MCID: BRG010
MIFTS: 19

Brugada Syndrome 8 malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Brugada Syndrome 8

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Aliases & Descriptions for Brugada Syndrome 8:

Name: Brugada Syndrome 8 49 11 22 67 24 65
 
Brgda8 67

Classifications:



External Ids:

OMIM49 613123
MedGen34 C2751083
MeSH36 D053840
UMLS65 C2751083

Summaries for Brugada Syndrome 8

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OMIM:49 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 tachycardiaand 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.

UniProtKB/Swiss-Prot:67 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

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Symptoms for Brugada Syndrome 8

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Clinical features from OMIM:

613123

HPO human phenotypes related to Brugada Syndrome 8:

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

Drugs & Therapeutics for Brugada Syndrome 8

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy of Transcatheter Ablation Using Anatomic Approach of Ganglionated Plexi Located in the Right Atrium to Prevent Neuromediated Cardioinhibitory SyncopeRecruitingNCT01814228Phase 3

Search NIH Clinical Center for Brugada Syndrome 8

Genetic Tests for Brugada Syndrome 8

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Genetic tests related to Brugada Syndrome 8:

id Genetic test Affiliating Genes
1 Brugada Syndrome 822 HCN4

Anatomical Context for Brugada Syndrome 8

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MalaCards organs/tissues related to Brugada Syndrome 8:

33
Heart

Animal Models for Brugada Syndrome 8 or affiliated genes

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Publications for Brugada Syndrome 8

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Variations for Brugada Syndrome 8

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Clinvar genetic disease variations for Brugada Syndrome 8:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HCN4HCN4, 4-BP INS, GTGAinsertionPathogenic

Expression for genes affiliated with Brugada Syndrome 8

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

Pathways for genes affiliated with Brugada Syndrome 8

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GO Terms for genes affiliated with Brugada Syndrome 8

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Sources for Brugada Syndrome 8

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet