KEGG   DISEASE: H01018Help
Entry
H01018                      Disease                                

Name
Metachondromatosis
Description
Metachondromatosis (MC) is a rare, autosomal dominant condition affecting the growth of bones. It is characterized by exostoses (osteochondromas) and enchondromas. Exostotic lesions occur frequently in the digits and tend to grow toward the joint. MC exostoses may regress or even resolve over time.
Category
Skeletal dysplasia
BRITE hierarchy
Pathway
Jak-STAT signaling pathway
Natural killer cell mediated cytotoxicity
Leukocyte transendothelial migration
Neurotrophin signaling pathway
Adipocytokine signaling pathway
Gene
PTPN11 [HSA:5781] [KO:K07293]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:21533187 (description, gene)
  Authors
Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafe L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovee JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML
  Title
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
  Journal
PLoS Genet 7:e1002050 (2011)
Reference
PMID:6602353 (description)
  Authors
Kennedy LA
  Title
Metachondromatosis.
  Journal
Radiology 148:117-8 (1983)
Reference
PMID:20577567 (description)
  Authors
Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB
  Title
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
  Journal
PLoS Genet 6:e1000991 (2010)

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