MONA
MCID: MLT065
MIFTS: 44
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Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Multicentric Osteolysis, Nodulosis, and Arthropathy:
Characteristics:HPO:32
multicentric osteolysis, nodulosis, and arthropathy:
Onset and clinical course infantile onset juvenile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
34
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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 torg 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. 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
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:259600Human phenotypes related to Multicentric Osteolysis, Nodulosis, and Arthropathy:32 (show top 50) (show all 51)
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MalaCards organs/tissues related to Multicentric Osteolysis, Nodulosis, and Arthropathy:41
Bone,
Skin
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Articles related to Multicentric Osteolysis, Nodulosis, and Arthropathy:
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UniProtKB/Swiss-Prot genetic disease variations for Multicentric Osteolysis, Nodulosis, and Arthropathy:75
ClinVar genetic disease variations for Multicentric Osteolysis, Nodulosis, and Arthropathy:6 (show all 15)
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Search
GEO
for disease gene expression data for Multicentric Osteolysis, Nodulosis, and Arthropathy.
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Pathways related to Multicentric Osteolysis, Nodulosis, and Arthropathy according to GeneCards Suite gene sharing:
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Cellular components related to Multicentric Osteolysis, Nodulosis, and Arthropathy according to GeneCards Suite gene sharing:
Biological processes related to Multicentric Osteolysis, Nodulosis, and Arthropathy according to GeneCards Suite gene sharing:
Molecular functions related to Multicentric Osteolysis, Nodulosis, and Arthropathy according to GeneCards Suite gene sharing:
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