BRGDA3
MCID: BRG003
MIFTS: 25

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 57 12 53 75 29 13 6 73
Brgda3 57 12 75
Brugada Syndrome, Type 3 40

Characteristics:

HPO:

32
brugada syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611875
Disease Ontology 12 DOID:0110220
ICD10 33 I49.8
MedGen 42 C2678478
MeSH 44 D053840
UMLS 73 C2678478

Summaries for Brugada Syndrome 3

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 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 testes, 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 : 75 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 29.4 CACNA1C CACNA1C-AS1
2 syncope 9.9

Symptoms & Phenotypes for Brugada Syndrome 3

Clinical features from OMIM:

611875

Human phenotypes related to Brugada Syndrome 3:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 syncope 32 HP:0001279
3 atrial fibrillation 32 HP:0005110
4 ventricular arrhythmia 32 HP:0004308
5 shortened qt interval 32 HP:0012232
6 j wave 32 HP:0012272

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 29 CACNA1C

Anatomical Context for Brugada Syndrome 3

MalaCards organs/tissues related to Brugada Syndrome 3:

41
Heart, Testes

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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