OPLL
MCID: OSS010
MIFTS: 40

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

Muscle category

Summaries for Ossification of the Posterior Longitudinal Ligament of the Spine

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47OMIM, 33MalaCards
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MalaCards: Ossification of the Posterior Longitudinal Ligament of the Spine, also known as ossification of the posterior longitudinal ligament of spine, is related to diffuse idiopathic skeletal hyperostosis and atherosclerosis. 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 Platelet degranulation and Senescence and Autophagy. The compounds estrogen and pge2 have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, and related mouse phenotypes are limbs/digits/tail and adipose tissue.

Description from OMIM:47 602475

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

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 61UMLS
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Classifications:

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


Aliases & Descriptions:

ossification of the posterior longitudinal ligament of the spine 43 22
ossification of the posterior longitudinal ligament of spine 61
ossification of posterior longitudinal ligament of spine 47
opll 43


Related Diseases for Ossification of the Posterior Longitudinal Ligament of the Spine

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Ossification of the Posterior Longitudinal Ligament of the Spine via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 188)
idRelated DiseaseScoreTop Affiliating Genes
1diffuse idiopathic skeletal hyperostosis30.8COL6A1
2atherosclerosis30.7TGFB1, ENPP1, LEPR, IL1B, IL1A, CDH13
3castleman's disease10.5
4ullrich congenital muscular dystrophy10.0
5bethlem myopathy10.0
6ossification of the posterior longitudinal spinal ligaments10.0
7down syndrome10.0COL6A1
8spondylosis10.0COL6A1
9morbid obesity10.0LEPR
10myocardial infarction10.0ENPP1
11prostatitis10.0VDR
12bullous keratopathy10.0IL1A
13spinal stenosis10.0COL6A1
14paget's disease of bone10.0ALPP
15myopia 610.0COL11A2
16hepatitis c10.0LEPR
17hepatitis10.0ALPP
18essential hypertension10.0LEPR
19alopecia10.0VDR
20multiple system atrophy10.0CRYAB
21insulinoma10.0LEPR
22multiple myeloma10.0IGF1
23alopecia areata10.0IL1A
24ischemia10.0CRYAB
25peritonitis10.0IL1B
26dementia10.0CRYAB
27biliary atresia10.0TGFB1
28leiomyoma10.0ESR1
29retinopathy of prematurity10.0IGF1
30cataract10.0CRYAB
31schistosomiasis10.0IL1A
32turner syndrome10.0IGF1
33dermatitis10.0IL1A
34angiomyolipoma10.0ESR1
35marfan syndrome10.0CD36
36dilated cardiomyopathy10.0CRYAB
37panhypopituitarism10.0IGF1
38wilms tumor10.0CDH13
39myositis10.0IL1A
40nephrolithiasis10.0VDR, PTH
41poems syndrome10.0IL1B
42goiter10.0BGLAP, PTH
43hyperostosis10.0BGLAP, COL6A1
44thyroid cancer10.0PTH, BGLAP
45root resorption10.0BMP2
46silicosis10.0IL1A
47malaria10.0CD36
48liver cirrhosis10.0LEPR, TGFB1
49hyperprolactinemia10.0IGF1
50osteomyelitis10.0BMP2

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

Clinical Features for Ossification of the Posterior Longitudinal Ligament of the Spine

Sources:
47OMIM
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Clinical features from OMIM:

602475

Clinical synopsis from OMIM:

602475

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Ossification of the Posterior Longitudinal Ligament of the Spine

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

Search CenterWatch 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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22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Ossification of the Posterior Longitudinal Ligament of the Spine:

33
Spinal cord

Animal Models for Ossification of the Posterior Longitudinal Ligament of the Spine or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Ossification of the Posterior Longitudinal Ligament of the Spine:

37 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.5BMP4
2MP:000537510.4ENPP1, CRYAB
3MP:000537710.2BMP2
4MP:000536710.1BMP4
5MP:00107719.7VDR, LEPR, ENPP1, TGFB1
6MP:00020069.6IGF1, CDH13, IL1B, TGFB1
7MP:00053799.6TGFB1, BMP4, LEPR, VDR
8MP:00053899.4BMP4, VDR, LEPR, TGFB1, BMP2
9MP:00036319.3BMP2, TGFB1, ENPP1, VDR, CRYAB, BMP4
10MP:00053909.0IGF1, CRYAB, BMP2, COL11A2, ENPP1, LEPR
11MP:00053769.0CDH13, ENPP1, IGF1, VDR, CD36, LEPR
12MP:00053829.0COL11A2, BMP2, BMP4, CRYAB, VDR, PTH1R
13MP:00053818.7PTH1R, BMP2, BMP4, CRYAB, VDR, CD36
14MP:00053698.6ENPP1, CD36, TGFB1, ESR1, VDR, IGF1
15MP:00053878.4LEPR, IL1B, IL1A, ENPP1, VDR, CD36
16MP:00053978.2LEPR, TGFB1, ESR1, PTH, IL1A, CD36
17MP:00053857.7IL1A, BMP2, BMP4, IGF1, IL1B, LEPR
18MP:00053787.6CD36, BMP2, TGFB1, ALPP, ESR1, ENPP1
19MP:00107687.2TGFB1, ALPP, ESR1, ENPP1, PTH1R, BMP2

Publications for Ossification of the Posterior Longitudinal Ligament of the Spine

Genetic Variations for Ossification of the Posterior Longitudinal Ligament of the Spine

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Ossification of the Posterior Longitudinal Ligament of the Spine:

63
id Symbol AA change Variation SNP ID
1ENPP1p.Leu91ProVAR_014141
2ENPP1p.Ser287PheVAR_014143rs190947144

