Details of Disease | DrugMAP

General Information of Disease (ID: DISIA80W)

Disease Name	Distal myopathy with vocal cord weakness
Synonyms	MPD2; distal myopathy 2; vocal cord and pharyngeal distal myopathy; MATR3-related distal myopathy; VCPDM
Definition	Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.
Disease Hierarchy	DISFMEP5: Autosomal dominant distal myopathy DISIA80W: Distal myopathy with vocal cord weakness
Disease Identifiers	MONDO ID MONDO_0018951 MESH ID C565262 UMLS CUI C1853723 MedGen ID 342950 Orphanet ID 600 SNOMED CT ID 702383005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MATR3	OTESJ5S7	Supportive	Autosomal dominant	[1]
MYOT	OTCEW5XW	moderate	Genetic Variation	[2]
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References

1	Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet. 2009 Apr;84(4):511-8. doi: 10.1016/j.ajhg.2009.03.006. Epub 2009 Apr 2.
2	Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).Ann Hum Genet. 2006 May;70(Pt 3):414-6. doi: 10.1111/j.1529-8817.2005.00252.x.