Trait
Highly elevated creatine kinase
An increased CPK level between 4X and 50X above the upper normal level.
Summary
- Also called
- Highly elevated CPK, Highly elevated creatine phosphokinase, Highly elevated serum CK, Highly elevated serum CPK, Highly elevated serum phosph-CK
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Highly elevated creatine kinase, and the rest of your genome, with one test.
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Get my Genome Test14 genes linked to Highly elevated creatine kinase
Changes in these genes cause rare conditions in which Highly 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.
| Gene | How often it is seen | Conditions |
|---|---|---|
| CD40LGCD40 ligand | Always | In 1 condition |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Always | In 1 condition |
| FDX2ferredoxin 2 | Always | In 1 condition |
| LAMA2laminin subunit alpha 2 | Very often (80–99%) | In 1 condition |
| LPIN1lipin 1 | Very often (80–99%) | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Very often (80–99%) | In 1 condition |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Very often (80–99%) | In 1 condition |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Very often (80–99%) | In 1 condition |
| PYGMglycogen phosphorylase, muscle associated | Very often (80–99%) | In 1 condition |
| SNUPNsnurportin 1 | Very often (80–99%) | In 1 condition |
| ANO5anoctamin 5 | Often (30–79%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Often (30–79%) | In 1 condition |
| LMNAlamin A/C | Often (30–79%) | In 1 condition |
| POPDC3popeye domain cAMP effector 3 | Not recorded | 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
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 2026.10.16-c6eea6bf.
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