KEGG   DISEASE: 後縦靭帯骨化症
エントリ  
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 15 筋骨格系・結合組織の疾患
  脊椎に関連する病態
   脊椎の変性病態
    FA83  脊椎靱帯の骨化
     H00431  後縦靭帯骨化症
指定難病 [jp08407.html]
 H00431
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]
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]
リンク   
ICD-11: FA83
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
文献    
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
文献    
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
文献    
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
文献    
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
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