General Information of Disease (ID: DISMCSNK)

Disease Name Zebra body myopathy
Disease Hierarchy
DISE0PV2: Alpha-actinopathy
DISMCSNK: Zebra body myopathy
Disease Identifiers
MONDO ID
MONDO_0019949
UMLS CUI
C0270969
MedGen ID
543080
Orphanet ID
97240
SNOMED CT ID
34513009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SELENON OTSGKO5M Limited Biomarker [1]
TPM2 OTA1L0P8 Limited Biomarker [1]
ACTA1 OTOVGLPG Supportive Unknown [2]
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References

1 Congenital myopathies.Curr Opin Neurol. 2007 Oct;20(5):583-9. doi: 10.1097/WCO.0b013e3282ef6e69.
2 Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1). Neuromuscul Disord. 2015 May;25(5):388-91. doi: 10.1016/j.nmd.2015.02.003. Epub 2015 Feb 14.