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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 |
|---|---|---|---|
| 8398 | PLA2G6 | phospholipase A2 group VI | |
| 8803 | SUCLA2 | succinate-CoA ligase ADP-forming subunit beta | |
| 8813 | DPM1 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | |
| 8818 | DPM2 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | |
| 8867 | SYNJ1 | synaptojanin 1 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 22845 | DOLK | dolichol kinase |
Related Glycoprotein
