Brugada Syndrome 3 (BRGDA3)

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Disease Ontology 12 DOID:0110220 OMIM 58 611875 MeSH 45 D053840 ICD10 34 I49.8

MedGen 43 C2678478 SNOMED-CT via HPO 70 263681008 271594007 272030005 309585006 44103008 49436004 77867006 95281009 more UMLS 74 C2678478

OMIM : ⁵⁸ Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005). For a discussion of the genetic heterogeneity of Brugada syndrome, see BRGDA1 (601144). (611875)

MalaCards based summary : Brugada Syndrome 3, also known as brgda3, is related to brugada syndrome and syncope. An important gene associated with Brugada Syndrome 3 is CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C). Affiliated tissues include heart, and related phenotypes are sudden cardiac death and syncope

Disease Ontology : ¹² A Brugada syndrome that has material basis in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13.

UniProtKB/Swiss-Prot : ⁷⁶ Brugada syndrome 3: A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is 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.

Clinical features from OMIM:

611875

Search Clinical Trials , NIH Clinical Center for Brugada Syndrome 3

Search GEO for disease gene expression data for Brugada Syndrome 3.