Myopathy, vacuolar, with casq1 aggregates

Preferred Label : Myopathy, vacuolar, with casq1 aggregates;

Symbol : VMCQA;

CISMeF acronym : VMCQA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calsequestrin 1 gene (CASQ1, 114250.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #616231;

Details

Origin ID

616231;

UMLS CUI

C4015624;

Currated CISMeF NLP mapping
- Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder) [SNOMED CT concept]
- Vacuolar myopathy with sarcoplasmic reticulum protein aggregates [ORDO Disease]
Genes related to phenotype
- Calsequestrin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Easy fatigability [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Muscle spasm [HPO term]
- Muscle weakness [HPO term]
- Myalgia [HPO term]
- Proximal muscle weakness [HPO term]
ORDO concept(s)
- Vacuolar myopathy with sarcoplasmic reticulum protein aggregates [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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