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isolated elevated serum creatine phosphokinase levels
Summary
- Synonym
-
- elevated serum CPK
- idiopathic hyperCKemia
- isolated hyperCKemia
- Definition
- An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3.
- Super Class
- autosomal dominant disease inherited metabolic disorder
External Links
- Disease Ontology
- DOID:0111338
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2548 | GAA | alpha glucosidase | |
| 2673 | GFPT1 | glutamine--fructose-6-phosphate transaminase 1 | |
| 2683 | B4GALT1 | beta-1,4-galactosyltransferase 1 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3939 | LDHA | lactate dehydrogenase A | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 5224 | PGAM2 | phosphoglycerate mutase 2 | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5837 | PYGM | glycogen phosphorylase, muscle associated | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A |
Related Glycoprotein
