BRGDA2
MCID: BRG006
MIFTS: 34

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 56 12 73 29 13 6 15 71
Brgda2 56 12 73
Syndrome, Brugada, Type 2 39

Characteristics:

HPO:

31
brugada syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110219
OMIM 56 611777
OMIM Phenotypic Series 56 PS601144
MeSH 43 D053840
ICD10 32 I49.8
MedGen 41 C2673193
UMLS 71 C2673193

Summaries for Brugada Syndrome 2

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

MalaCards based summary : Brugada Syndrome 2, also known as brgda2, is related to long qt syndrome 9 and right bundle branch block. 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 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 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 : 73 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

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 occasional (7.5%) HP:0001645
2 prolonged pr interval 31 very rare (1%) HP:0012248
3 syncope 31 HP:0001279
4 right bundle branch block 31 HP:0011712
5 first degree atrioventricular block 31 HP:0011705
6 ventricular fibrillation 31 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 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 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:

40
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. 6 56
17967976 2007
2
Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. 56 6
17967977 2007
3
Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3. 56 6
11839626 2002
4
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
5
Brugada Syndrome 6
20301690 2005
6
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 56
15655131 2005
7
Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience. 61
25194972 2014
8
The age-dependence of atrial arrhythmogenicity in Scn5a+/- murine hearts reflects alterations in action potential propagation and recovery. 61
22486578 2012
9
Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias. 61
21616715 2011
10
Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. 61
15998675 2005
11
[Long QT syndrome and Brugada syndrome: 2 aspects of the same disease?]. 61
11307783 2001

Variations for Brugada Syndrome 2

ClinVar genetic disease variations for Brugada Syndrome 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GPD1L NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)SNV Conflicting interpretations of pathogenicity 786 rs72552291 3:32200588-32200588 3:32159096-32159096
2 GPD1L NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)SNV Conflicting interpretations of pathogenicity 788 rs72552293 3:32181723-32181723 3:32140231-32140231
3 GPD1L NM_015141.3(GPD1L):c.817C>T (p.Arg273Cys)SNV Uncertain significance 789 rs72552294 3:32200566-32200566 3:32159074-32159074
4 GPD1L NM_015141.3(GPD1L):c.247G>A (p.Glu83Lys)SNV Uncertain significance 787 rs72552292 3:32180100-32180100 3:32138608-32138608
5 GPD1L NM_015141.3(GPD1L):c.257A>G (p.Gln86Arg)SNV Uncertain significance 560688 rs755240955 3:32180110-32180110 3:32138618-32138618

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 chemotaxis GO:0006935 9.32 CMTM8 CKLF
2 regulation of heart rate GO:0002027 9.26 SCN5A GPD1L
3 ventricular cardiac muscle cell action potential GO:0086005 9.16 SCN5A GPD1L
4 positive regulation of sodium ion transport GO:0010765 8.96 SCN5A GPD1L
5 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 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
Content
Loading form....