Details of Disease

General Information of Disease (ID: DISR27TF)

Disease Name Desmin-related myopathy with Mallory body-like inclusions
Synonyms early-onset desmin-related myopathy
Disease Hierarchy
DISHZE8T: Rigid spine muscular dystrophy 1
DISDUT8O: Hereditary inclusion-body myopathy
DISR27TF: Desmin-related myopathy with Mallory body-like inclusions
Disease Identifiers
MONDO ID
MONDO_0019398
UMLS CUI
C4275073
MedGen ID
898925
Orphanet ID
84132
SNOMED CT ID
715646003

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
SELENON OTSGKO5M Supportive Autosomal recessive [1]
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References

1 Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann Neurol. 2004 May;55(5):676-86. doi: 10.1002/ana.20077.