BRGDA3
MCID: BRG003
MIFTS: 36

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 20 72 29 13 6 15 70
Brgda3 57 12 72
Syndrome, Brugada, Type 3 39

Characteristics:

HPO:

31
brugada syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110220
OMIM® 57 611875
OMIM Phenotypic Series 57 PS601144
MeSH 44 D053840
ICD10 32 I49.8
MedGen 41 C2678478
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Brugada Syndrome 3, also known as brgda3, is related to ventricular fibrillation, paroxysmal familial, 1 and short 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 GABAergic synapse. 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 : 72 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 34)
# Related Disease Score Top Affiliating Genes
1 ventricular fibrillation, paroxysmal familial, 1 10.0 KCNE2 CACNA1C
2 short qt syndrome 10.0 KCNE2 CACNA1C
3 bipolar i disorder 10.0 DRD1 CACNA1C
4 myasthenic syndrome, congenital, 5 9.9 KCNE2 CACNA1C
5 atrioventricular block 9.8 KCNE2 CACNA1C
6 sinoatrial node disease 9.8 CACNA1C ANK2
7 long qt syndrome 12 9.8 KCNE2 ANK2
8 long qt syndrome 10 9.8 KCNE2 ANK2
9 long qt syndrome 13 9.8 KCNE2 ANK2
10 sick sinus syndrome 9.7 CACNA1C ANK2
11 long qt syndrome 1 9.7 KCNE2 CACNA1C ANK2
12 long qt syndrome 11 9.7 KCNE2 CACNA1C ANK2
13 long qt syndrome 5 9.7 KCNE2 CACNA1C ANK2
14 long qt syndrome 6 9.7 KCNE2 CACNA1C ANK2
15 long qt syndrome 9 9.6 KCNE2 CACNA1C ANK2
16 long qt syndrome 3 9.6 KCNE2 CACNA1C ANK2
17 andersen cardiodysrhythmic periodic paralysis 9.6 KCNE2 CACNA1C ANK2
18 cardiac arrhythmia, ankyrin-b-related 9.6 KCNE2 CACNA1C ANK2
19 jervell and lange-nielsen syndrome 1 9.6 KCNE2 CACNA1C ANK2
20 long qt syndrome 2 9.6 KCNE2 CACNA1C ANK2
21 intrinsic cardiomyopathy 9.6 KCNE2 CACNA1C ANK2
22 familial atrial fibrillation 9.6 KCNE2 CACNA1C ANK2
23 heart conduction disease 9.6 KCNE2 CACNA1C ANK2
24 familial long qt syndrome 9.5 KCNE2 ANK2
25 brugada syndrome 9.5 KCNE2 CACNA1C-AS1 CACNA1C ANK2
26 timothy syndrome 9.5 KCNE2 CACNA1C-AS1 CACNA1C ANK2
27 cardiac arrhythmia 9.5 KCNE2 CACNA1C-AS1 CACNA1C ANK2
28 long qt syndrome 9.5 KCNE2 CACNA1C-AS1 CACNA1C ANK2
29 catecholaminergic polymorphic ventricular tachycardia 9.5 KCNE2 CACNA1C-AS1 CACNA1C ANK2
30 bipolar disorder 9.3 PDE4B GRIK5 GRIK2 DRD1 CACNA1C
31 schizophrenia 9.2 PDE4B GRIK5 GRIK2 DRD1 CACNA1C
32 autism spectrum disorder 9.2 GRIK2 DRD1 CACNA1C ANK2
33 autism 9.0 PDE4B GRIK2 DRD1 CACNA1C ANK2
34 disease of mental health 8.8 PDE4B GRIK5 GRIK2 DRD1 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 (Updated 20-May-2021)

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:

