H00431 | |
H number | H00431 |
Name | Ossification of the posterior longitudinal ligament of spine |
Description | 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. |
Category | Musculoskeletal disease |
Network | - |
Gene | COL11A2 [HSA:1302] [KO:K19721] ENPP1 [HSA:5167] [KO:K01513] COL6A1 [HSA:1291] [KO:K06238] TGFB3 [HSA:7043] [KO:K13377] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: FA83 ICD-10: M48.8 MeSH: D017887 OMIM: 602475 |
Reference | PMID:9585596 AUTHORS Koga H, Sakou T, Taketomi E, Hayashi K, Numasawa T, Harata S, Yone K, Matsunaga S, Otterud B, Inoue I, Leppert M TITLE Genetic mapping of ossification of the posterior longitudinal ligament of the spine. JOURNAL Am J Hum Genet 62:1460-7 (1998) DOI:10.1086/301868 PMID:11289713 (COL11A2) AUTHORS Maeda S, Koga H, Matsunaga S, Numasawa T, Ikari K, Furushima K, Harata S, Takeda J, Sakou T, Komiya S, Inoue I TITLE Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine. JOURNAL J Hum Genet 46:1-4 (2001) DOI:10.1007/s100380170117 PMID:10453738 (ENPP1) AUTHORS 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 TITLE Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). JOURNAL Hum Genet 104:492-7 (1999) DOI:10.1007/s004390050993 PMID:12958705 (COL6A1) AUTHORS 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 TITLE Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine. JOURNAL Am J Hum Genet 73:812-22 (2003) DOI:10.1086/378593 PMID:16609882 (TGFB3) AUTHORS 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 TITLE A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine. JOURNAL Hum Genet 119:611-6 (2006) DOI:10.1007/s00439-006-0170-9 |