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 ⁵⁶ ¹² ⁵² ⁷³ ²⁹ ¹³ ⁶ ¹⁵ ⁷¹

Brgda3 ⁵⁶ ¹² ⁷³

Brugada Syndrome, Type 3 ³⁹

Characteristics:

HPO:

³¹

brugada syndrome 3:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

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 ⁵⁶ 611875

OMIM Phenotypic Series ⁵⁶ PS601144

MeSH ⁴³ D053840

ICD10 ³² I49.8

MedGen ⁴¹ C2678478

SNOMED-CT via HPO ⁶⁸ 263681008 271594007 272030005 more

UMLS ⁷¹ C2678478

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Summaries for Brugada Syndrome 3

OMIM : ⁵⁶ 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 familial long qt syndrome. An important gene associated with Brugada Syndrome 3 is CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C), and among its related pathways/superpathways are Circadian entrainment and Phase 0 - rapid depolarisation. The drugs Anti-Arrhythmia Agents and Sodium Channel Blockers 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 : ⁷³ 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:

(show all 31)

#	Related Disease	Score	Top Affiliating Genes
1	brugada syndrome	28.8	KCNE2 CACNA1C-AS1 CACNA1C ANK2
2	familial long qt syndrome	10.0	KCNE2 CACNA1C
3	syncope	10.0
4	ventricular fibrillation, paroxysmal familial, 1	9.9	KCNE2 CACNA1C
5	myasthenic syndrome, congenital, 5	9.8	KCNE2 CACNA1C
6	long qt syndrome 13	9.7	KCNE2 ANK2
7	long qt syndrome 12	9.7	KCNE2 ANK2
8	long qt syndrome 10	9.6	KCNE2 ANK2
9	atrioventricular block	9.6	KCNE2 CACNA1C
10	sick sinus syndrome	9.6	CACNA1C ANK2
11	long qt syndrome 6	9.5	KCNE2 CACNA1C ANK2
12	long qt syndrome 1	9.5	KCNE2 CACNA1C ANK2
13	long qt syndrome 11	9.5	KCNE2 CACNA1C ANK2
14	long qt syndrome 5	9.5	KCNE2 CACNA1C ANK2
15	long qt syndrome 9	9.5	KCNE2 CACNA1C ANK2
16	sinoatrial node disease	9.5	KCNE2 CACNA1C ANK2
17	jervell and lange-nielsen syndrome 1	9.5	KCNE2 CACNA1C ANK2
18	long qt syndrome 3	9.5	KCNE2 CACNA1C ANK2
19	andersen cardiodysrhythmic periodic paralysis	9.4	KCNE2 CACNA1C ANK2
20	long qt syndrome 2	9.4	KCNE2 CACNA1C ANK2
21	heart conduction disease	9.4	KCNE2 CACNA1C ANK2
22	intrinsic cardiomyopathy	9.4	KCNE2 CACNA1C ANK2
23	familial atrial fibrillation	9.4	KCNE2 CACNA1C ANK2
24	atrial fibrillation	9.3	KCNE2 CACNA1C ANK2
25	timothy syndrome	9.2	KCNE2 CACNA1C-AS1 CACNA1C ANK2
26	cardiac arrhythmia	9.2	KCNE2 CACNA1C-AS1 CACNA1C ANK2
27	short qt syndrome	9.2	KCNE2 CACNA1C-AS1 CACNA1C ANK2
28	bipolar disorder	9.2	PDE4B GRIK5 GRIK2 CACNA1C
29	long qt syndrome	9.2	KCNE2 CACNA1C-AS1 CACNA1C ANK2
30	catecholaminergic polymorphic ventricular tachycardia	9.2	KCNE2 CACNA1C-AS1 CACNA1C ANK2
31	autism	8.8	PDE4B GRIK2 CACNA1C ANK2

Graphical network of the top 20 diseases related to Brugada Syndrome 3:

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Symptoms & Phenotypes for Brugada Syndrome 3

Human phenotypes related to Brugada Syndrome 3:

³¹ (show all 6)

#	Description	HPO Source Accession
1	sudden cardiac death ³¹	HP:0001645
2	syncope ³¹	HP:0001279
3	atrial fibrillation ³¹	HP:0005110
4	ventricular arrhythmia ³¹	HP:0004308
5	shortened qt interval ³¹	HP:0012232
6	j wave ³¹	HP:0012272

Clinical features from OMIM:

