OBO ID: DOID:0111338
Term Name: isolated elevated serum creatine phosphokinase levels Search Ontology:
Synonyms:
  • 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. (2)
References:
Ontology: Human Disease   ( DOID:0111338 )
OTHER isolated elevated serum creatine phosphokinase levels PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CAV3 Creatine phosphokinase, elevated serum 123320
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None