BRGDA3
MCID: BRG003
MIFTS: 39

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 56 12 52 73 29 13 6 15 71
Brgda3 56 12 73
Syndrome, Brugada, Type 3 39

Characteristics:

HPO:

31
brugada syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



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
UMLS 71 C2678478

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 familial long qt syndrome and ventricular fibrillation, paroxysmal familial, 1. 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 Sodium Channel Blockers and Anti-Arrhythmia Agents 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.

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 32)
# Related Disease Score Top Affiliating Genes
1 familial long qt syndrome 10.0 KCNE2 CACNA1C
2 ventricular fibrillation, paroxysmal familial, 1 9.9 KCNE2 CACNA1C
3 myasthenic syndrome, congenital, 5 9.9 KCNE2 CACNA1C
4 atrioventricular block 9.8 KCNE2 CACNA1C
5 sick sinus syndrome 9.7 CACNA1C ANK2
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 long qt syndrome 6 9.5 KCNE2 CACNA1C ANK2
10 long qt syndrome 1 9.5 KCNE2 CACNA1C ANK2
11 long qt syndrome 11 9.5 KCNE2 CACNA1C ANK2
12 long qt syndrome 5 9.5 KCNE2 CACNA1C ANK2
13 long qt syndrome 9 9.5 KCNE2 CACNA1C ANK2
14 sinoatrial node disease 9.5 KCNE2 CACNA1C ANK2
15 long qt syndrome 3 9.5 KCNE2 CACNA1C ANK2
16 jervell and lange-nielsen syndrome 1 9.5 KCNE2 CACNA1C ANK2
17 cardiac arrhythmia, ankyrin-b-related 9.5 KCNE2 CACNA1C ANK2
18 andersen cardiodysrhythmic periodic paralysis 9.4 KCNE2 CACNA1C ANK2
19 long qt syndrome 2 9.4 KCNE2 CACNA1C ANK2
20 heart conduction disease 9.4 KCNE2 CACNA1C ANK2
21 intrinsic cardiomyopathy 9.4 KCNE2 CACNA1C ANK2
22 familial atrial fibrillation 9.4 KCNE2 CACNA1C ANK2
23 atrial fibrillation 9.4 KCNE2 CACNA1C ANK2
24 wolff-parkinson-white syndrome 9.2 KCNE2 ANK2
25 bipolar disorder 9.2 PDE4B GRIK5 GRIK2 CACNA1C
26 brugada syndrome 9.2 KCNE2 CACNA1C-AS1 CACNA1C ANK2
27 cardiac arrhythmia 9.2 KCNE2 CACNA1C-AS1 CACNA1C ANK2
28 timothy syndrome 9.2 KCNE2 CACNA1C-AS1 CACNA1C ANK2
29 short qt syndrome 9.2 KCNE2 CACNA1C-AS1 CACNA1C ANK2
30 long qt syndrome 9.2 KCNE2 CACNA1C-AS1 CACNA1C ANK2
31 catecholaminergic polymorphic ventricular tachycardia 9.2 KCNE2 CACNA1C-AS1 CACNA1C ANK2
32 autism 8.7 PDE4B GRIK2 CACNA1C ANK2

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



Diseases related to Brugada Syndrome 3

Symptoms & Phenotypes for Brugada Syndrome 3

Human phenotypes related to Brugada Syndrome 3:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 syncope 31 HP:0001279
3 atrial fibrillation 31 HP:0005110
4 shortened qt interval 31 HP:0012232
5 ventricular arrhythmia 31 HP:0004308
6 j wave 31 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 Anti-Arrhythmia Agents
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

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:

40
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. 6 56
17224476 2007
2
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
3
Brugada Syndrome 6
20301690 2005
4
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 56
15655131 2005
5
CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers. 61
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
27635072 2016
7
[Heart rate turbulence in patients with ventricular tachy arrhythmias of noncoronary genesis]. 61
15940187 2005

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.6011G>T (p.Gly2004Val)SNV Conflicting interpretations of pathogenicity 456989 rs374991642 12:2797839-2797839 12:2688673-2688673
4 CACNA1C NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala)SNV Conflicting interpretations of pathogenicity 190622 rs531161884 12:2788638-2788638 12:2679472-2679472
5 CACNA1C NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)SNV Conflicting interpretations of pathogenicity 17634 rs121912775 12:2659186-2659186 12:2550020-2550020
6 CACNA1C NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)SNV Uncertain significance 191427 rs374528680 12:2795382-2795382 12:2686216-2686216
7 CACNA1C NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)SNV Uncertain significance 234984 rs373124557 12:2719827-2719827 12:2610661-2610661
8 CACNA1C NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln)SNV Uncertain significance 456980 rs764212214 12:2791727-2791727 12:2682561-2682561
9 CACNA1C NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)SNV Uncertain significance 526905 rs761966966 12:2788616-2788616 12:2679450-2679450
10 CACNA1C NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile)SNV Uncertain significance 578454 rs769703001 12:2224405-2224405 12:2115239-2115239
11 CACNA1C NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser)SNV Uncertain significance 575699 rs552478740 12:2797829-2797829 12:2688663-2688663
12 CACNA1C NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr)SNV Uncertain significance 190710 rs761378545 12:2162730-2162730 12:2053564-2053564
13 CACNA1C NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser)SNV Uncertain significance 190679 rs535608443 12:2224438-2224438 12:2115272-2115272

Expression for Brugada Syndrome 3

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

Pathways for Brugada Syndrome 3

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12 GRIK5 GRIK2 CACNA1C
2
Show member pathways
10.83 KCNE2 CACNA1C
3 10.55 KCNE2 CACNA1C ANK2

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 9.84 GRIK5 GRIK2 CACNA1C ANK2
2 cell junction GO:0030054 9.8 GRIK5 GRIK2 CACNA1C ANK2
3 synapse GO:0045202 9.78 GRIK5 GRIK2 CACNA1C ANK2
4 dendrite GO:0030425 9.73 GRIK5 GRIK2 CACNA1C
5 perikaryon GO:0043204 9.58 GRIK5 GRIK2 CACNA1C
6 presynaptic membrane GO:0042734 9.55 GRIK5 GRIK2
7 terminal bouton GO:0043195 9.52 GRIK5 GRIK2
8 T-tubule GO:0030315 9.51 CACNA1C ANK2
9 Z disc GO:0030018 9.5 PDE4B CACNA1C ANK2
10 hippocampal mossy fiber to CA3 synapse GO:0098686 9.46 GRIK5 GRIK2
11 postsynaptic density GO:0014069 9.46 PDE4B GRIK5 GRIK2 CACNA1C
12 voltage-gated calcium channel complex GO:0005891 9.43 PDE4B CACNA1C
13 ionotropic glutamate receptor complex GO:0008328 9.37 GRIK5 GRIK2
14 kainate selective glutamate receptor complex GO:0032983 9.26 GRIK5 GRIK2
15 postsynaptic density membrane GO:0098839 9.13 GRIK5 GRIK2 CACNA1C
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 9.43 GRIK5 GRIK2
2 ion channel activity GO:0005216 9.43 GRIK5 GRIK2 CACNA1C
3 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.4 GRIK5 GRIK2
4 ligand-gated ion channel activity GO:0015276 9.37 GRIK5 GRIK2
5 glutamate receptor activity GO:0008066 9.32 GRIK5 GRIK2
6 ionotropic glutamate receptor activity GO:0004970 9.16 GRIK5 GRIK2
7 ion channel binding GO:0044325 9.13 PDE4B KCNE2 ANK2
8 kainate selective glutamate receptor activity GO:0015277 8.62 GRIK5 GRIK2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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