611875

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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	Anti-Arrhythmia Agents
2	Sodium Channel Blockers
3	Diuretics, Potassium Sparing

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

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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 ²⁹	CACNA1C

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Anatomical Context for Brugada Syndrome 3

MalaCards organs/tissues related to Brugada Syndrome 3:

⁴⁰

Heart, Testes

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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. ⁵⁶ ⁶	Antzelevitch C...Wolpert C	17224476	2007
2	Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. ⁶	Priori SG...Asia Pacific Heart Rhythm Society	23994779	2013
3	Brugada Syndrome ⁶	Brugada R...Hong K	20301690	2005
4	Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. ⁵⁶	Antzelevitch C...Wilde A	15655131	2005
5	CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers. ⁶¹	Mio C...Damante G	31953239	2020
6	Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims: A Report From the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry. ⁶¹	Steinberg C...Krahn AD	27635072	2016
7	[Heart rate turbulence in patients with ventricular tachy arrhythmias of noncoronary genesis]. ⁶¹	Makarov LM...Kazantseva MA	15940187	2005

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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	1023.91	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20301690 17224476 23994779
2	CACNA1C-AS1	CACNA1C Antisense RNA 1	RNA Gene	8.17	GeneCards inferred via : Variants (show sections)
3	GRIK5	Glutamate Ionotropic Receptor Kainate Type Subunit 5	Protein Coding	5.71	DISEASES inferred ¹⁵
4	PDE4B	Phosphodiesterase 4B	Protein Coding	5.68	DISEASES inferred ¹⁵
5	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	5.58	DISEASES inferred ¹⁵
6	GRIK2	Glutamate Ionotropic Receptor Kainate Type Subunit 2	Protein Coding	5.58	DISEASES inferred ¹⁵
7	ANK2	Ankyrin 2	Protein Coding	5.55	DISEASES inferred ¹⁵
8	HPS5	HPS5 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2	Protein Coding	5.25	DISEASES inferred ¹⁵

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Variations for Brugada Syndrome 3

ClinVar genetic disease variations for Brugada Syndrome 3:

⁶ (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CACNA1C	NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val)	SNV	Pathogenic	17635	rs121912776	12:2224456-2224456	12:2115290-2115290
2	CACNA1C	NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)	SNV	Conflicting interpretations of pathogenicity	67556	rs199473660	12:2797868-2797868	12:2688702-2688702
3	CACNA1C	NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala)	SNV	Conflicting interpretations of pathogenicity	190622	rs531161884	12:2788638-2788638	12:2679472-2679472
4	CACNA1C	NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)	SNV	Conflicting interpretations of pathogenicity	17634	rs121912775	12:2659186-2659186	12:2550020-2550020
5	CACNA1C	NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)	SNV	Uncertain significance	191427	rs374528680	12:2795382-2795382	12:2686216-2686216
6	CACNA1C	NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr)	SNV	Uncertain significance	190710	rs761378545	12:2162730-2162730	12:2053564-2053564
7	CACNA1C	NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser)	SNV	Uncertain significance	190679	rs535608443	12:2224438-2224438	12:2115272-2115272
8	CACNA1C	NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)	SNV	Uncertain significance	234984	rs373124557	12:2719827-2719827	12:2610661-2610661
9	CACNA1C	NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val)	SNV	Uncertain significance	456989	rs374991642	12:2797839-2797839	12:2688673-2688673
10	CACNA1C	NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln)	SNV	Uncertain significance	456980	rs764212214	12:2791727-2791727	12:2682561-2682561
11	CACNA1C	NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)	SNV	Uncertain significance	526905	rs761966966	12:2788616-2788616	12:2679450-2679450
12	CACNA1C	NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile)	SNV	Uncertain significance	578454	rs769703001	12:2224405-2224405	12:2115239-2115239
13	CACNA1C	NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser)	SNV	Uncertain significance	575699	rs552478740	12:2797829-2797829	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

Pathways related to Brugada Syndrome 3 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Circadian entrainment ³⁶ Show member pathways Cholinergic synapse ³⁶ Dopaminergic synapse ³⁶ Glutamatergic synapse ³⁶ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁴	12	GRIK5 GRIK2 CACNA1C
2	Phase 0 - rapid depolarisation ⁶⁵ Show member pathways Phase 2 - plateau phase ⁶⁵	10.83	KCNE2 CACNA1C
3	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	10.55	KCNE2 CACNA1C ANK2

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GO Terms for Brugada Syndrome 3

