MCID: OSS010
MIFTS: 40

Ossification of the Posterior Longitudinal Ligament of the Spine malady

Categories: Genetic diseases, Rare diseases, Muscle diseases

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

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

Name: Ossification of the Posterior Longitudinal Ligament of the Spine 45 49 67 24
Opll 45 67
 
Ossification of the Posterior Longitudinal Ligament of Spine 65

Characteristics:

HPO:

61
ossification of the posterior longitudinal ligament of the spine:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

MedGen34 C1865343
MeSH36 D017887
OMIM49 602475
UMLS65 C1865343

Summaries for Ossification of the Posterior Longitudinal Ligament of the Spine

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NIH Rare Diseases:45 Ossification of the posterior longitudinal ligament of the spine (opll) is a condition that is characterized by the calcification of the soft tissues that connect the bones of the spine, which may lead to compression of the spinal cord. many affected people do not have any signs or symptoms, while others may experience mild pain or numbness in the arms and/or legs. in some cases, opll may be associated with other conditions such as genetic diseases (i.e. hypophosphatemic rickets), endocrine disorders (i.e. acromegaly, hypoparathyroidism), spondyloarthropathies (i.e. ankylosing spondylitis), and diffuse idiopathic skeletal hyperostosis. opll is most commonly diagnosed in men, people of asian descent and people over age 50. the exact underlying cause is currently unknown; however, scientists suspect that it is a multifactorial condition that is influenced by several different genetic and environmental factors. the treatment of opll depends the severity of the condition and the signs and symptoms present in each person. if more conservative treatments such as nsaids are not effective, surgery may be necessary. last updated: 5/4/2015

MalaCards based summary: Ossification of the Posterior Longitudinal Ligament of the Spine, also known as opll, is related to insulin-like growth factor i and atherosclerosis, and has symptoms including increased bone mineral density, myelopathy and spinal cord compression. 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 Nuclear Receptor transcription pathway and Endocrine and other factor-regulated calcium reabsorption. Affiliated tissues include spinal cord, bone and heart, and related mouse phenotypes are muscle and hearing/vestibular/ear.

OMIM:49 Ossification of the posterior longitudinal ligament of the spine (OPLL) can cause spinal-cord compression (Ono et al.,... (602475) more...

UniProtKB/Swiss-Prot:67 Ossification of the posterior longitudinal ligament of the spine: A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. Patients with OPLL frequently present with a severe myelopathy that can lead to tetraparesis.

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

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluation of Fusion Rate of Anterior Cervical Discectomy and Fusion (ACDF) Using Cervios ChronOs™ and Bonion™CompletedNCT01615328Phase 4

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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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:

33
Spinal cord, Bone, Heart, Prostate, Cervix, Neutrophil, Thalamus

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.3COL6A1, ENPP1, ESR1, VDR
2MP:00053778.2BMP2, COL11A2, ENPP1, VDR
3MP:00053907.9BMP2, COL11A2, ENPP1, ESR1, VDR
4MP:00053787.8BMP2, COL11A2, ENPP1, ESR1, VDR

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 41)
idTitleAuthorsYear
1
Circulating sclerostin and dickkopf-1 levels in ossification of the posterior longitudinal ligament of the spine. (26040409)
2015
2
A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. (25064007)
2014
3
Genetics of ossification of the posterior longitudinal ligament of the spine: a mini review. (25006569)
2014
4
Association between single nucleotide polymorphism of IL15RA gene with susceptibility to ossification of the posterior longitudinal ligament of the spine. (25387549)
2014
5
Genomic study of ossification of the posterior longitudinal ligament of the spine. (25504229)
2014
6
Association of VKORC1-1639G>A polymorphism with susceptibility to ossification of the posterior longitudinal ligament of the spine: a Korean study. (23732872)
2013
7
A genome-wide sib-pair linkage analysis of ossification of the posterior longitudinal ligament of the spine. (23138351)
2013
8
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
9
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
10
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
11
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
12
A case of Castleman's disease associated with diffuse idiopathic skeletal hyperostosis and ossification of the posterior longitudinal ligament of the spine. (17929136)
2007
13
A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine. (16609882)
2006
14
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
15
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
16
Significance of bone formation markers in patients with ossification of the posterior longitudinal ligament of the spine. (12590214)
2003
17
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
18
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
19
Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine. (11771660)
2002
20
Twy mouse and ossification of the posterior longitudinal ligament of the spine (OPLL)]. (15775405)
2002
21
Large-scale screening for candidate genes of ossification of the posterior longitudinal ligament of the spine. (11771659)
2002
22
Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine. (11341341)
2001
23
Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine. (11289713)
2001
24
Insulin secretory response is positively associated with the extent of ossification of the posterior longitudinal ligament of the spine. (11679606)
2001
25
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
26
Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). (10453738)
1999
27
Ossification of the posterior longitudinal ligament of the spine. A case-control risk factor study. (9926384)
1999
28
Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. (9662402)
1998
29
Involvement of insulin-like growth factor I in development of ossification of the posterior longitudinal ligament of the spine. (9437050)
1998
30
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
31
Genetic mapping of ossification of the posterior longitudinal ligament of the spine. (9585596)
1998
32
Ossification of the posterior longitudinal ligament of the spine: a case report. (7640970)
1995
33
Characterization of cultured cells derived from ossification of the posterior longitudinal ligament of the spine. (8392854)
1993
34
Increase of serum growth hormone-binding protein in patients with ossification of the posterior longitudinal ligament of the spine. (8235858)
1993
35
Diagnosis and treatment of ossification of the posterior longitudinal ligament of the spine: report of eight cases and literature review. (1546729)
1992
36
Genetic studies on ossification of the posterior longitudinal ligament of the spine. (2513651)
1989
37
Ossification of the posterior longitudinal ligament of the spine. (6423334)
1984
38
Cervical myelopathy caused by ossification of the posterior longitudinal ligament of the spine. A case report. (6816605)
1982
39
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
40
Ossification of the posterior longitudinal ligament of the spine. (117867)
1979
41
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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UniProtKB/Swiss-Prot genetic disease variations for Ossification of the Posterior Longitudinal Ligament of the Spine:

67
id Symbol AA change Variation ID SNP ID
1ENPP1p.Leu91ProVAR_014141
2ENPP1p.Ser287PheVAR_014143rs190947144

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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4ESR1, VDR
29.4ESR1, VDR
39.4ESR1, VDR
49.2COL11A2, COL6A1
5
Show member pathways
8.6BMP2, COL11A2, COL6A1

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

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:00020629.9BMP2, COL11A2
2organ morphogenesisGO:00098879.7BMP2, VDR
3positive regulation of ERK1 and ERK2 cascadeGO:00703749.7BMP2, ESR1
4extracellular matrix organizationGO:00301989.4BMP2, COL11A2
5extracellular matrix disassemblyGO:00226179.1COL11A2, COL6A1
6negative regulation of transcription from RNA polymerase II promoterGO:00001228.9BMP2, ESR1, VDR
7positive regulation of transcription from RNA polymerase II promoterGO:00459448.8BMP2, ESR1, VDR

Sources for Ossification of the Posterior Longitudinal Ligament of the Spine

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet