KEGG DISEASE: Ossification of the posterior longitudinal ligament of spine

DISEASE: Ossification of the posterior longitudinal ligament of spine

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 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

Gene

COL11A2 [HSA:1302] [KO:K19721]
ENPP1 [HSA:5167] [KO:K01513]
COL6A1 [HSA:1291] [KO:K06238]
TGFB3 [HSA:7043] [KO:K13377]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

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

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

Reference

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

Reference

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

Reference

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

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Drug (3)   
   KEGG DRUG (3)   
Gene (8)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (4)   
Literature (5)   
   PubMed (5)   
All databases (17)   

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