MCID: OSS010
MIFTS: 42

Ossification of the Posterior Longitudinal Ligament of the Spine malady

Categories: Genetic diseases (common), 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 46 50 68 25
Opll 46 68
Ossification of the Posterior Longitudinal Ligament of Spine 66
 
Ossification of Posterior Longitudinal Ligament of Spine 12
Ossification of Posterior Longitudinal Ligament 37

Characteristics:

HPO:

62
ossification of the posterior longitudinal ligament of the spine:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

MedGen35 C1865343
MeSH37 D017887
OMIM50 602475

Summaries for Ossification of the Posterior Longitudinal Ligament of the Spine

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NIH Rare Diseases:46 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 weaver syndrome 1 and substance dependence, and has symptoms including diabetes mellitus, abnormality of the vertebral column and hyperreflexia. 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 Endochondral Ossification and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include spinal cord and bone, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

OMIM:50 Ossification of the posterior longitudinal ligament of the spine (OPLL) can cause spinal-cord compression (Ono et al.,... (602475) more...

UniProtKB/Swiss-Prot:68 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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Diseases related to Ossification of the Posterior Longitudinal Ligament of the Spine via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1weaver syndrome 110.2PTH, VDR
2substance dependence10.2PTH, VDR
3reardon wilson cavanagh syndrome10.2ESR1, VDR
4capillariasis10.2PTH, VDR
5sensory peripheral neuropathy10.2PTH, VDR
6bacillary angiomatosis10.2PTH, VDR
7angelucci's syndrome10.2PTH, VDR
8commensal bacterial infectious disease10.2ENPP1, PTH
9acquired hyperkeratosis10.2PTH, VDR
10humeroradial synostosis10.2BMP2, COL11A2
11mild pre-eclampsia10.2PTH, VDR
12loeys-dietz syndrome10.1PTH, VDR
13tuberous sclerosis-110.1ENPP1, PTH
14astrakhan spotted fever10.1PTH, VDR
15insulin-like growth factor i10.1
16atherosclerosis10.1
17hyperostosis10.1
18cervicitis10.1
19diffuse idiopathic skeletal hyperostosis10.1
20allergic conjunctivitis10.1PTH, VDR
21systemic mastocytosis10.1BMP2, ESR1
22adenosine triphosphatase deficiency, anemia due to10.0BMP2, ESR1
23leukodystrophy10.0PTH, VDR
24breast mucoepidermoid carcinoma9.9PTH, VDR
25quadriplegia9.9
26spondylosis9.9
27protein-losing enteropathy9.9ENPP1, PTH, VDR
28chronic myelomonocytic leukemia9.9PTH, VDR
29lung occult small cell carcinoma9.9PTH, VDR
30ovarian insufficiency, familial9.9BMP2, PTH
31pseudobulbar palsy9.8PTH, VDR
32myofascial pain syndrome9.8BMP2, COL6A1
33bone structure disease9.7BMP2, COL6A1
34chromosomal disease9.7BMP2, COL6A1
35interval angle-closure glaucoma9.6PTH, VDR
36physical disorder9.1BMP2, ESR1, PTH, VDR
37bone deterioration disease9.1BMP2, ESR1, PTH, VDR
38chylomicron retention disease9.1BMP2, ESR1, PTH, VDR
39cervix disease9.0COL6A1, ESR1, PTH, VDR
40opthalmomandibulomelic dysplasia7.6BMP2, COL11A2, COL6A1, ENPP1, ESR1, PTH

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 diabetes mellitus HP:0000819
2 abnormality of the vertebral column HP:0000925
3 hyperreflexia HP:0001347
4 spinal cord compression HP:0002176
5 myelopathy HP:0002196
6 increased bone mineral density HP:0011001

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
2Optimal Treatment for Spinal Cord Injury Associated With Cervical Canal Stenosis (OSCIS) StudyRecruitingNCT01485458Phase 1, Phase 2
3UNiD 3D VBR RegisterRecruitingNCT02926391

