isolated asymptomatic elevation of creatine phosphokinase
Findings
No curated finding names isolated asymptomatic elevation of creatine phosphokinase yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.
Definition from the Mondo Disease Ontology (MONDO:0016103), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating creatine kinase activityHPOHP:0003236
- Obligate (100% of cases)
Reported absent (2)
- Elevated creatine kinase after exerciseHPOHP:0008331
- MyopathyHPOHP:0003198
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DAG1HGNC:2666
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: isolated asymptomatic elevation of creatine phosphokinase
- Also called
- hyperCKmiaidiopathic asymptomatic hyperCKemiaisolated asymptomatic hyperCKemiaisolated hyperCKemia