BRGDA2
MCID: BRG006
MIFTS: 32

Brugada Syndrome 2 (BRGDA2)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Brugada Syndrome 2

MalaCards integrated aliases for Brugada Syndrome 2:

Name: Brugada Syndrome 2 57 12 74 29 13 6 72
Brgda2 57 12 74
Brugada Syndrome, Type 2 40

Characteristics:

HPO:

32
brugada syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110219
MeSH 44 D053840
ICD10 33 I49.8
MedGen 42 C2673193
UMLS 72 C2673193

Summaries for Brugada Syndrome 2

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 genetic heterogeneity of Brugada syndrome, see BRGDA1 (601144). (611777)

MalaCards based summary : Brugada Syndrome 2, also known as brgda2, is related to brugada syndrome and long qt syndrome. An important gene associated with Brugada Syndrome 2 is GPD1L (Glycerol-3-Phosphate Dehydrogenase 1 Like), and among its related pathways/superpathways is Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. 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 prolonged pr interval

Disease Ontology : 12 A Brugada syndrome that has material basis in heterozygous mutation in the GPD1L gene on chromosome 3p22.

UniProtKB/Swiss-Prot : 74 Brugada syndrome 2: 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 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brugada syndrome 29.1 SCN5A GPD1L
2 long qt syndrome 28.9 SCN5A GPD1L
3 cardiac conduction defect 9.9
4 long qt syndrome 3 9.9
5 right bundle branch block 9.5 SCN5A GPD1L
6 sudden infant death syndrome 9.2 SCN5A GPD1L

Graphical network of the top 20 diseases related to Brugada Syndrome 2:



Diseases related to Brugada Syndrome 2

Symptoms & Phenotypes for Brugada Syndrome 2

Human phenotypes related to Brugada Syndrome 2:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 occasional (7.5%) HP:0001645
2 prolonged pr interval 32 very rare (1%) HP:0012248
3 first degree atrioventricular block 32 HP:0011705
4 syncope 32 HP:0001279
5 right bundle branch block 32 HP:0011712
6 ventricular fibrillation 32 HP:0001663

Clinical features from OMIM:

611777

Drugs & Therapeutics for Brugada Syndrome 2

Drugs for Brugada Syndrome 2 (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 2

Genetic Tests for Brugada Syndrome 2

Genetic tests related to Brugada Syndrome 2:

# Genetic test Affiliating Genes
1 Brugada Syndrome 2 29 GPD1L

Anatomical Context for Brugada Syndrome 2

MalaCards organs/tissues related to Brugada Syndrome 2:

41
Heart, Testes

Publications for Brugada Syndrome 2

Articles related to Brugada Syndrome 2:

(show all 11)
# Title Authors PMID Year
1
Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. 8 71
17967976 2007
2
Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. 8 71
17967977 2007
3
Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3. 8 71
11839626 2002
4
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 71
23994779 2013
5
Brugada Syndrome 71
20301690 2005
6
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 8
15655131 2005
7
Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience. 38
25194972 2014
8
The age-dependence of atrial arrhythmogenicity in Scn5a+/- murine hearts reflects alterations in action potential propagation and recovery. 38
22486578 2012
9
Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias. 38
21616715 2011
10
Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. 38
15998675 2005
11
[Long QT syndrome and Brugada syndrome: 2 aspects of the same disease?]. 38
11307783 2001

Variations for Brugada Syndrome 2

ClinVar genetic disease variations for Brugada Syndrome 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GPD1L NM_015141.3(GPD1L): c.839C> T (p.Ala280Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72552291 3:32200588-32200588 3:32159096-32159096
2 GPD1L NM_015141.3(GPD1L): c.247G> A (p.Glu83Lys) single nucleotide variant Uncertain significance rs72552292 3:32180100-32180100 3:32138608-32138608
3 GPD1L NM_015141.3(GPD1L): c.257A> G (p.Gln86Arg) single nucleotide variant Uncertain significance 3:32180110-32180110 3:32138618-32138618
4 GPD1L NM_015141.3(GPD1L): c.817C> T (p.Arg273Cys) single nucleotide variant Uncertain significance rs72552294 3:32200566-32200566 3:32159074-32159074
5 GPD1L NM_015141.3(GPD1L): c.370A> G (p.Ile124Val) single nucleotide variant Benign/Likely benign rs72552293 3:32181723-32181723 3:32140231-32140231

Expression for Brugada Syndrome 2

Search GEO for disease gene expression data for Brugada Syndrome 2.

Pathways for Brugada Syndrome 2

Pathways related to Brugada Syndrome 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.83 SCN5A GPD1L

GO Terms for Brugada Syndrome 2

Biological processes related to Brugada Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of heart rate GO:0002027 9.26 SCN5A GPD1L
2 ventricular cardiac muscle cell action potential GO:0086005 9.16 SCN5A GPD1L
3 positive regulation of sodium ion transport GO:0010765 8.96 SCN5A GPD1L
4 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 8.62 SCN5A GPD1L

Molecular functions related to Brugada Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 8.62 SCN5A GPD1L

Sources for Brugada Syndrome 2

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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