Details of Disease

General Information of Disease (ID: DIS5AULW)

Disease Name Scapuloperoneal myopathy
Synonyms scapuloperoneal syndrome, myopathic type; myopathy, scapuloperoneal
Definition A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.
Disease Hierarchy
DISYTPR5: Emery-Dreifuss muscular dystrophy
DIS5AULW: Scapuloperoneal myopathy
Disease Identifiers
MONDO ID
MONDO_0000727
MESH ID
C536624
UMLS CUI
C2931268
MedGen ID
419759
HPO ID
HP:0009054

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FHL1 TTI7ENL Strong Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACTA1 OTOVGLPG Strong Genetic Variation [2]
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References

1 Fhl1 W122S causes loss of protein function and late-onset mild myopathy.Hum Mol Genet. 2015 Feb 1;24(3):714-26. doi: 10.1093/hmg/ddu490. Epub 2014 Sep 30.
2 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.