| H00441 | |
| H番号 | H00441 |
| 名称 | 進行性骨性異形成症 |
| 概要 | Progressive osseous heteroplasia (POH) is a genetic disorder where heterozygous inactivating mutations in the GNAS gene have been identified. Patients with POH characteristically develop extensive bone formation within the superficial dermal layer of the skin. |
| カテゴリ | 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | GNAS [HSA:2778] [KO:K04632] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: FB31.0 ICD-10: M61.5 MeSH: C562735 OMIM: 166350 |
| 文献 | PMID:8126048 著者 Kaplan FS, Craver R, MacEwen GD, Gannon FH, Finkel G, Hahn G, Tabas J, Gardner RJ, Zasloff MA タイトル Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases. 雑誌 J Bone Joint Surg Am 76:425-36 (1994) PMID:11784876 著者 Shore EM, Ahn J, Jan de Beur S, Li M, Xu M, Gardner RJ, Zasloff MA, Whyte MP, Levine MA, Kaplan FS タイトル Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. 雑誌 N Engl J Med 346:99-106 (2002) DOI:10.1056/NEJMoa011262 |