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isolated asymptomatic elevation of creatine phosphokinase

MONDO:0016103

Also known as: hyperCKmia, idiopathic asymptomatic hyperCKemia, isolated asymptomatic hyperCKemia, isolated hyperCKemia

MONDO:
MONDO:0016103
Orphanet:
206599
Rare disease37 associated genes

Description

Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.

Associated genes

+27 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.

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