Details of Disease

General Information of Disease (ID: DIS43MK2)

Disease Name Myopathy due to calsequestrin and SERCA1 protein overload
Synonyms VMCQA; myopathy, vacuolar, with CASQ1 aggregates
Definition Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.
Disease Hierarchy
DISD614M: Qualitative or quantitative defects of protein SERCA1
DISD715V: Hereditary neurological disease
DISU0K94: Hereditary skeletal muscle disorder
DIS43MK2: Myopathy due to calsequestrin and SERCA1 protein overload
Disease Identifiers
MONDO ID
MONDO_0014546
UMLS CUI
C4015624
OMIM ID
616231
MedGen ID
864061
Orphanet ID
88635

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CASQ1 OTAY8WOO Strong Autosomal dominant [1]
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References

1 Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice. FASEB J. 2009 Jun;23(6):1710-20. doi: 10.1096/fj.08-121335. Epub 2009 Feb 23.