Details of Disease

General Information of Disease (ID: DISQIXBQ)

Disease Name Distal myopathy, Tateyama type
Synonyms myopathy, distal, Tateyama type; MPDT
Definition
Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.
Disease Hierarchy
DISFMEP5: Autosomal dominant distal myopathy
DISQIXBQ: Distal myopathy, Tateyama type
Disease Identifiers
MONDO ID
MONDO_0013686
UMLS CUI
C3280443
OMIM ID
614321
MedGen ID
482073
Orphanet ID
488650
SNOMED CT ID
711265009

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
CAV3 OTWSFDB4 Supportive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Neurology. 2002 Jan 22;58(2):323-5. doi: 10.1212/wnl.58.2.323.