BRGDA3
MCID: BRG003
MIFTS: 21

Brugada Syndrome 3 (BRGDA3)

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

Aliases & Classifications for Brugada Syndrome 3

MalaCards integrated aliases for Brugada Syndrome 3:

Name: Brugada Syndrome 3 58 12 54 76 30 13 6 74
Brgda3 58 12 76
Brugada Syndrome, Type 3 41

Characteristics:

HPO:

33
brugada syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110220
OMIM 58 611875
MeSH 45 D053840
ICD10 34 I49.8
MedGen 43 C2678478
UMLS 74 C2678478

Summaries for Brugada Syndrome 3

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 of Brugada syndrome, see BRGDA1 (601144). (611875)

MalaCards based summary : Brugada Syndrome 3, also known as brgda3, is related to brugada syndrome and syncope. An important gene associated with Brugada Syndrome 3 is CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C). Affiliated tissues include heart, and related phenotypes are sudden cardiac death and syncope

Disease Ontology : 12 A Brugada syndrome that has material basis in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13.

UniProtKB/Swiss-Prot : 76 Brugada syndrome 3: 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 3

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

# Related Disease Score Top Affiliating Genes
1 brugada syndrome 29.2 CACNA1C CACNA1C-AS1
2 syncope 10.0

Symptoms & Phenotypes for Brugada Syndrome 3

Human phenotypes related to Brugada Syndrome 3:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 HP:0001645
2 syncope 33 HP:0001279
3 atrial fibrillation 33 HP:0005110
4 ventricular arrhythmia 33 HP:0004308
5 shortened qt interval 33 HP:0012232
6 j wave 33 HP:0012272

Clinical features from OMIM:

611875

Drugs & Therapeutics for Brugada Syndrome 3

Search Clinical Trials , NIH Clinical Center for Brugada Syndrome 3

Genetic Tests for Brugada Syndrome 3

Genetic tests related to Brugada Syndrome 3:

# Genetic test Affiliating Genes
1 Brugada Syndrome 3 30 CACNA1C

Anatomical Context for Brugada Syndrome 3

MalaCards organs/tissues related to Brugada Syndrome 3:

42
Heart

Publications for Brugada Syndrome 3

Articles related to Brugada Syndrome 3:

# Title Authors Year
1
Syncope in Brugada syndrome type 3: an electrocardiographic lesson. ( 23380116 )
2013

Variations for Brugada Syndrome 3

ClinVar genetic disease variations for Brugada Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1C NM_000719.6(CACNA1C): c.5731G> C (p.Gly1911Arg) single nucleotide variant Uncertain significance rs374528680 GRCh38 Chromosome 12, 2686216: 2686216
2 CACNA1C NM_000719.6(CACNA1C): c.5731G> C (p.Gly1911Arg) single nucleotide variant Uncertain significance rs374528680 GRCh37 Chromosome 12, 2795382: 2795382
3 CACNA1C NM_000719.6(CACNA1C): c.1468G> A (p.Gly490Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121912775 GRCh37 Chromosome 12, 2659186: 2659186
4 CACNA1C NM_000719.6(CACNA1C): c.1468G> A (p.Gly490Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121912775 GRCh38 Chromosome 12, 2550020: 2550020
5 CACNA1C NM_000719.6(CACNA1C): c.116C> T (p.Ala39Val) single nucleotide variant Pathogenic rs121912776 GRCh37 Chromosome 12, 2224456: 2224456
6 CACNA1C NM_000719.6(CACNA1C): c.116C> T (p.Ala39Val) single nucleotide variant Pathogenic rs121912776 GRCh38 Chromosome 12, 2115290: 2115290
7 CACNA1C NM_000719.6(CACNA1C): c.6040G> A (p.Val2014Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199473660 GRCh37 Chromosome 12, 2797868: 2797868
8 CACNA1C NM_000719.6(CACNA1C): c.6040G> A (p.Val2014Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199473660 GRCh38 Chromosome 12, 2688702: 2688702

Expression for Brugada Syndrome 3

Search GEO for disease gene expression data for Brugada Syndrome 3.

Pathways for Brugada Syndrome 3

GO Terms for Brugada Syndrome 3

Sources for Brugada Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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