| H00430 | |
| H number | H00430 |
| Name | Fibrodysplasia ossificans progressiva |
| Description | 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. |
| Category | Musculoskeletal disease |
| Network | nt06507(H00430) TGFB signaling |
| Gene | ACVR1 (polymorphism) [HSA:90] [KO:K04675] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Palovarotene [DR:D09365] |
| Comment | - |
| Other DBs | ICD-11: FB31.1 ICD-10: M61.1 MeSH: D009221 OMIM: 135100 |
| Reference | PMID:18328989 AUTHORS Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby RE, Kitterman JA, Groppe J, Shore EM TITLE Fibrodysplasia ossificans progressiva. JOURNAL Best Pract Res Clin Rheumatol 22:191-205 (2008) DOI:10.1016/j.berh.2007.11.007 PMID:18590993 AUTHORS Shore EM, Kaplan FS TITLE Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP). JOURNAL Bone 43:427-33 (2008) DOI:10.1016/j.bone.2008.05.013 PMID:16642017 AUTHORS 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 TITLE A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. JOURNAL Nat Genet 38:525-7 (2006) DOI:10.1038/ng1783 |