OPLL
MCID: OSS010
MIFTS: 41

Ossification of the Posterior Longitudinal Ligament of the Spine (OPLL) malady

Rare diseases, Muscle diseases categories
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Summaries for Ossification of the Posterior Longitudinal Ligament of the Spine

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47OMIM, 33MalaCards
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MalaCards: Ossification of the Posterior Longitudinal Ligament of the Spine, also known as ossification of the posterior longitudinal ligament of spine, is related to diffuse idiopathic skeletal hyperostosis and atherosclerosis. An important gene associated with Ossification of the Posterior Longitudinal Ligament of the Spine is ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1), and among its related pathways are G alpha (s) signalling events and Transcription Role of VDR in regulation of genes involved in osteoporosis. The compounds phosphorus and 1,25 dihydroxy vitamin d3 have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and bone, and related mouse phenotypes are craniofacial and growth/size/body.

Description from OMIM:47 602475

Aliases & Classifications for Ossification of the Posterior Longitudinal Ligament of the Spine

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43NIH Rare Diseases, 22GTR, 47OMIM, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Muscle diseases


Aliases & Descriptions:

ossification of the posterior longitudinal ligament of the spine 43 22 47
ossification of the posterior longitudinal ligament of spine 62
opll 43


Related Diseases for Ossification of the Posterior Longitudinal Ligament of the Spine

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Ossification of the Posterior Longitudinal Ligament of the Spine:



Diseases related to ossification of the posterior longitudinal ligament of the spine

Symptoms for Ossification of the Posterior Longitudinal Ligament of the Spine

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47OMIM
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Symptoms by clinical synopsis from OMIM:

602475

Clinical features from OMIM:

602475

Drugs & Therapeutics for Ossification of the Posterior Longitudinal Ligament of the Spine

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Ossification of the Posterior Longitudinal Ligament of the Spine

Search NIH Clinical Center for Ossification of the Posterior Longitudinal Ligament of the Spine

Genetic Tests for Ossification of the Posterior Longitudinal Ligament of the Spine

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22GTR
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Genetic tests related to Ossification of the Posterior Longitudinal Ligament of the Spine:

id Genetic test Affiliating Genes
1 Ossification of the Posterior Longitudinal Ligament of the Spine22

Anatomical Context for Ossification of the Posterior Longitudinal Ligament of the Spine

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33MalaCards
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MalaCards organs/tissues related to Ossification of the Posterior Longitudinal Ligament of the Spine:

33
Spinal cord, Bone

Animal Models for Ossification of the Posterior Longitudinal Ligament of the Spine or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Ossification of the Posterior Longitudinal Ligament of the Spine:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5PTH, PTH1R, COL11A2
2MP:00053788.4ENPP1, COL11A2, PTH1R, PTH
3MP:00053908.3ENPP1, COL11A2, PTH1R, PTH

Publications for Ossification of the Posterior Longitudinal Ligament of the Spine

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52PubMed
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Articles related to Ossification of the Posterior Longitudinal Ligament of the Spine:

