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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 |
|---|---|---|---|
| 84197 | POMK | protein O-mannose kinase | |
| 84342 | COG8 | component of oligomeric golgi complex 8 | |
| 84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| 84992 | PIGY | phosphatidylinositol glycan anchor biosynthesis class Y | |
| 85365 | ALG2 | ALG2 alpha-1,3/1,6-mannosyltransferase | |
| 91949 | COG7 | component of oligomeric golgi complex 7 | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| 199857 | ALG14 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | |
| 729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
Related Glycoprotein
