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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001644 | Dilated cardiomyopathy |
| HP:0003457 | EMG abnormality |
| HP:0000969 | Edema |
| HP:0012378 | Fatigue |
| HP:0002875 | Exertional dyspnea |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0011675 | Arrhythmia |
| HP:0001727 | Thromboembolic stroke |
| HP:0012764 | Orthopnea |
| HP:0001635 | Congestive heart failure |
