Details of Disease | DrugMAP

General Information of Disease (ID: DISKVJSC)

Disease Name	Myopathy, myofibrillar, 9, with early respiratory failure
Synonyms	myopathy, distal, with early respiratory failure, autosomal dominant; Edstrom myopathy; hereditary inclusion body myopathy with early respiratory failure; hereditary proximal myopathy with early respiratory failure; HMERF; HIBM-ERF; myopathy, proximal, with early respiratory muscle involvement; Edstrm myopathy; HMERF-ERF; myofibrillar myopathy with early respiratory failure; ADMERF; distal myopathy with early respiratory muscle involvement
Disease Hierarchy	DISFMEP5: Autosomal dominant distal myopathy DISV66YX: Progressive muscular dystrophy DISDHBZ4: Autosomal dominant titinopathy DISDUT8O: Hereditary inclusion-body myopathy DISKVJSC: Myopathy, myofibrillar, 9, with early respiratory failure
Disease Identifiers	MONDO ID MONDO_0011362 MESH ID C566343 UMLS CUI C1863599 OMIM ID 603689 MedGen ID 350930 Orphanet ID 178464 SNOMED CT ID 702373006

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
TTN	OT0LZ058	Strong	Autosomal dominant	[1]
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References

1	Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain. 2012 Jun;135(Pt 6):1695-713. doi: 10.1093/brain/aws102. Epub 2012 May 9.