| H00434 | |
| H番号 | H00434 |
| 名称 | Camurati-Engelmann病; 進行性骨幹異形成症 |
| 概要 | Camurati-Engelmann disease (CED) is an autosomal dominant disorder characterized by hyperostosis of the diaphysis of long bones and the skull. The onset of CED is during early childhood with muscle weakness and limb pain. The mutations in TGF-beta 1 LAP domain modulate TGF-beta 1 activity and lead to increased proliferation of osteoblasts in CED. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06507(H00434) TGFB signaling |
| 病因遺伝子 | TGFB1 [HSA:7040] [KO:K13375] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.1Y ICD-10: Q78.3 MeSH: D003966 OMIM: 131300 |
| 文献 | PMID:10973241 著者 Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K タイトル Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. 雑誌 Nat Genet 26:19-20 (2000) DOI:10.1038/79128 PMID:15103729 著者 Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura K タイトル TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations. 雑誌 Am J Med Genet A 127A:104-7 (2004) DOI:10.1002/ajmg.a.20671 PMID:11278244 著者 Saito T, Kinoshita A, Yoshiura Ki, Makita Y, Wakui K, Honke K, Niikawa N, Taniguchi N タイトル Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1. 雑誌 J Biol Chem 276:11469-72 (2001) DOI:10.1074/jbc.C000859200 PMID:20301335 著者 Wallace SE, Wilcox WR タイトル Camurati-Engelmann Disease 雑誌 GeneReviews (1993) |