BRGDA8
MCID: BRG010
MIFTS: 20

Brugada Syndrome 8 (BRGDA8) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Brugada Syndrome 8

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Aliases & Descriptions for Brugada Syndrome 8:

Name: Brugada Syndrome 8 52 11 24 70 27 12 68
 
Brgda8 11 70

Classifications:



External Ids:

OMIM52 613123
Disease Ontology11 DOID:0110225
ICD1030 I49.8
MedGen37 C2751083
MeSH39 D053840

Summaries for Brugada Syndrome 8

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OMIM:52 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:11 A Brugada syndrome that has material basis in heterozygous mutation in the HCN4 gene on chromosome 15q24.

UniProtKB/Swiss-Prot:70 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 & Phenotypes for Brugada Syndrome 8

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Clinical features from OMIM:

613123

Human phenotypes related to Brugada Syndrome 8:

 64
id Description HPO Frequency HPO Source Accession
1 ventricular tachycardia64 HP:0004756
2 st segment elevation64 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 827 24 HCN4

Anatomical Context for Brugada Syndrome 8

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MalaCards organs/tissues related to Brugada Syndrome 8:

36
Heart

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
1HCN4NM_ 005477.2(HCN4): c.1209_ 1209+1insGTGAinsertionPathogenic/ Likely pathogenicrs786205418GRCh37Chr 15, 73635725: 73635726

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet