Multicentric osteolysis, nodulosis, and arthropathy

Preferred Label : Multicentric osteolysis, nodulosis, and arthropathy;

Symbol : MONA;

CISMeF acronym : MONA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteolysis, hereditary multicentric; Torg-winchester syndrome; Torg syndrome; Nodulosis-arthropathy-osteolysis syndrome; Nao syndrome; Al-aqeel sewairi syndrome;

Description : 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.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the matrix metalloproteinase 2 gene (MMP2, 120360.0001);

Laboratory abnormalities : Elevated IL6; Elevated antinuclear antibody (ANA) (speckled pattern); Elevated IL1-beta;

Prefixed ID : #259600;

Details

Origin ID

259600;

UMLS CUI

C1850155;

Automatic exact mappings (from CISMeF team)
- Winchester syndrome [PASCAL descriptor]
CISMeF manual mappings
- Nodulosis-arthropathy-osteolysis syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive carpotarsal osteolysis [ORDO Disease]
- Multicentric Osteolysis, Nodulosis, and Arthropathy [NCIt concept]
- Multicentric osteolysis nodulosis arthropathy spectrum (disorder) [SNOMED CT concept]
- Multicentric osteolysis-nodulosis-arthropathy spectrum [ORDO Disease]
- Nodulosis-arthropathy-osteolysis syndrome [ICD-11 More detail]
- Osteolysis hereditary multicentric [MeSH concept]
- Torg-Winchester syndrome [ICD-11 More detail]
- osteolysis hereditary multicentric [MeSH Supplementary Concept]
Genes related to phenotype
- Matrix metalloproteinase 2 [OMIM gene]
HPO term(s)
- Ankle flexion contracture [HPO term]
- Ankylosis of feet small joints [HPO term]
- Antinuclear antibody positivity [HPO term]
- Arthralgia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad metatarsal [HPO term]
- Bulbous nose [HPO term]
- C1-C2 subluxation [HPO term]
- Camptodactyly of toe [HPO term]
- Carpal osteolysis [HPO term]
- Childhood onset [HPO term]
- Coarse facial features [HPO term]
- Corneal opacity [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Delayed eruption of teeth [HPO term]
- Diffusely thickened skin [HPO term]
- Distal tapering of metatarsals [HPO term]
- Finger swelling [HPO term]
- Frontal bossing [HPO term]
- Gait disturbance [HPO term]
- Gingival overgrowth [HPO term]
- Hip contracture [HPO term]
- Hirsutism [HPO term]
- Hypermelanotic macule [HPO term]
- Hyperpigmented erythematous lesions [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Infantile onset [HPO term]
- Interphalangeal joint contracture of finger [HPO term]
- Interphalangeal joint erosions [HPO term]
- Juvenile onset [HPO term]
- Kyphoscoliosis [HPO term]
- Metacarpal osteolysis [HPO term]
- Metaphyseal widening [HPO term]
- Metatarsal osteolysis [HPO term]
- Micrognathia [HPO term]
- Mitral valve prolapse [HPO term]
- Narrow nasal bridge [HPO term]
- Osteolysis involving tarsal bones [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Peripheral opacification of the cornea [HPO term]
- Pes cavus [HPO term]
- Pes planus [HPO term]
- Proptosis [HPO term]
- Protrusio acetabuli [HPO term]
- Sclerotic cranial sutures [HPO term]
- Short stature [HPO term]
- Split hand [HPO term]
- Subcutaneous nodule [HPO term]
- Thickened skin [HPO term]
- Thin metacarpal cortices [HPO term]
- Thin metatarsal cortices [HPO term]
- Vertebral compression fracture [HPO term]
- Wide cranial sutures [HPO term]
- Widened metacarpal shaft [HPO term]
- Widened metatarsal shaft [HPO term]
- Wrist flexion contracture [HPO term]
ORDO concept(s)
- Multicentric osteolysis-nodulosis-arthropathy spectrum [ORDO Disease]
- Nodulosis-arthropathy-osteolysis syndrome [ORDO Disease]
- Torg-Winchester syndrome [ORDO Disease]
See also inter- (CISMeF)
- Torg-Winchester syndrome [ORDO Disease]
- Winchester Syndrome [NCIt concept]
- Winchester syndrome [MeSH concept]
- Winchester syndrome (disorder) [SNOMED CT concept]
- winchester syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive carpotarsal osteolysis [ORDO Disease]
- Multicentric Osteolysis, Nodulosis, and Arthropathy [NCIt concept]
- Multicentric osteolysis nodulosis arthropathy spectrum (disorder) [SNOMED CT concept]
- Nodulosis-arthropathy-osteolysis syndrome [ORDO Disease]
- Osteolysis hereditary multicentric [MeSH concept]
- Torg-Winchester syndrome [ORDO Disease]
- osteolysis hereditary multicentric [MeSH Supplementary Concept]

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