Cellular components related to Brugada Syndrome 3 according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell	GO:0005623	9.85	GRIK5 GRIK2 CACNA1C ANK2
2	cell junction	GO:0030054	9.8	GRIK5 GRIK2 CACNA1C ANK2
3	synapse	GO:0045202	9.76	GRIK5 GRIK2 CACNA1C ANK2
4	dendrite	GO:0030425	9.73	GRIK5 GRIK2 CACNA1C
5	presynaptic membrane	GO:0042734	9.54	GRIK5 GRIK2
6	terminal bouton	GO:0043195	9.52	GRIK5 GRIK2
7	T-tubule	GO:0030315	9.51	CACNA1C ANK2
8	perikaryon	GO:0043204	9.5	GRIK5 GRIK2 CACNA1C
9	hippocampal mossy fiber to CA3 synapse	GO:0098686	9.48	GRIK5 GRIK2
10	postsynaptic density	GO:0014069	9.46	PDE4B GRIK5 GRIK2 CACNA1C
11	postsynaptic density membrane	GO:0098839	9.43	GRIK5 GRIK2
12	Z disc	GO:0030018	9.43	PDE4B CACNA1C ANK2
13	voltage-gated calcium channel complex	GO:0005891	9.4	PDE4B CACNA1C
14	ionotropic glutamate receptor complex	GO:0008328	9.37	GRIK5 GRIK2
15	kainate selective glutamate receptor complex	GO:0032983	8.96	GRIK5 GRIK2
16	postsynaptic membrane	GO:0045211	8.92	GRIK5 GRIK2 CACNA1C ANK2

Biological processes related to Brugada Syndrome 3 according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.73	KCNE2 GRIK5 GRIK2 CACNA1C
2	modulation of chemical synaptic transmission	GO:0050804	9.55	GRIK5 GRIK2
3	cellular response to drug	GO:0035690	9.54	PDE4B KCNE2
4	excitatory postsynaptic potential	GO:0060079	9.52	GRIK5 GRIK2
5	positive regulation of neuron apoptotic process	GO:0043525	9.51	GRIK5 GRIK2
6	cardiac conduction	GO:0061337	9.49	KCNE2 CACNA1C
7	synaptic transmission, glutamatergic	GO:0035249	9.48	GRIK5 GRIK2
8	receptor clustering	GO:0043113	9.46	GRIK5 GRIK2
9	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.4	CACNA1C ANK2
10	ionotropic glutamate receptor signaling pathway	GO:0035235	9.37	GRIK5 GRIK2
11	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.32	KCNE2 ANK2
12	ventricular cardiac muscle cell action potential	GO:0086005	9.26	KCNE2 ANK2
13	cardiac muscle cell action potential involved in contraction	GO:0086002	9.16	KCNE2 CACNA1C
14	regulation of cardiac muscle cell contraction	GO:0086004	8.96	PDE4B ANK2
15	regulation of heart rate by cardiac conduction	GO:0086091	8.8	KCNE2 CACNA1C ANK2

Molecular functions related to Brugada Syndrome 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	PDZ domain binding	GO:0030165	9.4	GRIK5 GRIK2
2	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	GO:1904315	9.37	GRIK5 GRIK2
3	ion channel activity	GO:0005216	9.33	GRIK5 GRIK2 CACNA1C
4	ligand-gated ion channel activity	GO:0015276	9.32	GRIK5 GRIK2
5	glutamate receptor activity	GO:0008066	9.26	GRIK5 GRIK2
6	ion channel binding	GO:0044325	9.13	PDE4B KCNE2 ANK2
7	kainate selective glutamate receptor activity	GO:0015277	8.62	GRIK5 GRIK2

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Sources for Brugada Syndrome 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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:

Graphical network of the top 20 diseases related to Brugada Syndrome 3:

Symptoms & Phenotypes for Brugada Syndrome 3

Human phenotypes related to Brugada Syndrome 3:

Clinical features from OMIM:

Drugs & Therapeutics for Brugada Syndrome 3

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

Interventional clinical trials:

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

Pathways related to Brugada Syndrome 3 according to GeneCards Suite gene sharing:

GO Terms for Brugada Syndrome 3

Cellular components related to Brugada Syndrome 3 according to GeneCards Suite gene sharing:

Biological processes related to Brugada Syndrome 3 according to GeneCards Suite gene sharing:

Molecular functions related to Brugada Syndrome 3 according to GeneCards Suite gene sharing:

Sources for Brugada Syndrome 3