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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 4706 | NDUFAB1 | NADH:ubiquinone oxidoreductase subunit AB1 | |
| 5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline | |
| 5236 | PGM1 | phosphoglucomutase 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5973 | RENBP | renin binding protein | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003621 | Juvenile onset |
