Details of Disease | DrugMAP

General Information of Disease (ID: DISENXUL)

Disease Name	Myofibrillar myopathy 3
Synonyms	muscular dystrophy, proximal, type 1A; muscular dystrophy, limb-girdle, type 1A; autosomal dominant spheroid body myopathy; myopathy, spheroid body; myopathy, myofibrillar, myotilin-related; MFM3; limb-girdle muscular dystrophy type 1A; myopathy, myofibrillar, 3; LGMD1; autosomal dominant distal myopathy caused by mutation in MYOT; spheroid body myopathy; distal myotilinopathy; MYOT autosomal dominant limb-girdle muscular dystrophy; proximal muscular dystrophy type 1A; autosomal dominant limb-girdle muscular dystrophy type 1A; limb-girdle muscular dystrophy due to myotilin deficiency; LGMD1A; myotilinopathy; MYOT autosomal dominant distal myopathy; autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT; myofibrillar myopathy type 3; myopathy, myofibrillar, type 3; muscular dystrophy limb-girdle type 1A
Definition	A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISMMHPT: Muscular dystrophy, limb-girdle, autosomal dominant DISF24LW: Myofibrillar myopathy DISFMEP5: Autosomal dominant distal myopathy DISENXUL: Myofibrillar myopathy 3
Disease Identifiers	MONDO ID MONDO_0012215 MESH ID C563775 UMLS CUI C3714934 OMIM ID 609200 MedGen ID 811509

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KLK7	TTE6GTB	Strong	Biomarker	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
INA	OT1D33T4	moderate	Biomarker	[2]
MYOT	OTCEW5XW	Strong	Autosomal dominant	[3]
------------------------------------------------------------------------------------

References

1	Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies.Neuropathol Appl Neurobiol. 2008 Feb;34(1):76-87. doi: 10.1111/j.1365-2990.2007.00864.x. Epub 2007 Oct 11.
2	Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy.Am J Pathol. 2007 Oct;171(4):1312-23. doi: 10.2353/ajpath.2007.070520. Epub 2007 Sep 6.
3	Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet. 2000 Sep 1;9(14):2141-7. doi: 10.1093/hmg/9.14.2141.