MCID: BRG010
MIFTS: 20

Brugada Syndrome 8 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Brugada Syndrome 8

About this section

Aliases & Descriptions for Brugada Syndrome 8:

Name: Brugada Syndrome 8 51 11 24 69 26 12 67
 
Brgda8 11 69

Classifications:



External Ids:

OMIM51 613123
Disease Ontology11 DOID:0110225
ICD1029 I49.8
MedGen36 C2751083
MeSH38 D053840

Summaries for Brugada Syndrome 8

About this section
OMIM:51 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:69 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

About this section

Symptoms for Brugada Syndrome 8

About this section


Clinical features from OMIM:

613123

Human phenotypes related to Brugada Syndrome 8:

 63
id Description HPO Frequency HPO Source Accession
1 ventricular tachycardia63 HP:0004756
2 st segment elevation63 HP:0012251

Drugs & Therapeutics for Brugada Syndrome 8

About this section

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

About this section

Genetic tests related to Brugada Syndrome 8:

id Genetic test Affiliating Genes
1 Brugada Syndrome 826 24 HCN4

Anatomical Context for Brugada Syndrome 8

About this section

MalaCards organs/tissues related to Brugada Syndrome 8:

35
Heart

Animal Models for Brugada Syndrome 8 or affiliated genes

About this section

Publications for Brugada Syndrome 8

About this section

Variations for Brugada Syndrome 8

About this section

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)SNVPathogenicrs200546024GRCh37Chr 15, 73615912: 73615912
2HCN4NM_005477.2(HCN4): c.1209_1209+1insGTGAinsertionLikely pathogenic, Pathogenicrs786205418GRCh38Chr 15, 73343384: 73343385

Expression for genes affiliated with Brugada Syndrome 8

About this section
Search GEO for disease gene expression data for Brugada Syndrome 8.

Pathways for genes affiliated with Brugada Syndrome 8

About this section

GO Terms for genes affiliated with Brugada Syndrome 8

About this section

Sources for Brugada Syndrome 8

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet