MCID: BRG010
MIFTS: 18

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 50 23 68 25 12 66
 
Brgda8 68

Classifications:



External Ids:

OMIM50 613123
MedGen35 C2751083
MeSH37 D053840

Summaries for Brugada Syndrome 8

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OMIM:50 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.

UniProtKB/Swiss-Prot:68 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 825 23 HCN4

Anatomical Context for Brugada Syndrome 8

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MalaCards organs/tissues related to Brugada Syndrome 8:

34
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
1HCN4NM_005477.2(HCN4): c.2522C> T (p.Ser841Leu)single nucleotide variantLikely pathogenic, Pathogenicrs200546024GRCh37Chr 15, 73615912: 73615912
2HCN4NM_005477.2(HCN4): c.1209_1209+1insGTGAinsertionLikely pathogenic, Pathogenicrs786205418GRCh38Chr 15, 73343384: 73343385

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet