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
Displaying entries 31 - 40 of 49 in total
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024