BRGDA3
MCID: BRG003
MIFTS: 25
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Brugada Syndrome 3 (BRGDA3)
Categories:
Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Brugada Syndrome 3:
Characteristics:HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Cardiovascular diseases Blood diseases Respiratory diseases
ICD10:
33
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OMIM
:
57
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 testes, 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 : 75 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. |
Diseases in the Brugada Syndrome family:
Diseases related to Brugada Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Brugada Syndrome 3:32 (show all 6)
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MalaCards organs/tissues related to Brugada Syndrome 3:41
Heart,
Testes
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Articles related to Brugada Syndrome 3:
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ClinVar genetic disease variations for Brugada Syndrome 3:6
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Search
GEO
for disease gene expression data for Brugada Syndrome 3.
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