Rare diseases · Sign or symptom
Abnormal circulating creatine kinase activity
Abnormal levels of creatine kinase in blood
HP:0040081
What it means
Any deviation from the normal activity of creatine kinase in the blood circulation.
Rare diseases that can present with this12
Very common80–99%
3Common30–79%
8- Alpha-B crystallin-related late-onset myopathy
- Distal myopathy, Tateyama type
- KLHL9-related early-onset distal myopathy
- Multiple pterygium-malignant hyperthermia syndrome
- Neutral lipid storage disease with ichthyosis
- Neutral lipid storage disease with myopathy
- PLA2G6-related neurodegeneration, adult-onset
- TRAPPC11-related limb-girdle muscular dystrophy R18
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 4 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Abnormal circulating CK concentration · Abnormal circulating CPK concentration · Abnormal circulation phospho-CK concentration · Abnormal creatine kinase level
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.