40
Heart

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. 57 6
17224476 2007
2
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 57
15655131 2005
3
CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers. 61
31953239 2020
4
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
5
[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 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1C NM_000719.7(CACNA1C):c.4820del (p.Pro1607fs) Deletion Pathogenic 1030882 GRCh37: 12:2783796-2783796
GRCh38: 12:2674630-2674630
2 CACNA1C NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) SNV Pathogenic 17634 rs121912775 GRCh37: 12:2659186-2659186
GRCh38: 12:2550020-2550020
3 CACNA1C NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val) SNV Pathogenic 17635 rs121912776 GRCh37: 12:2224456-2224456
GRCh38: 12:2115290-2115290
4 CACNA1C NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala) SNV Likely pathogenic 973262 GRCh37: 12:2566837-2566837
GRCh38: 12:2457671-2457671
5 CACNA1C NM_000719.7(CACNA1C):c.4436T>C (p.Phe1479Ser) SNV Uncertain significance 992575 GRCh37: 12:2774784-2774784
GRCh38: 12:2665618-2665618
6 CACNA1C NM_000719.7(CACNA1C):c.200G>A (p.Ser67Asn) SNV Uncertain significance 856436 GRCh37: 12:2224540-2224540
GRCh38: 12:2115374-2115374
7 CACNA1C NM_000719.7(CACNA1C):c.694G>C (p.Asp232His) SNV Uncertain significance 1030883 GRCh37: 12:2566809-2566809
GRCh38: 12:2457643-2457643
8 CACNA1C-AS1 , CACNA1C NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) SNV Uncertain significance 191427 rs374528680 GRCh37: 12:2795382-2795382
GRCh38: 12:2686216-2686216
9 CACNA1C-AS1 , CACNA1C NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) SNV Uncertain significance 67556 rs199473660 GRCh37: 12:2797868-2797868
GRCh38: 12:2688702-2688702
10 CACNA1C NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) SNV Uncertain significance 234984 rs373124557 GRCh37: 12:2719827-2719827
GRCh38: 12:2610661-2610661
11 CACNA1C-AS1 , CACNA1C NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) SNV Uncertain significance 526905 rs761966966 GRCh37: 12:2788616-2788616
GRCh38: 12:2679450-2679450
12 CACNA1C-AS1 , CACNA1C NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) SNV Uncertain significance 190622 rs531161884 GRCh37: 12:2788638-2788638
GRCh38: 12:2679472-2679472
13 CACNA1C-AS1 , CACNA1C NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln) SNV Uncertain significance 456980 rs764212214 GRCh37: 12:2791727-2791727
GRCh38: 12:2682561-2682561
14 CACNA1C-AS1 , CACNA1C NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser) SNV Uncertain significance 575699 rs552478740 GRCh37: 12:2797829-2797829
GRCh38: 12:2688663-2688663
15 CACNA1C-AS1 , CACNA1C NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) SNV Uncertain significance 456989 rs374991642 GRCh37: 12:2797839-2797839
GRCh38: 12:2688673-2688673
16 CACNA1C NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) SNV Uncertain significance 190710 rs761378545 GRCh37: 12:2162730-2162730
GRCh38: 12:2053564-2053564
17 CACNA1C NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile) SNV Uncertain significance 578454 rs769703001 GRCh37: 12:2224405-2224405
GRCh38: 12:2115239-2115239
18 CACNA1C NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) SNV Uncertain significance 190679 rs535608443 GRCh37: 12:2224438-2224438
GRCh38: 12:2115272-2115272

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

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.72 GRIK5 GRIK2 DRD1 CACNA1C ANK2
2 dendrite GO:0030425 9.71 GRIK5 GRIK2 DRD1 CACNA1C
3 synapse GO:0045202 9.65 GRIK5 GRIK2 DRD1 CACNA1C ANK2
4 perikaryon GO:0043204 9.63 GRIK5 GRIK2 CACNA1C
5 presynaptic membrane GO:0042734 9.54 GRIK5 GRIK2
6 Z disc GO:0030018 9.54 PDE4B CACNA1C ANK2
7 terminal bouton GO:0043195 9.52 GRIK5 GRIK2
8 T-tubule GO:0030315 9.51 CACNA1C ANK2
9 hippocampal mossy fiber to CA3 synapse GO:0098686 9.49 GRIK5 GRIK2
10 voltage-gated calcium channel complex GO:0005891 9.48 PDE4B CACNA1C
11 postsynaptic density GO:0014069 9.46 PDE4B GRIK5 GRIK2 CACNA1C
12 ionotropic glutamate receptor complex GO:0008328 9.43 GRIK5 GRIK2
13 kainate selective glutamate receptor complex GO:0032983 8.96 GRIK5 GRIK2
14 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 16)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.76 KCNE2 GRIK5 GRIK2 CACNA1C
2 modulation of chemical synaptic transmission GO:0050804 9.56 GRIK5 GRIK2
3 cellular response to drug GO:0035690 9.55 PDE4B KCNE2
4 excitatory postsynaptic potential GO:0060079 9.54 GRIK5 GRIK2
5 positive regulation of neuron apoptotic process GO:0043525 9.52 GRIK5 GRIK2
6 cardiac conduction GO:0061337 9.51 KCNE2 CACNA1C
7 synaptic transmission, glutamatergic GO:0035249 9.49 GRIK5 GRIK2
8 receptor clustering GO:0043113 9.48 GRIK5 GRIK2
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.43 CACNA1C ANK2
10 ionotropic glutamate receptor signaling pathway GO:0035235 9.4 GRIK5 GRIK2
11 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.37 KCNE2 ANK2
12 ventricular cardiac muscle cell action potential GO:0086005 9.32 KCNE2 ANK2
13 cardiac muscle cell action potential involved in contraction GO:0086002 9.26 KCNE2 CACNA1C
14 regulation of cardiac muscle cell contraction GO:0086004 9.16 PDE4B ANK2
15 positive regulation of potassium ion transport GO:0043268 8.96 DRD1 ANK2
16 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 ion channel activity GO:0005216 9.5 GRIK5 GRIK2 CACNA1C
2 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.4 GRIK5 GRIK2
3 ligand-gated ion channel activity GO:0015276 9.37 GRIK5 GRIK2
4 ionotropic glutamate receptor activity GO:0004970 9.26 GRIK5 GRIK2
5 glutamate receptor activity GO:0008066 9.16 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

Sources for Brugada Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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