| H00430 | |
| H番号 | H00430 |
| 名称 | 進行性骨化性線維異形成症; 進行性骨化線維増殖症 |
| 概要 | Fibrodysplasia ossificans progressiva (FOP) is a very rare disorder that leads to progressive ossification of muscle tissue and connective tissue. This process becomes noticeable in early childhood. Affected individuals harbor missense mutations in the ACVR1A gene that brings about constitutive activation of BMP type I receptor. FOP can be inherited in an autosomal dominant pattern. |
| カテゴリ | 筋骨格疾患 |
| ネットワーク | nt06507(H00430) TGFB signaling |
| 病因遺伝子 | ACVR1 (polymorphism) [HSA:90] [KO:K04675] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: FB31.1 ICD-10: M61.1 MeSH: D009221 OMIM: 135100 |
| 文献 | PMID:18328989 著者 Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby RE, Kitterman JA, Groppe J, Shore EM タイトル Fibrodysplasia ossificans progressiva. 雑誌 Best Pract Res Clin Rheumatol 22:191-205 (2008) DOI:10.1016/j.berh.2007.11.007 PMID:18590993 著者 Shore EM, Kaplan FS タイトル Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP). 雑誌 Bone 43:427-33 (2008) DOI:10.1016/j.bone.2008.05.013 PMID:16642017 著者 Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, Connor JM, Delai P, Glaser DL, LeMerrer M, Morhart R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS タイトル A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. 雑誌 Nat Genet 38:525-7 (2006) DOI:10.1038/ng1783 |