Details of Disease | DrugMAP

General Information of Disease (ID: DISWD0BP)

Disease Name	Myopathy, distal, 5
Synonyms	distal myopathy caused by mutation in ADSSL1; myopathy, distal, type 5; MPD5; ADSSL1-related distal myopathy; adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1 distal myopathy; myopathy, distal, 5; MPD5
Definition	Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.
Disease Hierarchy	DIS7F5R0: Distal myopathy DISWD0BP: Myopathy, distal, 5
Disease Identifiers	MONDO ID MONDO_0014877 UMLS CUI C5567521 OMIM ID 617030 MedGen ID 1798944 Orphanet ID 482601 SNOMED CT ID 1172694007

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
ADSS1	OTF6FE38	Strong	Autosomal recessive	[1]
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References

1	ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. Ann Neurol. 2016 Feb;79(2):231-43. doi: 10.1002/ana.24550. Epub 2015 Dec 15.