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


Cochrane evidence based reviews: ossification of posterior longitudinal ligament

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 Spine25

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:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0BMP2, COL11A2, ENPP1, VDR
2MP:00053828.8BMP2, COL11A2, PTH, VDR
3MP:00053698.5COL6A1, ENPP1, ESR1, VDR
4MP:00053718.1BMP2, ESR1, PTH, VDR
5MP:00053858.0BMP2, ENPP1, ESR1, PTH, VDR
6MP:00053907.6BMP2, COL11A2, ENPP1, ESR1, PTH, VDR
7MP:00053787.5BMP2, COL11A2, ENPP1, ESR1, PTH, 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 42)
idTitleAuthorsYear
1
Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine. (27374772)
2016
2
Circulating sclerostin and dickkopf-1 levels in ossification of the posterior longitudinal ligament of the spine. (26040409)
2015
3
Genomic study of ossification of the posterior longitudinal ligament of the spine. (25504229)
2014
4
A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. (25064007)
2014
5
Genetics of ossification of the posterior longitudinal ligament of the spine: a mini review. (25006569)
2014
6
Association between single nucleotide polymorphism of IL15RA gene with susceptibility to ossification of the posterior longitudinal ligament of the spine. (25387549)
2014
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 VKORC1-1639G>A polymorphism with susceptibility to ossification of the posterior longitudinal ligament of the spine: a Korean study. (23732872)
2013
9
A genome-wide sib-pair linkage analysis of ossification of the posterior longitudinal ligament of the spine. (23138351)
2013
10
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
11
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
12
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
13
A case of Castleman's disease associated with diffuse idiopathic skeletal hyperostosis and ossification of the posterior longitudinal ligament of the spine. (17929136)
2007
14
A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine. (16609882)
2006
15
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
16
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
17
Significance of bone formation markers in patients with ossification of the posterior longitudinal ligament of the spine. (12590214)
2003
18
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
19
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
20
Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine. (11771660)
2002
21
Twy mouse and ossification of the posterior longitudinal ligament of the spine (OPLL)]. (15775405)
2002
22
Large-scale screening for candidate genes of ossification of the posterior longitudinal ligament of the spine. (11771659)
2002
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
Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine. (11341341)
2001
26
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
27
Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). (10453738)
1999
28
Ossification of the posterior longitudinal ligament of the spine. A case-control risk factor study. (9926384)
1999
29
Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. (9662402)
1998
30
Involvement of insulin-like growth factor I in development of ossification of the posterior longitudinal ligament of the spine. (9437050)
1998
31
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
32
Genetic mapping of ossification of the posterior longitudinal ligament of the spine. (9585596)
1998
33
Ossification of the posterior longitudinal ligament of the spine: a case report. (7640970)
1995
34
Characterization of cultured cells derived from ossification of the posterior longitudinal ligament of the spine. (8392854)
1993
35
Increase of serum growth hormone-binding protein in patients with ossification of the posterior longitudinal ligament of the spine. (8235858)
1993
36
Diagnosis and treatment of ossification of the posterior longitudinal ligament of the spine: report of eight cases and literature review. (1546729)
1992
37
Genetic studies on ossification of the posterior longitudinal ligament of the spine. (2513651)
1989
38
Ossification of the posterior longitudinal ligament of the spine. (6423334)
1984
39
Cervical myelopathy caused by ossification of the posterior longitudinal ligament of the spine. A case report. (6816605)
1982
40
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
41
Ossification of the posterior longitudinal ligament of the spine. (117867)
1979
42
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:

68
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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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 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of glucose importGO:004632510.2ENPP1, ESR1
2mammary gland branching involved in pregnancyGO:006074510.2ESR1, VDR
3positive regulation of ossificationGO:00457789.9BMP2, PTH
4positive regulation of bone mineralizationGO:00305019.9BMP2, PTH
5chondrocyte differentiationGO:00020629.9BMP2, COL11A2
6decidualizationGO:00466979.9ESR1, VDR
7collagen catabolic processGO:00305749.7COL11A2, COL6A1
8skeletal system developmentGO:00015018.7BMP2, COL11A2, PTH, VDR
9positive regulation of transcription from RNA polymerase II promoterGO:00459448.4BMP2, ESR1, PTH, VDR
10negative regulation of transcription from RNA polymerase II promoterGO:00001228.1BMP2, ESR1, PTH, VDR

Molecular functions related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1steroid hormone receptor activityGO:00037079.5ESR1, VDR
2RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:00048799.2ESR1, VDR

Sources for Ossification of the Posterior Longitudinal Ligament of the Spine

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet