MCID: OSS010
MIFTS: 44

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 48 52 70 27
Opll 48 70
Ossification of the Posterior Longitudinal Ligament of Spine 68
 
Ossification of Posterior Longitudinal Ligament of Spine 12
Ossification of Posterior Longitudinal Ligament 39

Characteristics:

HPO:

64
ossification of the posterior longitudinal ligament of the spine:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

MedGen37 C1865343
MeSH39 D017887
OMIM52 602475

Summaries for Ossification of the Posterior Longitudinal Ligament of the Spine

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NIH Rare Diseases:48 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 commensal bacterial infectious disease and humeroradial synostosis, 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 Id Signaling Pathway and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include spinal cord and bone, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

OMIM:52 Ossification of the posterior longitudinal ligament of the spine (OPLL) can cause spinal-cord compression (Ono et al.,... (602475) more...

UniProtKB/Swiss-Prot:70 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 46)
idRelated DiseaseScoreTop Affiliating Genes
1commensal bacterial infectious disease10.3ENPP1, PTH
2humeroradial synostosis10.2BMP2, COL11A2
3tuberous sclerosis-110.2ENPP1, PTH
4cervicitis10.2
5cardiovascular organ benign neoplasm10.2IGF1, PTH
6weaver syndrome 110.1PTH, VDR
7substance dependence10.1PTH, VDR
8central nervous system hemangioma10.1IGF1, PTH
9capillariasis10.1PTH, VDR
10vestibular gland benign neoplasm10.1IGF1, PTH
11sensory peripheral neuropathy10.1PTH, VDR
12cervix disease10.1PTH, VDR
13bacillary angiomatosis10.1PTH, VDR
14ovarian insufficiency, familial10.1BMP2, PTH
15angelucci's syndrome10.1PTH, VDR
16acquired hyperkeratosis10.1PTH, VDR
17mild pre-eclampsia10.1PTH, VDR
18reardon wilson cavanagh syndrome10.1IGF1, VDR
19loeys-dietz syndrome10.1PTH, VDR
20thbd-related atypical hemolytic-uremic syndrome10.1IGF1, VDR
21astrakhan spotted fever10.1PTH, VDR
22allergic conjunctivitis10.0PTH, VDR
23brugada syndrome10.0IGF1, VDR
24male reproductive organ benign neoplasm10.0IGF1, PTH
25insulin-like growth factor i10.0
26atherosclerosis10.0
27hyperostosis10.0
28diffuse idiopathic skeletal hyperostosis10.0
29adenylosuccinase lyase deficiency10.0IGF1, PTH
30leukodystrophy10.0PTH, VDR
31breast mucoepidermoid carcinoma10.0PTH, VDR
32chronic myelomonocytic leukemia9.9PTH, VDR
33congenital hypomyelination neuropathy9.9IGF1, VDR
34pseudobulbar palsy9.8PTH, VDR
35protein-losing enteropathy9.8ENPP1, PTH, VDR
36interval angle-closure glaucoma9.8PTH, VDR
37survival motor neuron spinal muscular atrophy9.8IGF1, PTH
38quadriplegia9.8
39spondylosis9.8
40small cell cancer of the lung, somatic9.8BMP2, IGF1, PTH
41arterial calcification, generalized, of infancy, 29.7ENPP1, VKORC1
42lung occult small cell carcinoma9.5PTH, VDR
43physical disorder9.2BMP2, IGF1, PTH, VDR
44bone deterioration disease9.2BMP2, IGF1, PTH, VDR
45chylomicron retention disease9.2BMP2, IGF1, PTH, VDR
46opthalmomandibulomelic dysplasia9.0BMP2, COL11A2, ENPP1, PTH, VDR

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 & Phenotypes 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

Human phenotypes related to Ossification of the Posterior Longitudinal Ligament of the Spine:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 diabetes mellitus64 HP:0000819
2 abnormality of the vertebral column64 HP:0000925
3 hyperreflexia64 HP:0001347
4 spinal cord compression64 HP:0002176
5 myelopathy64 HP:0002196
6 increased bone mineral density64 HP:0011001

MGI Mouse Phenotypes related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3BMP2, COL11A2, PTH, VDR
2MP:00053778.8BMP2, COL11A2, ENPP1, IGF1, VDR
3MP:00053788.4BMP2, COL11A2, ENPP1, IGF1, PTH, VDR
4MP:00053718.3BMP2, IGF1, PTH, VDR, VKORC1
5MP:00053858.0BMP2, ENPP1, IGF1, PTH, VDR, VKORC1
6MP:00053767.9BMP2, ENPP1, IGF1, PTH, VDR, VKORC1
7MP:00053906.7BMP2, COL11A2, ENPP1, IGF1, PTH, VDR

