Details of Disease | DrugMAP

General Information of Disease (ID: DISFX8HF)

Disease Name	Multicentric osteolysis, nodulosis, and arthropathy
Synonyms	Torg-Winchester syndrome; Torg-Winchester syndrome, formerly; nodulosis-arthropathy-osteolysis syndrome; Winchester-Torg syndrome; NAO syndrome; osteolysis, hereditary multicentric; Torg syndrome; MONA; Al-Aqeel Sewairi syndrome; multicentric osteolysis, nodulosis, and arthropathy; MONA, MMP2-related; multicentric osteolysis, nodulosis and arthropathy, MMP2-related
Definition	A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.
Disease Hierarchy	DISG2NHG: Multicentric osteolysis-nodulosis-arthropathy spectrum DIS6SVEE: Syndromic disease DISFX8HF: Multicentric osteolysis, nodulosis, and arthropathy

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MMP2	DE0LW4X	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MMP2	OT5NIWA2	Strong	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.