MCID: OSS010
MIFTS: 38

Ossification of the Posterior Longitudinal Ligament of the Spine malady

Rare diseases, Muscle diseases categories

Summaries for Ossification of the Posterior Longitudinal Ligament of the Spine

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OMIM:45 Ossification of the posterior longitudinal ligament of the spine (OPLL) can cause spinal-cord compression (Ono et al.,... (602475) more...

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 insulin-like growth factor i and atherosclerosis, and has symptoms including autosomal recessive inheritance, diabetes mellitus and abnormality of the vertebral column. 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.

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 41 45 22
Ossification of the Posterior Longitudinal Ligament of Spine 60
 
Opll 41


Classifications:

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


External Ids:

OMIM45 602475

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:

31
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:

35
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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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
Genomic study of ossification of the posterior longitudinal ligament of the spine. (25504229)
2014
5
Association of VKORC1-1639G>A polymorphism with susceptibility to ossification of the posterior longitudinal ligament of the spine: a Korean study. (23732872)
2013
6
A genome-wide sib-pair linkage analysis of ossification of the posterior longitudinal ligament of the spine. (23138351)
2013
7
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
8
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
9
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
10
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
11
A case of Castleman's disease associated with diffuse idiopathic skeletal hyperostosis and ossification of the posterior longitudinal ligament of the spine. (17929136)
2007
12
A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine. (16609882)
2006
13
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
14
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
15
Significance of bone formation markers in patients with ossification of the posterior longitudinal ligament of the spine. (12590214)
2003
16
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
17
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
18
Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine. (11771660)
2002
19
Twy mouse and ossification of the posterior longitudinal ligament of the spine (OPLL)]. (15775405)
2002
20
Large-scale screening for candidate genes of ossification of the posterior longitudinal ligament of the spine. (11771659)
2002
21
Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine. (11341341)
2001
22
Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine. (11289713)
2001
23
Insulin secretory response is positively associated with the extent of ossification of the posterior longitudinal ligament of the spine. (11679606)
2001
24
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
25
Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). (10453738)
1999
26
Ossification of the posterior longitudinal ligament of the spine. A case-control risk factor study. (9926384)
1999
27
Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. (9662402)
1998
28
Involvement of insulin-like growth factor I in development of ossification of the posterior longitudinal ligament of the spine. (9437050)
1998
29
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
30
Genetic mapping of ossification of the posterior longitudinal ligament of the spine. (9585596)
1998
31
Ossification of the posterior longitudinal ligament of the spine: a case report. (7640970)
1995
32
Characterization of cultured cells derived from ossification of the posterior longitudinal ligament of the spine. (8392854)
1993
33
Increase of serum growth hormone-binding protein in patients with ossification of the posterior longitudinal ligament of the spine. (8235858)
1993
34
Diagnosis and treatment of ossification of the posterior longitudinal ligament of the spine: report of eight cases and literature review. (1546729)
1992
35
Genetic studies on ossification of the posterior longitudinal ligament of the spine. (2513651)
1989
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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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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Pathways related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards Suite gene sharing:

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 adhesion36
Focal Adhesion36
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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Compounds related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1phosphorus439.5PTH1R, PTH
21,25 dihydroxy vitamin d3439.4PTH1R, PTH
3ibmx43 59 2811.4PTH, PTH1R
4inositol 1,4,5 trisphosphate439.3PTH1R, PTH
5vitamin d439.3PTH1R, PTH
6calcitriol43 59 24 1212.2PTH1R, PTH
7cyclic amp43 2410.1ENPP1, PTH1R, PTH
8ribonucleic acid439.0PTH1R, PTH
9dexamethasone43 49 28 1212.0PTH, PTH1R, ENPP1

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:00163239.5ENPP1, PTH1R
2endoplasmic reticulum lumenGO:00057889.0COL6A1, COL11A2
3lysosomal membraneGO:00057658.9ENPP1, COL6A1
4extracellular regionGO:00055768.5COL6A1, COL11A2, PTH

Biological processes related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1bone resorptionGO:00454539.4PTH1R, PTH
2adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.3PTH, PTH1R
3G-protein coupled receptor signaling pathwayGO:00071869.3PTH1R, PTH
4collagen catabolic processGO:00305749.0COL6A1, COL11A2
5skeletal system developmentGO:00015018.9COL11A2, PTH1R, PTH
6extracellular matrix disassemblyGO:00226178.8COL6A1, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet