Details of Disease | DrugMAP

General Information of Disease (ID: DISY3XHI)

Disease Name	Myofibrillar myopathy 7
Synonyms	MFM7; myopathy, myofibrillar, 7; alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy; KY myofibrillar myopathy (disease); myopathy, myofibrillar, type 7; myofibrillar myopathy (disease) caused by mutation in KY
Definition	Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene.
Disease Hierarchy	DISF24LW: Myofibrillar myopathy DISY3XHI: Myofibrillar myopathy 7
Disease Identifiers	MONDO ID MONDO_0014922 UMLS CUI C4310711 OMIM ID 617114 MedGen ID 934678

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
KY	OTK1L8VX	Strong	Autosomal recessive	[1]
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References

1	The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein. Hum Mol Genet. 2001 Jan 1;10(1):9-16. doi: 10.1093/hmg/10.1.9.