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Trait

Extremely elevated creatine kinase

An increased creatine kinase level more than 50X above the upper normal level.

HPO HP:0030235

Summary

Also called
Extremely elevated CPK, Extremely elevated creatine phosphokinase, Extremely elevated phospho-CK serum level, Extremely elevated serum CK level, Extremely high CPK level
Body system
Laboratory abnormality

3 genes linked to Extremely elevated creatine kinase

Changes in these genes cause rare conditions in which Extremely elevated creatine kinase is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
MICU1mitochondrial calcium uptake 1AlwaysIn 1 condition
NEFLneurofilament light chainOften (30–79%)In 1 condition
FLNCfilamin CRarely (1–4%)In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Elevated blood creatine phosphokinase

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

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