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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 |
|---|---|---|---|
| 23175 | LPIN1 | lipin 1 | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K | |
| 54344 | DPM3 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 55858 | TMEM165 | transmembrane protein 165 | |
| 56983 | POGLUT1 | protein O-glucosyltransferase 1 | |
| 57104 | PNPLA2 | patatin like phospholipase domain containing 2 | |
| 79147 | FKRP | fukutin related protein |
Related Glycoprotein
