Details of Disease

General Information of Disease (ID: DISRFENG)

Disease Name Progressive scapulohumeroperoneal distal myopathy
Synonyms SHPM; myopathy, scapulohumeroperoneal
Disease Hierarchy
DISE0PV2: Alpha-actinopathy
DISV66YX: Progressive muscular dystrophy
DISRFENG: Progressive scapulohumeroperoneal distal myopathy
Disease Identifiers
MONDO ID
MONDO_0014800
UMLS CUI
C4225181
OMIM ID
616852
MedGen ID
905125
Orphanet ID
447977
SNOMED CT ID
1217226000

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
ACTA1 OTOVGLPG Supportive Autosomal dominant [1]
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References

1 Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. JAMA Neurol. 2015 Jun;72(6):689-98. doi: 10.1001/jamaneurol.2015.37.