Isolated asymptomatic elevation of…

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Isolated asymptomatic elevation of creatine phosphokinase

ORPHA:206599Biological anomaly

Also called Idiopathic asymptomatic hyperCKemia · Isolated asymptomatic hyperCKemia

What it is

A rare neurologic biological anomaly characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.

Key facts

Age of onset
All ages
Inheritance
Autosomal dominant
Classified as
Biological anomaly

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

ANO5Disease-causing germline mutation(s)
CAV3Disease-causing germline mutation(s)
DAG1Disease-causing germline mutation(s)

ICD-10 codes

R74.8filed under a broader ICD-10 category

Cross-references

MONDO 0016103OMIM 123320UMLS C4751434

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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