KEGG   DISEASE: MetachondromatosisHelp
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
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H01018  Metachondromatosis
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q65-Q79  Congenital malformations and deformations of the musculoskeletal system
   Q78  Other osteochondrodysplasias
    H01018  Metachondromatosis
BRITE hierarchy
Pathway
hsa04630  Jak-STAT signaling pathway
hsa04650  Natural killer cell mediated cytotoxicity
hsa04670  Leukocyte transendothelial migration
hsa04722  Neurotrophin signaling pathway
hsa04920  Adipocytokine signaling pathway
Gene
PTPN11 [HSA:5781] [KO:K07293]
Other DBs
ICD-10: Q78.8
MeSH: C562938
OMIM: 156250
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)
DOI:10.1371/journal.pgen.1002050
Reference
PMID:6602353 (description)
  Authors
Kennedy LA
  Title
Metachondromatosis.
  Journal
Radiology 148:117-8 (1983)
DOI:10.1148/radiology.148.1.6602353
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)
DOI:10.1371/journal.pgen.1000991

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