BRGDA2
MCID: BRG006
MIFTS: 30

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 75 29 13 6 73
Brgda2 57 12 75
Brugada Syndrome, Type 2 40

Characteristics:

HPO:

32
brugada syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611777
Disease Ontology 12 DOID:0110219
ICD10 33 I49.8
MedGen 42 C2673193
MeSH 44 D053840
UMLS 73 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. Affiliated tissues include heart and testes, and related phenotypes are sudden cardiac death and first degree atrioventricular block

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

UniProtKB/Swiss-Prot : 75 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 29.5 GPD1L SCN5A
2 long qt syndrome 29.4 GPD1L SCN5A
3 right bundle branch block 9.8 GPD1L SCN5A
4 sudden infant death syndrome 9.7 GPD1L SCN5A

Symptoms & Phenotypes for Brugada Syndrome 2

Clinical features from OMIM:

611777

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 first degree atrioventricular block 32 HP:0011705
3 syncope 32 HP:0001279
4 right bundle branch block 32 HP:0011712
5 ventricular fibrillation 32 HP:0001663
6 prolonged pr interval 32 very rare (1%) HP:0012248

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 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:

# Title Authors Year
1
[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 rs755240955 GRCh37 Chromosome 3, 32180110: 32180110
10 GPD1L NM_015141.3(GPD1L): c.257A> G (p.Gln86Arg) single nucleotide variant Uncertain significance rs755240955 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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