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 Spine27

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:

36
Spinal cord, Bone

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 43)
idTitleAuthorsYear
1
Prevalence and distribution of ossification of the supra/interspinous ligaments in symptomatic patients with cervical ossification of the posterior longitudinal ligament of the spine: a CT-based multicenter cross-sectional study. (27903251)
2016
2
Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine. (27374772)
2016
3
Circulating sclerostin and dickkopf-1 levels in ossification of the posterior longitudinal ligament of the spine. (26040409)
2015
4
Genomic study of ossification of the posterior longitudinal ligament of the spine. (25504229)
2014
5
A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. (25064007)
2014
6
Genetics of ossification of the posterior longitudinal ligament of the spine: a mini review. (25006569)
2014
7
Association between single nucleotide polymorphism of IL15RA gene with susceptibility to ossification of the posterior longitudinal ligament of the spine. (25387549)
2014
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 VKORC1-1639G>A polymorphism with susceptibility to ossification of the posterior longitudinal ligament of the spine: a Korean study. (23732872)
2013
10
A genome-wide sib-pair linkage analysis of ossification of the posterior longitudinal ligament of the spine. (23138351)
2013
11
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
12
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
13
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
14
A case of Castleman's disease associated with diffuse idiopathic skeletal hyperostosis and ossification of the posterior longitudinal ligament of the spine. (17929136)
2007
15
A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine. (16609882)
2006
16
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
17
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
18
Significance of bone formation markers in patients with ossification of the posterior longitudinal ligament of the spine. (12590214)
2003
19
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
20
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
21
Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine. (11771660)
2002
22
Twy mouse and ossification of the posterior longitudinal ligament of the spine (OPLL)]. (15775405)
2002
23
Large-scale screening for candidate genes of ossification of the posterior longitudinal ligament of the spine. (11771659)
2002
24
Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine. (11289713)
2001
25
Insulin secretory response is positively associated with the extent of ossification of the posterior longitudinal ligament of the spine. (11679606)
2001
26
Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine. (11341341)
2001
27
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
28
Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). (10453738)
1999
29
Ossification of the posterior longitudinal ligament of the spine. A case-control risk factor study. (9926384)
1999
30
Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. (9662402)
1998
31
Involvement of insulin-like growth factor I in development of ossification of the posterior longitudinal ligament of the spine. (9437050)
1998
32
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
33
Genetic mapping of ossification of the posterior longitudinal ligament of the spine. (9585596)
1998
34
Ossification of the posterior longitudinal ligament of the spine: a case report. (7640970)
1995
35
Characterization of cultured cells derived from ossification of the posterior longitudinal ligament of the spine. (8392854)
1993
36
Increase of serum growth hormone-binding protein in patients with ossification of the posterior longitudinal ligament of the spine. (8235858)
1993
37
Diagnosis and treatment of ossification of the posterior longitudinal ligament of the spine: report of eight cases and literature review. (1546729)
1992
38
Genetic studies on ossification of the posterior longitudinal ligament of the spine. (2513651)
1989
39
Ossification of the posterior longitudinal ligament of the spine. (6423334)
1984
40
Cervical myelopathy caused by ossification of the posterior longitudinal ligament of the spine. A case report. (6816605)
1982
41
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
42
Ossification of the posterior longitudinal ligament of the spine. (117867)
1979
43
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:

70
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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Cellular components related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.6BMP2, ENPP1, IGF1, PTH

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cellular response to insulin stimulusGO:003286910.3ENPP1, IGF1
2chondrocyte differentiationGO:000206210.3BMP2, COL11A2
3positive regulation of bone mineralizationGO:003050110.2BMP2, PTH
4positive regulation of glucose importGO:004632610.2IGF1, PTH
5positive regulation of glycogen biosynthetic processGO:004572510.2IGF1, PTH
6positive regulation of ossificationGO:004577810.2BMP2, PTH
7bone mineralization involved in bone maturationGO:003563010.2BMP2, IGF1
8positive regulation of fat cell differentiationGO:004560010.2BMP2, IGF1
9positive regulation of MAPK cascadeGO:004341010.1BMP2, IGF1
10positive regulation of osteoblast differentiationGO:004566910.1BMP2, IGF1
11positive regulation of transcription from RNA polymerase II promoterGO:00459448.9BMP2, IGF1, PTH, VDR
12skeletal system developmentGO:00015017.9BMP2, COL11A2, IGF1, 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
1insulin receptor bindingGO:00051589.6ENPP1, IGF1

Sources for Ossification of the Posterior Longitudinal Ligament of the Spine

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet