MCID: BRG010
MIFTS: 16

Brugada Syndrome 8

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Brugada Syndrome 8

MalaCards integrated aliases for Brugada Syndrome 8:

Name: Brugada Syndrome 8 53 12 71 28 13 69
Brgda8 53 12 71

Classifications:



External Ids:

OMIM 53 613123
Disease Ontology 12 DOID:0110225
ICD10 32 I49.8
MedGen 39 C2751083
MeSH 41 D053840
SNOMED-CT via HPO 65 25569003 164931005 76388001
UMLS 69 C2751083

Summaries for Brugada Syndrome 8

OMIM : 53 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). (613123)

MalaCards based summary : Brugada Syndrome 8, is also known as brgda8, and has symptoms including ventricular tachycardia and st segment elevation. An important gene associated with Brugada Syndrome 8 is HCN4 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4). Affiliated tissues include heart.

Disease Ontology : 12 A Brugada syndrome that has material basis in heterozygous mutation in the HCN4 gene on chromosome 15q24.

UniProtKB/Swiss-Prot : 71 Brugada syndrome 8: 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 8

Symptoms & Phenotypes for Brugada Syndrome 8

Clinical features from OMIM:

613123

Human phenotypes related to Brugada Syndrome 8:

31
# Description HPO Frequency HPO Source Accession
1 ventricular tachycardia 31 HP:0004756
2 st segment elevation 31 HP:0012251

Drugs & Therapeutics for Brugada Syndrome 8

Search Clinical Trials , NIH Clinical Center for Brugada Syndrome 8

Genetic Tests for Brugada Syndrome 8

Genetic tests related to Brugada Syndrome 8:

# Genetic test Affiliating Genes
1 Brugada Syndrome 8 28 HCN4

Anatomical Context for Brugada Syndrome 8

MalaCards organs/tissues related to Brugada Syndrome 8:

38
Heart

Publications for Brugada Syndrome 8

Variations for Brugada Syndrome 8

ClinVar genetic disease variations for Brugada Syndrome 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HCN4 NM_005477.2(HCN4): c.1209_1209+1insGTGA insertion Pathogenic/Likely pathogenic rs786205418 GRCh37 Chromosome 15, 73635725: 73635726

Expression for Brugada Syndrome 8

Search GEO for disease gene expression data for Brugada Syndrome 8.

Pathways for Brugada Syndrome 8

GO Terms for Brugada Syndrome 8

Sources for Brugada Syndrome 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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