Details of Disease | DrugMAP

General Information of Disease (ID: DISFDWS0)

Disease Name	Reducing body myopathy
Definition	Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibers.
Disease Hierarchy	DISLSK9G: Congenital myopathy DISFDWS0: Reducing body myopathy
Disease Identifiers	MONDO ID MONDO_0019948 UMLS CUI C0270970 MedGen ID 543081 Orphanet ID 97239 SNOMED CT ID 42779002

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
FHL1	TTI7ENL	Limited	Genetic Variation	[1]
FHL1	TTI7ENL	Supportive	X-linked	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LIM2	OTK7R6HC	Limited	Genetic Variation	[3]
FHL1	OTN535SU	Supportive	X-linked	[2]
PDLIM5	OTLQVV22	Strong	Biomarker	[3]
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References

1	FHL1-mutated reducing body myopathy.Neuropathology. 2020 Apr;40(2):185-190. doi: 10.1111/neup.12619. Epub 2019 Dec 5.
2	Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450.
3	Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1.Neuropediatrics. 2010 Feb;41(1):43-6. doi: 10.1055/s-0030-1254101. Epub 2010 Jun 22.