| H00431 | |
| H番号 | H00431 |
| 名称 | 後縦靭帯骨化症 |
| 概要 | Ossification of the posterior longitudinal ligament of spine (OPLL) is an osteogenetic disorder of the spine found among Japanese and other East Asian populations. Ectopic bone formation in the posterior longitudinal ligaments causes myelopathy in patients with OPLL. Genetic linkage studies revealed genes encoding collagens, nucleotide pyrophosphatase, and TGF-beta3 in association with susceptibility to the disease. |
| カテゴリ | 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | COL11A2 [HSA:1302] [KO:K19721] ENPP1 [HSA:5167] [KO:K01513] COL6A1 [HSA:1291] [KO:K06238] TGFB3 [HSA:7043] [KO:K13377] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ダントロレンナトリウム水和物 [DR:D02274] バクロフェン [DR:D00241] アフロクアロン [DR:D01638] |
| コメント | - |
| リンク | ICD-11: FA83 ICD-10: M48.8 MeSH: D017887 OMIM: 602475 |
| 文献 | PMID:9585596 著者 Koga H, Sakou T, Taketomi E, Hayashi K, Numasawa T, Harata S, Yone K, Matsunaga S, Otterud B, Inoue I, Leppert M タイトル Genetic mapping of ossification of the posterior longitudinal ligament of the spine. 雑誌 Am J Hum Genet 62:1460-7 (1998) DOI:10.1086/301868 PMID:11289713 (COL11A2) 著者 Maeda S, Koga H, Matsunaga S, Numasawa T, Ikari K, Furushima K, Harata S, Takeda J, Sakou T, Komiya S, Inoue I タイトル Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine. 雑誌 J Hum Genet 46:1-4 (2001) DOI:10.1007/s100380170117 PMID:10453738 (ENPP1) 著者 Nakamura I, Ikegawa S, Okawa A, Okuda S, Koshizuka Y, Kawaguchi H, Nakamura K, Koyama T, Goto S, Toguchida J, Matsushita M, Ochi T, Takaoka K, Nakamura Y タイトル Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). 雑誌 Hum Genet 104:492-7 (1999) DOI:10.1007/s004390050993 PMID:12958705 (COL6A1) 著者 Tanaka T, Ikari K, Furushima K, Okada A, Tanaka H, Furukawa K, Yoshida K, Ikeda T, Ikegawa S, Hunt SC, Takeda J, Toh S, Harata S, Nakajima T, Inoue I タイトル Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine. 雑誌 Am J Hum Genet 73:812-22 (2003) DOI:10.1086/378593 PMID:16609882 (TGFB3) 著者 Horikoshi T, Maeda K, Kawaguchi Y, Chiba K, Mori K, Koshizuka Y, Hirabayashi S, Sugimori K, Matsumoto M, Kawaguchi H, Takahashi M, Inoue H, Kimura T, Matsusue Y, Inoue I, Baba H, Nakamura K, Ikegawa S タイトル A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine. 雑誌 Hum Genet 119:611-6 (2006) DOI:10.1007/s00439-006-0170-9 |