Details of Disease | DrugMAP

General Information of Disease (ID: DISN1URH)

Disease Name	Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Synonyms	Hereditary inclusion body myopathy type 3; Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles; Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia; Inclusion body myopathy autosomal dominant; hereditary inclusion body myopathy type 3; HIBM3; inclusion body myopathy type 3; IBM3
Definition	Hereditary inclusion body myopathy type 3 is characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.
Disease Hierarchy	DIS5VW2P: Myopathy, proximal, and ophthalmoplegia DISDUT8O: Hereditary inclusion-body myopathy DISN1URH: Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Disease Identifiers	MONDO ID MONDO_0019195 UMLS CUI C4510610 MedGen ID 1382737 Orphanet ID 79091 SNOMED CT ID 724349009

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
MYH2	TTBIL13	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYH2	OT7KE42L	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene. Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14614-9. doi: 10.1073/pnas.250289597.