BRGDA2
MCID: BRG006
MIFTS: 25

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 58 12 76 30 13 6 74
Brgda2 58 12 76
Brugada Syndrome, Type 2 41

Characteristics:

HPO:

33
brugada syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110219
OMIM 58 611777
MeSH 45 D053840
ICD10 34 I49.8
MedGen 43 C2673193
UMLS 74 C2673193

Summaries for Brugada Syndrome 2

OMIM : 58 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. Affiliated tissues include heart, 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 : 76 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 29.4 GPD1L SCN5A
2 long qt syndrome 29.2 GPD1L SCN5A
3 right bundle branch block 9.7 GPD1L SCN5A
4 sudden infant death syndrome 9.5 GPD1L SCN5A

Symptoms & Phenotypes for Brugada Syndrome 2

Human phenotypes related to Brugada Syndrome 2:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 occasional (7.5%) HP:0001645
2 prolonged pr interval 33 very rare (1%) HP:0012248
3 first degree atrioventricular block 33 HP:0011705
4 syncope 33 HP:0001279
5 right bundle branch block 33 HP:0011712
6 ventricular fibrillation 33 HP:0001663

Clinical features from OMIM:

611777

Drugs & Therapeutics for Brugada Syndrome 2

Search Clinical Trials , 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 30 GPD1L

Anatomical Context for Brugada Syndrome 2

MalaCards organs/tissues related to Brugada Syndrome 2:

42
Heart

Publications for Brugada Syndrome 2

Articles related to Brugada Syndrome 2:

# Title Authors Year
1
Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. ( 17967976 )
2007
2
Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. ( 17967977 )
2007
3
Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3. ( 11839626 )
2002
4
[Long QT syndrome and Brugada syndrome: 2 aspects of the same disease?]. ( 11307783 )
2001

Variations for Brugada Syndrome 2

ClinVar genetic disease variations for Brugada Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GPD1L NM_015141.3(GPD1L): c.839C> T (p.Ala280Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72552291 GRCh37 Chromosome 3, 32200588: 32200588
2 GPD1L NM_015141.3(GPD1L): c.839C> T (p.Ala280Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72552291 GRCh38 Chromosome 3, 32159096: 32159096
3 GPD1L NM_015141.3(GPD1L): c.247G> A (p.Glu83Lys) single nucleotide variant Uncertain significance rs72552292 GRCh37 Chromosome 3, 32180100: 32180100
4 GPD1L NM_015141.3(GPD1L): c.247G> A (p.Glu83Lys) single nucleotide variant Uncertain significance rs72552292 GRCh38 Chromosome 3, 32138608: 32138608
5 GPD1L NM_015141.3(GPD1L): c.370A> G (p.Ile124Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72552293 GRCh37 Chromosome 3, 32181723: 32181723
6 GPD1L NM_015141.3(GPD1L): c.370A> G (p.Ile124Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72552293 GRCh38 Chromosome 3, 32140231: 32140231
7 GPD1L NM_015141.3(GPD1L): c.817C> T (p.Arg273Cys) single nucleotide variant Uncertain significance rs72552294 GRCh37 Chromosome 3, 32200566: 32200566
8 GPD1L NM_015141.3(GPD1L): c.817C> T (p.Arg273Cys) single nucleotide variant Uncertain significance rs72552294 GRCh38 Chromosome 3, 32159074: 32159074
9 GPD1L NM_015141.3(GPD1L): c.257A> G (p.Gln86Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 32180110: 32180110
10 GPD1L NM_015141.3(GPD1L): c.257A> G (p.Gln86Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 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 10.84 GPD1L SCN5A

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 GPD1L SCN5A
2 ventricular cardiac muscle cell action potential GO:0086005 9.16 GPD1L SCN5A
3 positive regulation of sodium ion transport GO:0010765 8.96 GPD1L SCN5A
4 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 8.62 GPD1L SCN5A

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 GPD1L SCN5A

Sources for Brugada Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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