KEGG   DISEASE: Torg syndromeHelp
Entry
H00472                      Disease                                

Name
Torg syndrome;
Torg-Winchester syndrome;
Multicentric osteolysis, nodulosis, and arthropathy
Description
Torg syndrome, also known as Multicentric osteolysis, nodulosis, and arthropathy (MONA) is a multicentric osteolysis syndrome characterized by progressive bone loss in hands and feet. MMP2 mutations are reported in patients with Torg-Winchester syndrome.
Category
Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Skeletal diseases
   H00472  Torg syndrome
Human diseases in ICD-11 classification [BR:br08403]
 15 Diseases of the musculoskeletal system or connective tissue
  Osteopathies or chondropathies
   FB86  Disorders associated with bone growth
    H00472  Torg syndrome
BRITE hierarchy
Gene
MMP2 [HSA:4313] [KO:K01398]
Other DBs
ICD-11: FB86.2
ICD-10: Q85.9
MeSH: C536051
OMIM: 259600
Reference
  Authors
Al Aqeel A, Al Sewairi W, Edress B, Gorlin RJ, Desnick RJ, Martignetti JA
  Title
Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family.
  Journal
Reference
  Authors
Zankl A, Pachman L, Poznanski A, Bonafe L, Wang F, Shusterman Y, Fishman DA, Superti-Furga A
  Title
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.
  Journal
J Bone Miner Res 22:329-33 (2007)
DOI:10.1359/jbmr.061013
Reference
  Authors
Jeong SY, Kim BY, Kim HJ, Yang JA, Kim OH
  Title
A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.
  Journal
J Hum Genet 55:764-6 (2010)
DOI:10.1038/jhg.2010.102

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