CREATINE PHOSPHOKINASE, ELEVATED SERUM

General Information (adopted from Orphanet):

Synonyms, Signs: CPK, ELEVATED SERUM
HYPERCKEMIA, IDIOPATHIC
Number of Symptoms 5
OrphanetNr:
OMIM Id: 123320
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
2
(HPO:0003710) Exercise-induced muscle cramps 11 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(MedDRA:10004804) Biopsy muscle normal 3 / 7739
5
(OMIM) Normal exercise lactic acid production 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The existence of a 'normal' high serum creatine phosphokinase CPK was discussed by Emery and Spikesman (1970) in the context of 'subclinical Duchenne muscular dystrophy.' Patients may describe muscle cramps with exertion, but there is no evidence of ...
Molecular genetics OMIM Carbone et al. (2000) identified a de novo recurrent sporadic mutation in the CAV3 gene (601253.0007) in 2 unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. They concluded that their data indicate ...