OPLL
MCID: OSS010
MIFTS: 42

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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MalaCards based summary: Ossification of the Posterior Longitudinal Ligament of the Spine, also known as ossification of the posterior longitudinal ligament of spine, is related to atherosclerosis and diabetes mellitus, and has symptoms including 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 ADP signalling through P2Y purinoceptor 12. 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:46 602475

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

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Ossification of the Posterior Longitudinal Ligament of the Spine, Aliases & Descriptions:

Name: Ossification of the Posterior Longitudinal Ligament of the Spine 42 22 46 62
Ossification of the Posterior Longitudinal Ligament of Spine 62
 
Opll 42


Classifications:

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


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

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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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Symptoms by clinical synopsis from OMIM:

602475

Clinical features from OMIM:

602475

HPO human phenotypes related to Ossification of the Posterior Longitudinal Ligament of the Spine:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 diabetes mellitus HP:0000819
3 abnormality of the vertebral column HP:0000925
4 hyperreflexia HP:0001347
5 spinal cord compression HP:0002176
6 myelopathy HP:0002196
7 increased bone mineral density HP:0011001

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

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

32
Spinal cord, Bone

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5PTH1R, COL11A2, PTH
2MP:00053788.4PTH1R, PTH, ENPP1, COL11A2
3MP:00053908.3ENPP1, COL11A2, PTH1R, PTH

Publications for Ossification of the Posterior Longitudinal Ligament of the Spine

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

(show all 39)
idTitleAuthorsYear
1
A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. (25064007)
2014
2
Genetics of ossification of the posterior longitudinal ligament of the spine: a mini review. (25006569)
2014
3
Association between single nucleotide polymorphism of IL15RA gene with susceptibility to ossification of the posterior longitudinal ligament of the spine. (25387549)
2014
4
Association of VKORC1-1639G>A polymorphism with susceptibility to ossification of the posterior longitudinal ligament of the spine: a Korean study. (23732872)
2013
5
A genome-wide sib-pair linkage analysis of ossification of the posterior longitudinal ligament of the spine. (23138351)
2013
6
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
7
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
8
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
9
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
10
A case of Castleman's disease associated with diffuse idiopathic skeletal hyperostosis and ossification of the posterior longitudinal ligament of the spine. (17929136)
2007
11
A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine. (16609882)
2006
12
High body mass index after age 20 and diabetes mellitus are independent risk factors for ossification of the posterior longitudinal ligament of the spine in Japanese subjects: a case-control study in multiple hospitals. (15105673)
2004
13
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
14
Significance of bone formation markers in patients with ossification of the posterior longitudinal ligament of the spine. (12590214)
2003
15
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
16
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
17
Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine. (11771660)
2002
18
Twy mouse and ossification of the posterior longitudinal ligament of the spine (OPLL)]. (15775405)
2002
19
Large-scale screening for candidate genes of ossification of the posterior longitudinal ligament of the spine. (11771659)
2002
20
Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine. (11341341)
2001
21
Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine. (11289713)
2001
22
Insulin secretory response is positively associated with the extent of ossification of the posterior longitudinal ligament of the spine. (11679606)
2001
23
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
24
Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). (10453738)
1999
25
Ossification of the posterior longitudinal ligament of the spine. A case-control risk factor study. (9926384)
1999
26
Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. (9662402)
1998
27
Involvement of insulin-like growth factor I in development of ossification of the posterior longitudinal ligament of the spine. (9437050)
1998
28
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
29
Genetic mapping of ossification of the posterior longitudinal ligament of the spine. (9585596)
1998
30
Ossification of the posterior longitudinal ligament of the spine: a case report. (7640970)
1995
31
Characterization of cultured cells derived from ossification of the posterior longitudinal ligament of the spine. (8392854)
1993
32
Increase of serum growth hormone-binding protein in patients with ossification of the posterior longitudinal ligament of the spine. (8235858)
1993
33
Diagnosis and treatment of ossification of the posterior longitudinal ligament of the spine: report of eight cases and literature review. (1546729)
1992
34
Genetic studies on ossification of the posterior longitudinal ligament of the spine. (2513651)
1989
35
Ossification of the posterior longitudinal ligament of the spine. (6423334)
1984
36
Cervical myelopathy caused by ossification of the posterior longitudinal ligament of the spine. A case report. (6816605)
1982
37
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
38
Ossification of the posterior longitudinal ligament of the spine. (117867)
1979
39
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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Expression patterns in normal tissues for genes affiliated with Ossification of the Posterior Longitudinal Ligament of the Spine

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

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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
2
Show member pathways
9.3PTH, PTH1R
39.3PTH, PTH1R
49.3PTH, PTH1R
59.3PTH, PTH1R
6
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.1COL11A2, COL6A1
7
Show member pathways
9.1COL11A2, COL6A1
89.1COL6A1, COL11A2
9
Show member pathways
9.1COL11A2, COL6A1
108.9PTH1R, PTH, ENPP1

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

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

idCompoundScoreTop Affiliating Genes
1phosphorus449.5PTH1R, PTH
21,25 dihydroxy vitamin d3449.4PTH, PTH1R
3ibmx44 61 2811.4PTH1R, PTH
4inositol 1,4,5 trisphosphate449.3PTH1R, PTH
5vitamin d449.3PTH, PTH1R
6calcitriol44 61 24 1112.2PTH, PTH1R
7cyclic amp44 2410.1PTH1R, PTH, ENPP1
8ribonucleic acid449.0PTH, PTH1R
9dexamethasone44 50 28 1112.0ENPP1, PTH, PTH1R

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

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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:0071899.3PTH1R, PTH
3G-protein coupled receptor signaling pathwayGO:0071869.3PTH, PTH1R
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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet