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Multicentric osteolysis, nodulosis, and arthropathy

MedGen UID:
1002739
•Concept ID:
CN322832
•
Disease or Syndrome
Synonyms: AL-AQEEL SEWAIRI SYNDROME; NAO SYNDROME; NOA syndrome; Nodulosis arthropathy osteolysis syndrome; Osteolysis, hereditary multicentric; Torg syndrome; Torg-Winchester syndrome
 
Gene (location): MMP2 (16q12.2)
 
Monarch Initiative: MONDO:0009809
OMIM®: 259600

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. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.
Bhavani GS, Shah H, Shukla A, Gupta N, Gowrishankar K, Rao AP, Kabra M, Agarwal M, Ranganath P, Ekbote AV, Phadke SR, Kamath A, Dalal A, Girisha KM
Am J Med Genet A 2016 Feb;170A(2):410-417. Epub 2015 Nov 24 doi: 10.1002/ajmg.a.37447. PMID: 26601801

Diagnosis

Japanese siblings with multicentric osteolysis nodulosis and arthropathy.
Okada S, Suzuki E, Suzuki Y, Moriwake T, Hasegawa K, Omuro A, Hasegawa S
Pediatr Int 2024 Jan-Dec;66(1):e15743. doi: 10.1111/ped.15743. PMID: 38409917
Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling.
de Vos IJHM, Wong ASW, Welting TJM, Coull BJ, van Steensel MAM
Am J Med Genet A 2019 Aug;179(8):1652-1664. Epub 2019 Jun 19 doi: 10.1002/ajmg.a.61264. PMID: 31218820
A novel fibrotic disorder associated with increased dermal fibroblast proliferation and downregulation of genes of the microfibrillar network.
Szauter KM, Ordas A, Laxer RM, Pope E, Wherrett D, Alman B, Mink M, Boyd CD, Csiszar K, Hinek A
Br J Dermatol 2010 Nov;163(5):1102-15. doi: 10.1111/j.1365-2133.2010.09911.x. PMID: 20560960

Prognosis

Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.
Ishaq T, Loid P, Ishaq HA, Seo GH, Mäkitie O, Naz S
BMC Musculoskelet Disord 2023 Sep 14;24(1):735. doi: 10.1186/s12891-023-06856-2. PMID: 37710205Free PMC Article
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.
Bhavani GS, Shah H, Shukla A, Gupta N, Gowrishankar K, Rao AP, Kabra M, Agarwal M, Ranganath P, Ekbote AV, Phadke SR, Kamath A, Dalal A, Girisha KM
Am J Med Genet A 2016 Feb;170A(2):410-417. Epub 2015 Nov 24 doi: 10.1002/ajmg.a.37447. PMID: 26601801
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.
Azzollini J, Rovina D, Gervasini C, Parenti I, Fratoni A, Cubellis MV, Cerri A, Pietrogrande L, Larizza L
J Hum Genet 2014 Nov;59(11):631-7. Epub 2014 Oct 2 doi: 10.1038/jhg.2014.84. PMID: 25273674
Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene.
Al-Aqeel AI
Saudi Med J 2005 Jan;26(1):24-30. PMID: 15756348

Clinical prediction guides

Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.
Ishaq T, Loid P, Ishaq HA, Seo GH, Mäkitie O, Naz S
BMC Musculoskelet Disord 2023 Sep 14;24(1):735. doi: 10.1186/s12891-023-06856-2. PMID: 37710205Free PMC Article
Different roles of matrix metalloproteinase 2 in osteolysis of skeletal dysplasia and bone metastasis (Review).
Li X, Jin L, Tan Y
Mol Med Rep 2021 Jan;23(1) Epub 2020 Nov 25 doi: 10.3892/mmr.2020.11708. PMID: 33236155Free PMC Article
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.
Azzollini J, Rovina D, Gervasini C, Parenti I, Fratoni A, Cubellis MV, Cerri A, Pietrogrande L, Larizza L
J Hum Genet 2014 Nov;59(11):631-7. Epub 2014 Oct 2 doi: 10.1038/jhg.2014.84. PMID: 25273674
Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene.
Al-Aqeel AI
Saudi Med J 2005 Jan;26(1):24-30. PMID: 15756348

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (Bookshelf cited)
      Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries
    • PubMed (GeneReviews)
      GeneReviews in PubMed

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