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MIRAGE
dilated cardiomyopathy 1X
Summary
- Synonym
-
- CMD1X
- dilated cardiomyopathy with mild or no proximal muscle weakness
- Definition
- A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31.
- Super Class
- autosomal recessive disease dilated cardiomyopathy
External Links
- Disease Ontology
- DOID:0110444
- Mondo Disease Ontology
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001635 | Congestive heart failure |
| HP:0003198 | Myopathy |
| HP:0003391 | Gowers sign |
| HP:0003701 | Proximal muscle weakness |
| HP:0011462 | Young adult onset |
| HP:0003596 | Middle age onset |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0012664 | Reduced left ventricular ejection fraction |
