multicentric osteolysis, nodulosis, and arthropathy
Findings
No curated finding names multicentric osteolysis, nodulosis, and arthropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009809), read 2026-09-29. CC BY 4.0.
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArthralgiaHPOHP:0002829
- 1 of 1 reported patient
- Broad metacarpalsHPOHP:0001230
- 1 of 1 reported patient
- Bulbous noseHPOHP:0000414
- 5 of 5 reported patients
- Coarse facial featuresHPOHP:0000280
- 5 of 5 reported patients
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- HirsutismHPOHP:0001007
- 3 of 3 reported patients
- Interphalangeal joint contracture of fingerHPOHP:0001220
Show the remaining 12
- Thin bony cortexHPOHP:0002753
- 1 of 1 reported patient
- Thin metacarpal corticesHPOHP:0006086
- 1 of 1 reported patient
- Thin metatarsal corticesHPOHP:0008078
- 1 of 1 reported patient
- Widened metacarpal shaftHPOHP:0006012
- 1 of 1 reported patient
- Gingival overgrowthHPOHP:0000212
- 4 of 5 reported patients
- C1-C2 subluxationHPOHP:0003320
- 2 of 5 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MMP2HGNC:7166
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
9 names
Resolves to: multicentric osteolysis, nodulosis, and arthropathy
- Also called
- Al-Aqeel Sewairi syndromeMONAMONA, MMP2-relatedmulticentric osteolysis, nodulosis and arthropathy, MMP2-relatedNAO syndromenodulosis-arthropathy-osteolysis syndromeosteolysis, hereditary multicentricTorg syndromeWinchester-Torg syndrome