OPLL
MCID: OSS014
MIFTS: 41

Ossification of the Posterior Longitudinal Ligament of Spine (OPLL) malady

Categories: Genetic diseases, Rare diseases, Muscle diseases

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

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

Name: Ossification of the Posterior Longitudinal Ligament of Spine 11 13 68
Ossification of the Posterior Longitudinal Ligament of the Spine 48 52 70 27
Opll 11 48 70
 
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:

Disease Ontology11 DOID:0060887
MedGen37 C1865343
MeSH39 D017887
OMIM52 602475

Summaries for Ossification of the Posterior Longitudinal Ligament of 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 Spine, also known as ossification of the posterior longitudinal ligament of the spine, is related to hypophosphatasia, adult and epidermolysis bullosa acquisita, 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 Spine is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1), and among its related pathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and FGF signaling pathway. Affiliated tissues include spinal cord and bone, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Disease Ontology:11 A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia.

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 Spine

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Graphical network of the top 20 diseases related to Ossification of the Posterior Longitudinal Ligament of Spine:



Diseases related to ossification of the posterior longitudinal ligament of spine

Symptoms & Phenotypes for Ossification of the Posterior Longitudinal Ligament of 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 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 Spine according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8BMP2, BMP4, COL11A2, ENPP1, RSPO2
2MP:00053828.6BMP2, BMP4, COL11A2, RSPO2, RUNX2
3MP:00053907.1BMP2, BMP4, COL11A2, CREB3L1, ENPP1, RSPO2

Drugs & Therapeutics for Ossification of the Posterior Longitudinal Ligament of 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
2UNiD 3D VBR RegisterRecruitingNCT02926391
3Optimal Treatment for Spinal Cord Injury Associated With Cervical Canal Stenosis (OSCIS) StudyRecruitingNCT01485458

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


Cochrane evidence based reviews: ossification of posterior longitudinal ligament

Genetic Tests for Ossification of the Posterior Longitudinal Ligament of Spine

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Genetic tests related to Ossification of the Posterior Longitudinal Ligament of 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 Spine

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

36
Spinal cord, Bone

Publications for Ossification of the Posterior Longitudinal Ligament of Spine

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

idTitleAuthorsYear
1
Linkage of three polymorphisms on chromosome 20p12 to ossification of the posterior longitudinal ligament of spine and its severity in Han Chinese patients. (21034546)
2010

Variations for Ossification of the Posterior Longitudinal Ligament of Spine

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UniProtKB/Swiss-Prot genetic disease variations for Ossification of the Posterior Longitudinal Ligament of 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 Spine

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Search GEO for disease gene expression data for Ossification of the Posterior Longitudinal Ligament of Spine.

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

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

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.6BGLAP, BMP4, COL11A2, COL6A1
2extracellular spaceGO:00056158.4BGLAP, BMP2, BMP4, COL6A1, ENPP1
3extracellular regionGO:00055768.0BGLAP, BMP2, BMP4, COL11A2, COL6A1, ENPP1

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

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1biomineral tissue developmentGO:003121410.5BGLAP, ENPP1
2regulation of bone mineralizationGO:003050010.4BGLAP, ENPP1
3osteoblast developmentGO:000207610.3BGLAP, RUNX2
4positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:190152210.3BMP2, RUNX2
5BMP signaling pathway involved in heart inductionGO:000313010.2BMP2, BMP4
6branching involved in ureteric bud morphogenesisGO:000165810.2BMP2, BMP4
7cardiac muscle cell differentiationGO:005500710.2BMP2, BMP4
8mesenchymal cell proliferation involved in ureteric bud developmentGO:007213810.2BMP2, BMP4
9negative regulation of cell cycleGO:004578610.2BMP2, BMP4
10positive regulation of bone mineralizationGO:003050110.2BMP2, BMP4
11positive regulation of cartilage developmentGO:006103610.2BMP2, BMP4
12positive regulation of cell differentiationGO:004559710.2BMP2, BMP4
13positive regulation of ossificationGO:004577810.2BMP2, BMP4
14positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.2BMP2, BMP4
15positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.2BMP2, BMP4
16odontogenesisGO:004247610.2BGLAP, BMP4
17embryonic cranial skeleton morphogenesisGO:004870110.1BMP4, RUNX2
18endochondral ossificationGO:000195810.1BMP4, RUNX2
19skeletal system morphogenesisGO:004870510.1COL11A2, RUNX2
20positive regulation of collagen biosynthetic processGO:003296710.1BMP4, CREB3L1
21regulation of cell differentiationGO:004559510.0BMP4, RUNX2
22embryonic forelimb morphogenesisGO:00351159.9RSPO2, RUNX2
23cartilage developmentGO:00512169.9BMP2, BMP4, COL11A2
24positive regulation of Wnt signaling pathwayGO:00301779.9BMP2, RSPO2
25cellular response to growth factor stimulusGO:00713639.8BGLAP, BMP2, BMP4
26BMP signaling pathwayGO:00305099.8BMP2, BMP4, RUNX2
27embryonic hindlimb morphogenesisGO:00351169.8BMP4, RSPO2
28epithelial tube branching involved in lung morphogenesisGO:00604419.8BMP4, RSPO2
29cellular response to BMP stimulusGO:00717739.8BMP2, BMP4, RUNX2
30odontogenesis of dentin-containing toothGO:00424759.8BMP2, BMP4, RUNX2
31positive regulation of osteoblast differentiationGO:00456699.7BMP2, BMP4, RUNX2
32telencephalon developmentGO:00215379.7BMP2, BMP4
33bone mineralizationGO:00302829.6BGLAP, BMP2, RSPO2
34regulation of odontogenesis of dentin-containing toothGO:00424879.6BMP2, BMP4, RUNX2
35telencephalon regionalizationGO:00219789.5BMP2, BMP4
36chondrocyte differentiationGO:00020629.4BMP2, BMP4, COL11A2, RUNX2
37ossificationGO:00015039.0BGLAP, BMP2, BMP4, COL11A2, RUNX2
38skeletal system developmentGO:00015018.8BGLAP, BMP2, BMP4, COL11A2, RUNX2
39positive regulation of transcription from RNA polymerase II promoterGO:00459448.6BMP2, BMP4, CREB3L1, NOBOX, RUNX2
40osteoblast differentiationGO:00016497.7BGLAP, BMP2, BMP4, COL6A1, CREB3L1, RSPO2

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

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:004633210.2BMP2, CREB3L1
2BMP receptor bindingGO:007070010.1BMP2, BMP4
3co-receptor bindingGO:003970610.1BMP2, BMP4
4transforming growth factor beta receptor bindingGO:00051609.5BMP2, BMP4
5transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.4CREB3L1, NOBOX, RUNX2

Sources for Ossification of the Posterior Longitudinal Ligament of 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