HyperCKmia

MedGen UID:: 1651776
•Concept ID:: C4724975
•: Disease or Syndrome

Synonym:

Isolated HyperCKemia

Definition

A condition characterized by elevated concentrations of creatine kinase in the blood. It is one of a group of conditions caused by mutation(s) in the CAV3 gene, encoding caveolin-3. Isolated hyperCKmia has no other associated manifestations. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHyperCKmia

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Non-Neoplastic Disorder
      - Non-Neoplastic Disorder by Special Category
        Rare Non-Neoplastic Disorder
        HyperCKmia

Recent clinical studies

Etiology

Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.

Wu C, Xiang H, Chen R, Zheng Y, Zhu M, Chen S, Yu Y, Peng Y, Yu Y, Deng J, Zhou M, Hong D
Ann Clin Transl Neurol 2022 May;9(5):633-643. Epub 2022 Mar 17 doi: 10.1002/acn3.51543. PMID: 35297556 Free PMC Article

See all (1)

Diagnosis

Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.

Sturge-Weber syndrome coexisting with episodes of rhabdomyolysis.

Zhu M, Li X, Zhou M, Wan H, Wu Y, Hong D
BMC Neurol 2013 Nov 11;13:169. doi: 10.1186/1471-2377-13-169. PMID: 24207015 Free PMC Article

See all (2)

MedGen

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HyperCKmia

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

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