Multicentric Osteolysis, Nodulosis, and Arthropathy

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OMIM 57 259600 Orphanet 59 ORPHA85196 UMLS via Orphanet 74 C1850155 ICD10 via Orphanet 34 M89.5 MedGen 42 C1850155

MeSH 44 D010014 KEGG 37 H00472 SNOMED-CT via HPO 69 258211005 441787004 441798003 54711002 13649004 194021007 22006008 32958008 249322008 18265008 275259005 5639000 312894000 78441005 64859006 399939002 17417006 69943009 299034005 202275008 22325002 295091000119100 95325000 205091006 203534009 53226007 90145001 405773007 57676002 42942008 84138006 59606006 202283002 165850001 237836003 55713007 more UMLS 73 C1850155

OMIM : ⁵⁷ Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (277950), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features. (259600)

MalaCards based summary : Multicentric Osteolysis, Nodulosis, and Arthropathy, also known as nodulosis-arthropathy-osteolysis syndrome, is related to winchester syndrome and multicentric carpotarsal osteolysis syndrome. An important gene associated with Multicentric Osteolysis, Nodulosis, and Arthropathy is MMP2 (Matrix Metallopeptidase 2), and among its related pathways/superpathways are Degradation of the extracellular matrix and Development Endothelin-1/EDNRA signaling. The drugs Pamidronate and Zoledronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are hypertelorism and frontal bossing

Genetics Home Reference : ²⁵ Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called Torg syndrome, although it is unknown whether Torg syndrome is actually part of MONA or a separate disorder caused by a mutation in a different gene.

UniProtKB/Swiss-Prot : ⁷⁵ Multicentric osteolysis, nodulosis, and arthropathy: An autosomal recessive syndrome characterized by severe multicentric osteolysis with predominant involvement of the hands and feet. Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy.

GeneReviews: NBK373578

Clinical features from OMIM:

259600

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