Details of Disease

General Information of Disease (ID: DIS0H8C4)

Disease Name Distal myopathy with posterior leg and anterior hand involvement
Synonyms Williams distal myopathy; MPD4; myopathy, distal, 4; myopathy, distal, type 4; distal ABD-filaminopathy
Definition
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.
Disease Hierarchy
DISFMEP5: Autosomal dominant distal myopathy
DIS0H8C4: Distal myopathy with posterior leg and anterior hand involvement
Disease Identifiers
MONDO ID
MONDO_0013550
UMLS CUI
C3279722
OMIM ID
614065
MedGen ID
481352
Orphanet ID
63273

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
FLNC OT3F8J6Y Moderate Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.