KEGG   DISEASE: Torg syndrome
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 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
Pathway
hsa04915  Estrogen signaling pathway
hsa04912  GnRH signaling pathway
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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