Brugada Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Blood diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the circulatory system

Other forms of heart disease

Other cardiac arrhythmias

Other specified cardiac arrhythmias

External Ids:

Disease Ontology ¹² DOID:0110220

OMIM ⁵⁸ 611875

MeSH ⁴⁵ D053840

ICD10 ³⁴ I49.8

MedGen ⁴³ C2678478

SNOMED-CT via HPO ⁷⁰ 263681008 271594007 272030005 more

UMLS ⁷⁴ C2678478

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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.

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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	9.9

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Symptoms & Phenotypes for Brugada Syndrome 3

Human phenotypes related to Brugada Syndrome 3:

³³ (show all 6)

#	Description	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

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Drugs & Therapeutics for Brugada Syndrome 3

Search Clinical Trials , NIH Clinical Center for Brugada Syndrome 3

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Genetic Tests for Brugada Syndrome 3

Genetic tests related to Brugada Syndrome 3:

#	Genetic test	Affiliating Genes
1	Brugada Syndrome 3 ³⁰	CACNA1C

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Anatomical Context for Brugada Syndrome 3

MalaCards organs/tissues related to Brugada Syndrome 3:

⁴²

Heart

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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 )	Ahmed S...Cone JP	2013
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 )	Antzelevitch C...Wolpert C	2007

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Genes for Brugada Syndrome 3

Genes related to Brugada Syndrome 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	1027.31	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	17224476 20301690
2	CACNA1C-AS1	CACNA1C Antisense RNA 1	RNA Gene	7.23	GeneCards inferred via : Variants (show sections)

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Variations for Brugada Syndrome 3

ClinVar genetic disease variations for Brugada Syndrome 3:

⁶ (show all 26)

#	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.2T> C (p.Met1Thr)	single nucleotide variant	Uncertain significance	rs761378545	GRCh37	Chromosome 12, 2162730: 2162730
8	CACNA1C	NM_000719.6(CACNA1C): c.2T> C (p.Met1Thr)	single nucleotide variant	Uncertain significance	rs761378545	GRCh38	Chromosome 12, 2053564: 2053564
9	CACNA1C	NM_000719.6(CACNA1C): c.98A> G (p.Asn33Ser)	single nucleotide variant	Uncertain significance	rs535608443	GRCh37	Chromosome 12, 2224438: 2224438
10	CACNA1C	NM_000719.6(CACNA1C): c.98A> G (p.Asn33Ser)	single nucleotide variant	Uncertain significance	rs535608443	GRCh38	Chromosome 12, 2115272: 2115272
11	CACNA1C	NM_000719.6(CACNA1C): c.5120T> C (p.Val1707Ala)	single nucleotide variant	Uncertain significance	rs531161884	GRCh37	Chromosome 12, 2788638: 2788638
12	CACNA1C	NM_000719.6(CACNA1C): c.5120T> C (p.Val1707Ala)	single nucleotide variant	Uncertain significance	rs531161884	GRCh38	Chromosome 12, 2679472: 2679472
13	CACNA1C	NM_000719.6(CACNA1C): c.5731G> C (p.Gly1911Arg)	single nucleotide variant	Uncertain significance	rs374528680	GRCh38	Chromosome 12, 2686216: 2686216
14	CACNA1C	NM_000719.6(CACNA1C): c.5731G> C (p.Gly1911Arg)	single nucleotide variant	Uncertain significance	rs374528680	GRCh37	Chromosome 12, 2795382: 2795382
15	CACNA1C	NM_000719.6(CACNA1C): c.3679G> A (p.Val1227Ile)	single nucleotide variant	Uncertain significance	rs373124557	GRCh37	Chromosome 12, 2719827: 2719827
16	CACNA1C	NM_000719.6(CACNA1C): c.3679G> A (p.Val1227Ile)	single nucleotide variant	Uncertain significance	rs373124557	GRCh38	Chromosome 12, 2610661: 2610661
17	CACNA1C	NM_000719.6(CACNA1C): c.6011G> T (p.Gly2004Val)	single nucleotide variant	Uncertain significance	rs374991642	GRCh37	Chromosome 12, 2797839: 2797839
18	CACNA1C	NM_000719.6(CACNA1C): c.6011G> T (p.Gly2004Val)	single nucleotide variant	Uncertain significance	rs374991642	GRCh38	Chromosome 12, 2688673: 2688673
19	CACNA1C	NM_000719.6(CACNA1C): c.5456G> A (p.Arg1819Gln)	single nucleotide variant	Uncertain significance	rs764212214	GRCh37	Chromosome 12, 2791727: 2791727
20	CACNA1C	NM_000719.6(CACNA1C): c.5456G> A (p.Arg1819Gln)	single nucleotide variant	Uncertain significance	rs764212214	GRCh38	Chromosome 12, 2682561: 2682561
21	CACNA1C	NM_000719.6(CACNA1C): c.5098G> A (p.Gly1700Ser)	single nucleotide variant	Uncertain significance	rs761966966	GRCh38	Chromosome 12, 2679450: 2679450
22	CACNA1C	NM_000719.6(CACNA1C): c.5098G> A (p.Gly1700Ser)	single nucleotide variant	Uncertain significance	rs761966966	GRCh37	Chromosome 12, 2788616: 2788616
23	CACNA1C	NM_000719.6(CACNA1C): c.65G> T (p.Ser22Ile)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 12, 2224405: 2224405
24	CACNA1C	NM_000719.6(CACNA1C): c.65G> T (p.Ser22Ile)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 12, 2115239: 2115239
25	CACNA1C	NM_000719.6(CACNA1C): c.6001G> A (p.Gly2001Ser)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 12, 2797829: 2797829
26	CACNA1C	NM_000719.6(CACNA1C): c.6001G> A (p.Gly2001Ser)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 12, 2688663: 2688663

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Expression for Brugada Syndrome 3

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

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Pathways for Brugada Syndrome 3

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GO Terms for Brugada Syndrome 3

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Brugada Syndrome 3 (BRGDA3)

Aliases & Classifications for Brugada Syndrome 3

MalaCards integrated aliases for Brugada Syndrome 3:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Brugada Syndrome 3

Related Diseases for Brugada Syndrome 3

Diseases in the Brugada Syndrome family:

Diseases related to Brugada Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Brugada Syndrome 3

Human phenotypes related to Brugada Syndrome 3:

Clinical features from OMIM:

Drugs & Therapeutics for Brugada Syndrome 3

Genetic Tests for Brugada Syndrome 3

Genetic tests related to Brugada Syndrome 3:

Anatomical Context for Brugada Syndrome 3

MalaCards organs/tissues related to Brugada Syndrome 3:

Publications for Brugada Syndrome 3

Articles related to Brugada Syndrome 3:

Genes for Brugada Syndrome 3

Genes related to Brugada Syndrome 3 (1 elite genes):

Variations for Brugada Syndrome 3

ClinVar genetic disease variations for Brugada Syndrome 3:

Expression for Brugada Syndrome 3

Pathways for Brugada Syndrome 3

GO Terms for Brugada Syndrome 3

Sources for Brugada Syndrome 3