Details of Disease

General Information of Disease (ID: DISTFPL4)

Disease Name Myopathy, distal, 7, adult-onset, X-linked
Synonyms myopathy, distal, 7, adult-onset, X-linked; MPD7
Disease Hierarchy
DIS7F5R0: Distal myopathy
DISTFPL4: Myopathy, distal, 7, adult-onset, X-linked
Disease Identifiers
MONDO ID
MONDO_0024771
UMLS CUI
C5676880
OMIM ID
301075
MedGen ID
1808663

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
SMPX OTLSHGBF Strong X-linked [1]
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References

1 Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. Acta Neuropathol. 2021 Aug;142(2):375-393. doi: 10.1007/s00401-021-02319-x. Epub 2021 May 11.