BRGDA3
MCID: BRG003
MIFTS: 28

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 74 29 13 6 72
Brgda3 57 12 74
Brugada Syndrome, Type 3 40

Characteristics:

HPO:

32
brugada syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110220
MeSH 44 D053840
ICD10 33 I49.8
MedGen 42 C2678478
UMLS 72 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). The drugs Sodium Channel Blockers and Diuretics, Potassium Sparing have been mentioned in the context of this disorder. 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 : 74 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 28.7 CACNA1C-AS1 CACNA1C
2 syncope 10.0

Symptoms & Phenotypes for Brugada Syndrome 3

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

Clinical features from OMIM:

611875

Drugs & Therapeutics for Brugada Syndrome 3

Drugs for Brugada Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Sodium Channel Blockers
2 Diuretics, Potassium Sparing
3 Anti-Arrhythmia Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Completed NCT02302274 flecainide iv

Search 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 PMID Year
1
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. 8 71
17224476 2007
2
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 71
23994779 2013
3
Brugada Syndrome 71
20301690 2005
4
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 8
15655131 2005
5
Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims: A Report From the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry. 38
27635072 2016
6
[Heart rate turbulence in patients with ventricular tachy arrhythmias of noncoronary genesis]. 38
15940187 2005

Variations for Brugada Syndrome 3

ClinVar genetic disease variations for Brugada Syndrome 3:

6 (show all 13)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1C NM_000719.7(CACNA1C): c.116C> T (p.Ala39Val) single nucleotide variant Pathogenic rs121912776 12:2224456-2224456 12:2115290-2115290
2 CACNA1C NM_000719.7(CACNA1C): c.6040G> A (p.Val2014Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199473660 12:2797868-2797868 12:2688702-2688702
3 CACNA1C NM_000719.7(CACNA1C): c.1468G> A (p.Gly490Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121912775 12:2659186-2659186 12:2550020-2550020
4 CACNA1C NM_000719.7(CACNA1C): c.6011G> T (p.Gly2004Val) single nucleotide variant Uncertain significance rs374991642 12:2797839-2797839 12:2688673-2688673
5 CACNA1C NM_000719.7(CACNA1C): c.5456G> A (p.Arg1819Gln) single nucleotide variant Uncertain significance rs764212214 12:2791727-2791727 12:2682561-2682561
6 CACNA1C NM_000719.7(CACNA1C): c.5098G> A (p.Gly1700Ser) single nucleotide variant Uncertain significance rs761966966 12:2788616-2788616 12:2679450-2679450
7 CACNA1C NM_000719.7(CACNA1C): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs761378545 12:2162730-2162730 12:2053564-2053564
8 CACNA1C NM_000719.7(CACNA1C): c.98A> G (p.Asn33Ser) single nucleotide variant Uncertain significance rs535608443 12:2224438-2224438 12:2115272-2115272
9 CACNA1C NM_000719.7(CACNA1C): c.5120T> C (p.Val1707Ala) single nucleotide variant Uncertain significance rs531161884 12:2788638-2788638 12:2679472-2679472
10 CACNA1C NM_000719.7(CACNA1C): c.5731G> C (p.Gly1911Arg) single nucleotide variant Uncertain significance rs374528680 12:2795382-2795382 12:2686216-2686216
11 CACNA1C NM_000719.7(CACNA1C): c.3679G> A (p.Val1227Ile) single nucleotide variant Uncertain significance rs373124557 12:2719827-2719827 12:2610661-2610661
12 CACNA1C NM_000719.7(CACNA1C): c.65G> T (p.Ser22Ile) single nucleotide variant Uncertain significance 12:2224405-2224405 12:2115239-2115239
13 CACNA1C NM_000719.7(CACNA1C): c.6001G> A (p.Gly2001Ser) single nucleotide variant Uncertain significance 12:2797829-2797829 12:2688663-2688663

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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