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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 |
|---|---|---|---|
| 34 | ACADM | acyl-CoA dehydrogenase medium chain | |
| 37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 1120 | CHKB | choline kinase beta | |
| 1374 | CPT1A | carnitine palmitoyltransferase 1A | |
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1798 | DPAGT1 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | |
| 2027 | ENO3 | enolase 3 | |
| 2218 | FKTN | fukutin |
Related Glycoprotein