(show all 34)
idTitleAuthorsYear
1
Association of VKORC1-1639G>A polymorphism with susceptibility to ossification of the posterior longitudinal ligament of the spine: a Korean study. (23732872)
2013
2
A genome-wide sib-pair linkage analysis of ossification of the posterior longitudinal ligament of the spine. (23138351)
2013
3
A single nucleotide polymorphism in the human bone morphogenetic protein-2 gene (109T > G) affects the Smad signaling pathway and the predisposition to ossification of the posterior longitudinal ligament of the spine. (23506588)
2013
4
Association of toll-like receptor 5 gene polymorphism with susceptibility to ossification of the posterior longitudinal ligament of the spine in korean population. (21494356)
2011
5
FokI variant of vitamin D receptor gene and factors related to atherosclerosis associated with ossification of the posterior longitudinal ligament of the spine: a multi-hospital case-control study. (18628697)
2008
6
Association of bone morphogenetic protein-2 gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the spine and its severity in Chinese patients. (18389292)
2008
7
A case of Castleman's disease associated with diffuse idiopathic skeletal hyperostosis and ossification of the posterior longitudinal ligament of the spine. (17929136)
2007
8
A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine. (16609882)
2006
9
Sleeping habit and other life styles in the prime of life and risk for ossification of the posterior longitudinal ligament of the spine (OPLL): a case-control study in Japan. (15478672)
2004
10
Significance of bone formation markers in patients with ossification of the posterior longitudinal ligament of the spine. (12590214)
2003
11
Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine. (12958705)
2003
12
Association of bone metabolism regulatory factor gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the spine and its severity. (12195069)
2002
13
Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine. (11771660)
2002
14
Twy mouse and ossification of the posterior longitudinal ligament of the spine (OPLL)]. (15775405)
2002
15
Large-scale screening for candidate genes of ossification of the posterior longitudinal ligament of the spine. (11771659)
2002
16
Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine. (11341341)
2001
17
Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine. (11289713)
2001
18
Insulin secretory response is positively associated with the extent of ossification of the posterior longitudinal ligament of the spine. (11679606)
2001
19
Did ossification of the posterior longitudinal ligament of the spine evolve in the modern period? A paleopathologic study of ancient human skeletons in Japan. (11093448)
2000
20
Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). (10453738)
1999
21
Ossification of the posterior longitudinal ligament of the spine. A case-control risk factor study. (9926384)
1999
22
Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. (9662402)
1998
23
Mapping of a gene responsible for twy (tip-toe walking Yoshimura), a mouse model of ossification of the posterior longitudinal ligament of the spine (OPLL). (9457678)
1998
24
Genetic mapping of ossification of the posterior longitudinal ligament of the spine. (9585596)
1998
25
Ossification of the posterior longitudinal ligament of the spine: a case report. (7640970)
1995
26
Characterization of cultured cells derived from ossification of the posterior longitudinal ligament of the spine. (8392854)
1993
27
Increase of serum growth hormone-binding protein in patients with ossification of the posterior longitudinal ligament of the spine. (8235858)
1993
28
Diagnosis and treatment of ossification of the posterior longitudinal ligament of the spine: report of eight cases and literature review. (1546729)
1992
29
Genetic studies on ossification of the posterior longitudinal ligament of the spine. (2513651)
1989
30
Ossification of the posterior longitudinal ligament of the spine. (6423334)
1984
31
Cervical myelopathy caused by ossification of the posterior longitudinal ligament of the spine. A case report. (6816605)
1982
32
The ossification of the posterior longitudinal ligament of the spine (OPLL). The Investigation Committee on OPLL of the Japanese Ministry of Public Health and Welfare. (6792304)
1981
33
Ossification of the posterior longitudinal ligament of the spine. (117867)
1979
34
Ossification of the posterior longitudinal ligament of the spine in Chinese. (102731)
1978

Variations for Ossification of the Posterior Longitudinal Ligament of the Spine

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Expression for genes affiliated with Ossification of the Posterior Longitudinal Ligament of the Spine

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ossification of the Posterior Longitudinal Ligament of the Spine

Search GEO for disease gene expression data for Ossification of the Posterior Longitudinal Ligament of the Spine.

Pathways for genes affiliated with Ossification of the Posterior Longitudinal Ligament of the Spine

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50PathCards, 55Reactome, 60Thomson Reuters, 38NCBI BioSystems Database, 53QIAGEN, 51PharmGKB, 30KEGG
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Pathways related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PTH1R, PTH
29.3PTH1R, PTH
39.3PTH1R, PTH
49.3PTH, PTH1R
5
Show member pathways
9.3PTH, PTH1R
6
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
9.1COL6A1, COL11A2
7
Show member pathways
9.1COL6A1, COL11A2
89.1COL11A2, COL6A1
9
Show member pathways
9.1COL6A1, COL11A2
108.9ENPP1, PTH1R, PTH

Compounds for genes affiliated with Ossification of the Posterior Longitudinal Ligament of the Spine

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45Novoseek, 61Tocris Bioscience, 29IUPHAR, 24HMDB, 11DrugBank, 51PharmGKB
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Compounds related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphorus459.5PTH1R, PTH
21,25 dihydroxy vitamin d3459.4PTH1R, PTH
3ibmx45 61 2911.4PTH, PTH1R
4inositol 1,4,5 trisphosphate459.3PTH1R, PTH
5vitamin d459.3PTH1R, PTH
6calcitriol45 61 24 1112.2PTH1R, PTH
7cyclic amp45 2410.1ENPP1, PTH1R, PTH
8ribonucleic acid459.0PTH1R, PTH
9dexamethasone45 51 29 1112.0PTH, PTH1R, ENPP1

GO Terms for genes affiliated with Ossification of the Posterior Longitudinal Ligament of the Spine

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16Gene Ontology
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Cellular components related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163239.5ENPP1, PTH1R
2endoplasmic reticulum lumenGO:0057889.0COL6A1, COL11A2
3lysosomal membraneGO:0057658.9ENPP1, COL6A1
4extracellular regionGO:0055768.5COL6A1, COL11A2, PTH

Biological processes related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1bone resorptionGO:0454539.4PTH1R, PTH
2adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.3PTH, PTH1R
3G-protein coupled receptor signaling pathwayGO:0071869.3PTH1R, PTH
4collagen catabolic processGO:0305749.0COL6A1, COL11A2
5skeletal system developmentGO:0015018.9COL11A2, PTH1R, PTH
6extracellular matrix disassemblyGO:0226178.8COL6A1, COL11A2

Products for genes affiliated with Ossification of the Posterior Longitudinal Ligament of the Spine

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Sources for Ossification of the Posterior Longitudinal Ligament of the Spine

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet