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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 |
|---|---|---|---|
| 6392 | SDHD | succinate dehydrogenase complex subunit D | |
| 6517 | SLC2A4 | solute carrier family 2 member 4 | |
| 7941 | PLA2G7 | phospholipase A2 group VII | |
| 9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
| 10135 | NAMPT | nicotinamide phosphoribosyltransferase | |
| 22845 | DOLK | dolichol kinase | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 79147 | FKRP | fukutin related protein | |
| 81031 | SLC2A10 | solute carrier family 2 member 10 | |
| 148738 | HJV | hemojuvelin BMP co-receptor |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13093 | Platelet-activating factor acetylhydrolase | |
| Q14118 | Dystroglycan 1 | |
| Q16836 | Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial | |
| Q29983 | MHC class I polypeptide-related sequence A | |
| Q6ZVN8 | Hemojuvelin | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y259 | Choline/ethanolamine kinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003621 | Juvenile onset |
