Details of Disease

General Information of Disease (ID: DIS5VW2P)

Disease Name Myopathy, proximal, and ophthalmoplegia
Synonyms
MYOPATHY, proximal, and ophthalmoplegia; inclusion body myopathy 3, autosomal dominant; inclusion body myopathy 3, autosomal dominant, formerly; MYPOP; myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles; proximal myopathy and ophthalmoplegia; myopathy, proximal, and ophthalmoplegia
Disease Hierarchy
DISLSK9G: Congenital myopathy
DISZXXG5: Inclusion body myositis
DIS5VW2P: Myopathy, proximal, and ophthalmoplegia
Disease Identifiers
MONDO ID
MONDO_0011577
MESH ID
C565311
UMLS CUI
C1854106
OMIM ID
605637
MedGen ID
381340

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MYH2 TTBIL13 Strong Genetic Variation [1]
MYH2 TTBIL13 Definitive Semidominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYH2 OT7KE42L Definitive Semidominant [2]
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References

1 Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.Eur J Hum Genet. 2014 Jun;22(6):801-8. doi: 10.1038/ejhg.2013.250. Epub 2013 Nov 6.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.