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Trait

Abnormal levels of creatine kinase in blood

Clinical name: Abnormal circulating creatine kinase activity

Any deviation from the normal activity of creatine kinase in the blood circulation.

HPO HP:0040081

Summary

Also called
Abnormal circulating CK concentration, Abnormal circulating CPK concentration, Abnormal circulation phospho-CK concentration, Abnormal creatine kinase level
Body system
Laboratory abnormality

30 genes linked to Abnormal levels of creatine kinase in blood

Changes in these genes cause rare conditions in which Abnormal levels of creatine kinase in blood 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
MEGF10multiple EGF like domains 10AlwaysIn 1 condition
NOTCH3notch receptor 3AlwaysIn 1 condition
B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2Very often (80–99%)In 1 condition
B4GAT1beta-1,4-glucuronyltransferase 1Very often (80–99%)In 1 condition
COL4A1collagen type IV alpha 1 chainVery often (80–99%)In 1 condition
CRPPACDP-L-ribitol pyrophosphorylase AVery often (80–99%)In 1 condition
DAG1dystroglycan 1Very often (80–99%)In 1 condition
DYSFdysferlinVery often (80–99%)In 1 condition
FKRPfukutin related proteinVery often (80–99%)In 1 condition
FKTNfukutinVery often (80–99%)In 1 condition
LARGE1LARGE xylosyl- and glucuronyltransferase 1Very often (80–99%)In 1 condition
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)Very often (80–99%)In 1 condition
POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)Very often (80–99%)In 1 condition
POMKprotein O-mannose kinaseVery often (80–99%)In 1 condition
POMT1protein O-mannosyltransferase 1Very often (80–99%)In 1 condition
POMT2protein O-mannosyltransferase 2Very often (80–99%)In 1 condition
RXYLT1ribitol xylosyltransferase 1Very often (80–99%)In 1 condition
SIL1SIL1 nucleotide exchange factorVery often (80–99%)In 1 condition
ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferaseOften (30–79%)In 1 condition
CAV3caveolin 3Often (30–79%)In 1 condition
CRYABcrystallin alpha BOften (30–79%)In 1 condition
KLHL9kelch like family member 9Often (30–79%)In 1 condition
PLA2G6phospholipase A2 group VIOften (30–79%)In 1 condition
PNPLA2patatin like domain 2, triacylglycerol lipaseOften (30–79%)In 1 condition
SCO2synthesis of cytochrome C oxidase 2Often (30–79%)In 2 conditions
TRAPPC11trafficking protein particle complex subunit 11Often (30–79%)In 1 condition
RYR1ryanodine receptor 1Sometimes (5–29%)In 1 condition
GYG1glycogenin 1Not recordedIn 1 condition
KYkyphoscoliosis peptidaseNot recordedIn 1 condition
SYNE1spectrin repeat containing nuclear envelope protein 1Not recordedIn 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.

Narrower traits

Broader traits

Abnormal circulating enzyme concentration

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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