| H01018 | |
| H number | H01018 |
| 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 |
| Network | - |
| Gene | PTPN11 [HSA:5781] [KO:K07293] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 PMID:6602353 AUTHORS Kennedy LA TITLE Metachondromatosis. JOURNAL Radiology 148:117-8 (1983) DOI:10.1148/radiology.148.1.6602353 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 |