KEGG   DISEASE: Ossification of the posterior longitudinal ligament of spineHelp
Entry
H00431                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Skeletal diseases
   H00431  Ossification of the posterior longitudinal ligament of spine
Human diseases in ICD-11 classification [BR:br08403]
 15 Diseases of the musculoskeletal system or connective tissue
  Conditions associated with the spine
   Degenerative condition of spine
    FA83  Ossification of spinal ligaments
     H00431  Ossification of the posterior longitudinal ligament of spine
BRITE hierarchy
Pathway
hsa04350  TGF-beta signaling pathway
Gene
COL11A2 (polymorphism) [HSA:1302] [KO:K19721]
NPPS [HSA:5167] [KO:K01513]
COL6A1 (polymorphism) [HSA:1291] [KO:K06238]
TGFB3 (polymorphism) [HSA:7043] [KO:K13377]
Env factor
machanical stress
nutrition
glucose intolerance
high body mass index
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
Reference
  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
Reference
  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
Reference
PMID:16609882 (gene, env_factor)
  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

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