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dilated cardiomyopathy 1R
Summary
- Synonym
-
- CMD1R
- Definition
- A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14.
- Super Class
- autosomal dominant disease dilated cardiomyopathy
External Links
- Disease Ontology
- DOID:0110456
- Mondo Disease Ontology
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P68032 | Actin, alpha cardiac muscle 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P68033 | Actin, alpha cardiac muscle 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001635 | Congestive heart failure |
| HP:0003198 | Myopathy |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0004308 | Ventricular arrhythmia |
| HP:0011463 | Childhood onset |
| HP:0003596 | Middle age onset |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003621 | Juvenile onset |
| HP:0011462 | Young adult onset |
| HP:0001723 | Restrictive cardiomyopathy |
