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Brugada syndrome 3
Summary
- Synonym
-
- BRGDA3
- Definition
- 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.
- Super Class
- Brugada syndrome
External Links
- Disease Ontology
- DOID:0110220
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 34950 | Ca-alpha1D | Ca[2+]-channel protein alpha[[1]] subunit D |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 100462911 | cacna1c.S | calcium channel, voltage-dependent, L type, alpha 1C subunit S homeolog | Xenopus laevis (African clawed frog) | |
| 100488055 | cacna1c | calcium channel, voltage-dependent, L type, alpha 1C subunit | Xenopus tropicalis (tropical clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011704 | Sick sinus syndrome |
| HP:0001695 | Cardiac arrest |
| HP:0012251 | ST segment elevation |
| HP:0001649 | Tachycardia |
| HP:0011712 | Right bundle branch block |
| HP:0004751 | Paroxysmal ventricular tachycardia |
| HP:0001279 | Syncope |
| HP:0011705 | First degree atrioventricular block |
| HP:0004308 | Ventricular arrhythmia |
| HP:0011715 | Trifascicular block |
