Details of Disease

General Information of Disease (ID: DISS4AF5)

• Disease Name: Winchester syndrome
• Synonyms: nodulosis arthropathy osteolysis syndrome; NOA syndrome; Al-Qeel Sewairi syndrome; multicentric osteolysis, nodulosis and arthropathy; multicentric osteolysis, nodulosis and arthropathy, MMP14-related; MONA, MMP14-related; Winchester syndrome; WNCHRS; MMP14-related multicentric osteolysis, nodulosis, and arthropathy
• Disease Hierarchy:
  DISG2NHG: Multicentric osteolysis-nodulosis-arthropathy spectrum
  DISS4AF5: Winchester syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010201
  MESH ID: C536709
  UMLS CUI: C0432289
  OMIM ID: 277950
  MedGen ID: 98152
  SNOMED CT ID: 254151006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MMP14	TTJ4QE7	Limited	Altered Expression	[1]
MMP14	TTJ4QE7	Moderate	Autosomal recessive	[2]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MMP2	DE0LW4X	Definitive	Autosomal recessive	[3]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MMP14	OT9C197Z	Moderate	Autosomal recessive	[2]
MMP2	OT5NIWA2	Definitive	Autosomal recessive	[3]

References

• [1] Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.Hum Mol Genet. 2018 Aug 15;27(16):2775-2788. doi: 10.1093/hmg/ddy168.
• [2] 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.
• [3] Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Genet. 2001 Jul;28(3):261-5. doi: 10.1038/90100.