654C> T (p.Arg552Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61733968 GRCh37 Chromosome 10, 18828486: 18828486
37 CACNB2 NM_201590.2(CACNB2): c.1813C> T (p.Arg605Cys) single nucleotide variant Likely benign rs77141223 GRCh37 Chromosome 10, 18828645: 18828645
38 CACNB2 NM_201590.2(CACNB2): c.1813C> T (p.Arg605Cys) single nucleotide variant Likely benign rs77141223 GRCh38 Chromosome 10, 18539716: 18539716
39 CACNB2 NM_201590.2(CACNB2): c.1044+4_1044+7dupAGTA duplication Conflicting interpretations of pathogenicity rs1456201116 GRCh37 Chromosome 10, 18823160: 18823163
40 CACNB2 NM_201590.2(CACNB2): c.1044+4_1044+7dupAGTA duplication Conflicting interpretations of pathogenicity rs1456201116 GRCh38 Chromosome 10, 18534231: 18534234
41 CACNB2 NM_201590.2(CACNB2): c.1654C> G (p.Arg552Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61733968 GRCh38 Chromosome 10, 18539557: 18539557
42 CACNB2 NM_201590.2(CACNB2): c.1654C> G (p.Arg552Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61733968 GRCh37 Chromosome 10, 18828486: 18828486
43 CACNB2 NM_201590.2(CACNB2): c.711G> A (p.Leu237=) single nucleotide variant Conflicting interpretations of pathogenicity rs138423466 GRCh37 Chromosome 10, 18807333: 18807333
44 CACNB2 NM_201590.2(CACNB2): c.711G> A (p.Leu237=) single nucleotide variant Conflicting interpretations of pathogenicity rs138423466 GRCh38 Chromosome 10, 18518404: 18518404
45 CACNB2 NM_201590.2(CACNB2): c.1270C> T (p.Arg424Cys) single nucleotide variant Uncertain significance rs551742573 GRCh37 Chromosome 10, 18827238: 18827238
46 CACNB2 NM_201590.2(CACNB2): c.1270C> T (p.Arg424Cys) single nucleotide variant Uncertain significance rs551742573 GRCh38 Chromosome 10, 18538309: 18538309
47 CACNB2 NM_201590.2(CACNB2): c.*10G> T single nucleotide variant Benign/Likely benign rs4747352 GRCh37 Chromosome 10, 18828663: 18828663
48 CACNB2 NM_201590.2(CACNB2): c.*10G> T single nucleotide variant Benign/Likely benign rs4747352 GRCh38 Chromosome 10, 18539734: 18539734
49 CACNB2 NM_201590.2(CACNB2): c.52-6C> T single nucleotide variant Likely benign rs864622500 GRCh37 Chromosome 10, 18690847: 18690847
50 CACNB2 NM_201590.2(CACNB2): c.52-6C> T single nucleotide variant Likely benign rs864622500 GRCh38 Chromosome 10, 18401918: 18401918

Expression for Brugada Syndrome 4

Search GEO for disease gene expression data for Brugada Syndrome 4.

Pathways for Brugada Syndrome 4

GO Terms for Brugada Syndrome 4

Sources for Brugada Syndrome 4

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