Details of Disease

General Information of Disease (ID: DISG2NHG)

• Disease Name: Multicentric osteolysis-nodulosis-arthropathy spectrum
• Synonyms: MONA spectrum
• Definition: A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.
• Disease Hierarchy:
  DISOTEY1: Primary osteolysis
  DISG2NHG: Multicentric osteolysis-nodulosis-arthropathy spectrum
• Disease Identifiers:
  MONDO ID: MONDO_0018298
  MESH ID: C536051
  UMLS CUI: C1850155
  OMIM ID: 259600
  MedGen ID: 342428
  Orphanet ID: 371428
  SNOMED CT ID: 716868003

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	Supportive	Autosomal recessive	[1]
MMP2	TTLM12X	Strong	Genetic Variation	[2]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MMP2	DE0LW4X	Supportive	Autosomal recessive	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MMP14	OT9C197Z	Supportive	Autosomal recessive	[1]
MMP2	OT5NIWA2	Supportive	Autosomal recessive	[1]

References

• [1] Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. Am J Hum Genet. 2012 Sep 7;91(3):572-6. doi: 10.1016/j.ajhg.2012.07.022. Epub 2012 Aug 23.
• [2] A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy.Mol Genet Genomic Med. 2019 Aug;7(8):e802. doi: 10.1002/mgg3.802. Epub 2019 Jul 3.