Details of Disease | DrugMAP

General Information of Disease (ID: DIS5BABS)

Disease Name	Myofibrillar myopathy 2
Synonyms	myopathy, myofibrillar, alpha-B crystallin-related; alpha-B crystallin-related late-onset distal myopathy; myopathy, myofibrillar, with or without cataract and/or cardiomyopathy; MFM2; myopathy, myofibrillar, 2; myopathy, desmin-related, associated with mutation in the Cryab Gene; CRYAB autosomal dominant distal myopathy; autosomal dominant distal myopathy caused by mutation in CRYAB; late-onset distal crystallinopathy; myofibrillar myopathy type 2; myopathy, myofibrillar, type 2; alpha-B crystallinopathy
Definition	Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.
Disease Hierarchy	DISFMEP5: Autosomal dominant distal myopathy DIS5BABS: Myofibrillar myopathy 2
Disease Identifiers	MONDO ID MONDO_0012130 MESH ID C563848 UMLS CUI C1837317 OMIM ID 608810 MedGen ID 324735 Orphanet ID 399058

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
CRYAB	TT7RUHB	Definitive	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRYAB	OTY4JGYU	Strong	Autosomal dominant	[2]
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References

1	A novel CRYAB mutation resulting in multisystemic disease.Neuromuscul Disord. 2012 Jan;22(1):66-72. doi: 10.1016/j.nmd.2011.07.004. Epub 2011 Sep 14.
2	Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function. Proc Natl Acad Sci U S A. 1999 May 25;96(11):6137-42. doi: 10.1073/pnas.96.11.6137.