BRGDA8
MCID: BRG010
MIFTS: 20

Brugada Syndrome 8 (BRGDA8) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Brugada Syndrome 8

Aliases & Descriptions for Brugada Syndrome 8:

Name: Brugada Syndrome 8 54 12 24 66 29 13 69
Brgda8 12 66

Classifications:



External Ids:

OMIM 54 613123
Disease Ontology 12 DOID:0110225
ICD10 33 I49.8
MedGen 40 C2751083
MeSH 42 D053840

Summaries for Brugada Syndrome 8

OMIM : 54 Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called... (613123) more...

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 : 66 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:

32
id Description HPO Frequency HPO Source Accession
1 ventricular tachycardia 32 HP:0004756
2 st segment elevation 32 HP:0012251

Drugs & Therapeutics for Brugada Syndrome 8

Interventional clinical trials:


id Name Status NCT ID Phase
1 Efficacy of Transcatheter Ablation Using Anatomic Approach of Ganglionated Plexi Located in the Right Atrium to Prevent Neuromediated Cardioinhibitory Syncope Recruiting NCT01814228 Phase 3

Search NIH Clinical Center for Brugada Syndrome 8

Genetic Tests for Brugada Syndrome 8

Genetic tests related to Brugada Syndrome 8:

id Genetic test Affiliating Genes
1 Brugada Syndrome 8 29 24 HCN4

Anatomical Context for Brugada Syndrome 8

MalaCards organs/tissues related to Brugada Syndrome 8:

39
Heart

Publications for Brugada Syndrome 8

Variations for Brugada Syndrome 8

ClinVar genetic disease variations for Brugada Syndrome 8:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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