KEGG   DISEASE: Metachondromatosis
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 in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H01018  Metachondromatosis
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06535  Efferocytosis
   H01018  Metachondromatosis
Pathway
hsa04014  Ras signaling pathway
hsa04650  Natural killer cell mediated cytotoxicity
hsa04920  Adipocytokine signaling pathway
hsa04360  Axon guidance
hsa04630  JAK-STAT signaling pathway
hsa04722  Neurotrophin signaling pathway
hsa04670  Leukocyte transendothelial migration
Network
nt06535 Efferocytosis
Gene
PTPN11 [HSA:5781] [KO:K07293]
Other DBs
ICD-11: LD24.2Y
ICD-10: Q78.8
MeSH: C562938
OMIM: 156250
Reference
PMID:21533187
  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
  Authors
Kennedy LA
  Title
Metachondromatosis.
  Journal
Radiology 148:117-8 (1983)
DOI:10.1148/radiology.148.1.6602353
Reference
PMID:20577567
  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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Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (8)   

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