| H01018 | |
| H番号 | H01018 |
| 名称 | Metachondromatosis |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | PTPN11 [HSA:5781] [KO:K07293] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.2Y ICD-10: Q78.8 MeSH: C562938 OMIM: 156250 |
| 文献 | PMID:21533187 著者 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 タイトル Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 雑誌 PLoS Genet 7:e1002050 (2011) DOI:10.1371/journal.pgen.1002050 PMID:6602353 著者 Kennedy LA タイトル Metachondromatosis. 雑誌 Radiology 148:117-8 (1983) DOI:10.1148/radiology.148.1.6602353 PMID:20577567 著者 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 タイトル Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. 雑誌 PLoS Genet 6:e1000991 (2010) DOI:10.1371/journal.pgen.1000991 |