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ossification of the Posterior Longitudinal Ligament of the Spine

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

Sources:
54Reactome, 38NCBI BioSystems Database, 53R&D Systems, 52QIAGEN, 30KEGG, 56SinoBiological, 12EMD Millipore
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Pathways related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3CD36
210.2BMP2
310.1PTH, PTH1R
410.0IL1B, IL1A
510.0TGFB1, IL1B
6
Hide members
9.9BMP4, BMP2
79.9PTH1R, VDR, ESR1
89.8CD36, IL1B, IL1A
99.8TGFB1, IL1B, IL1A
109.7BMP4, TGFB1, IGF1
11
Hide members
9.6BMP4, TGFB1, BMP2
129.6TGFB1, BMP2, BMP4
139.6BMP2, BMP4, TGFB1
149.6IL1B, VDR, IL1A, TGFB1
15
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
9.5VDR, PTH1R, PTH, BGLAP
16
Hide members
9.5COL6A1, BMP2, BMP4, COL11A2
179.5TGFB1, IGF1, PTH1R, ENPP1, PTH
18
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
9.5IL1A, VDR, IGF1, PTH1R, PTH
19
Hide members
9.4BMP2, TGFB1, IGF1, BMP4
209.4BMP4, BMP2, TGFB1, IGF1
21
Hide members
9.3COL11A2, COL6A1, BMP2, BMP4, IGF1
22
Hide members
9.0COL6A1, BMP2, CDH13, ESR1, BMP4, COL11A2
23
Hide members
8.9BMP2, TGFB1, IL1A, IGF1, BMP4, IL1B
24
Hide members
8.9BMP4, BMP2, IGF1, IL1A, IL1B, TGFB1
25
Hide members
8.8ESR1, CDH13, IGF1, BMP2, TGFB1, BMP4

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

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 2BitterDB, 24HMDB
See all sources

Compounds related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards/GeneDecks:

(show top 50)    (show all 139)
idCompoundScoreTop Affiliating Genes
1estrogen4510.7VDR
2pge24510.5PTH1R, TGFB1
3cycloheximide4510.4ALPP, PTH
4procollagen4510.3ALPP, TGFB1
5calcium carbonate4510.0PTH, BGLAP, CD36
6alginate4510.0BGLAP, IGF1, CD36
7clodronate45 50 1112.0VDR, CD36, IL1B
8deoxypyridinoline459.9PTH, VDR, CD36, BGLAP
9raloxifene45 29 50 1112.8BMP2, ESR1, CD36, IGF1
10teriparatide45 1110.8ESR1, PTH1R, CD36, BGLAP
11pirfenidone45 6010.8IL1A, CD36, IL1B, TGFB1
12hydrocortisone45 2 60 1112.8IGF1, ALPP, BGLAP
13alizarin red s459.7TGFB1, BMP2, BGLAP
1422-oxacalcitriol459.7CD36, ALPP, VDR, BGLAP
151,25 dihydroxy vitamin d3459.6PTH, PTH1R, BGLAP, BMP2, VDR
16tamoxifen45 50 29 1112.5ALPP, TGFB1, VDR, IGF1, PTH
17pamidronate45 50 1111.5BGLAP, CD36, PTH, ALPP
18alizarin459.5BGLAP, BMP2, CD36, ALPP
19phosphorus459.5ALPP, BGLAP, VDR, PTH1R, PTH
20hydroxyapatite459.5CD36, BGLAP, ENPP1, ALPP
21risedronate45 60 50 29 1113.4ALPP, IL1B, CD36, BGLAP, ESR1
22hydroxyproline45 11 2411.3PTH, BGLAP, CD36, ALPP, TGFB1
2325-hydroxyvitamin d459.3IGF1, PTH, CD36, VDR, BGLAP, ALPP
24chitosan459.3CD36, BMP2, BGLAP, ALPP
25cyclosporin a45 29 6011.3BGLAP, BMP2, BMP4, VDR
26titanium459.2ALPP, CD36, BGLAP, BMP4, BMP2
27pyridinoline459.2IGF1, CD36, ALPP, BGLAP
28ibmx45 29 6011.2IGF1, PTH, PTH1R, IL1B, ALPP, BMP2
29glutamine459.2CRYAB, TGFB1, ENPP1, LEPR, IL1A, CD36
30dihydrotestosterone45 29 11 2412.1ESR1, VDR, IGF1, BMP2, BGLAP, TGFB1
31thyroxine45 2410.0ALPP, PTH, LEPR, TGFB1, VDR, IGF1
32ascorbic acid45 249.8IL1A, BMP2, BMP4, VDR, BGLAP, CD36
33ribonucleic acid458.8LEPR, PTH1R, IL1A, PTH, BMP4, TGFB1
34genistein45 29 60 2 11 2413.8ALPP, IL1B, ESR1, IL1A, CD36, VDR
35alendronate45 50 1110.7CD36, PTH, ESR1, ALPP, VDR, BMP2
36serine458.7IL1A, ALPP, PTH1R, LEPR, BGLAP, BMP2
37dexamethasone45 50 29 1111.7LEPR, BGLAP, PTH1R, PTH, ENPP1, ALPP
38actinomycin d458.7CRYAB, TGFB1, ESR1, IL1B, IGF1, IL1A
39progesterone45 60 29 11 2412.6IL1A, BMP2, BMP4, CRYAB, ESR1, LEPR
40creatinine458.5IL1A, VDR, IGF1, PTH, BGLAP, BMP2
41testosterone45 60 11 2411.5IGF1, IL1A, PTH, ESR1, ALPP, LEPR
42paraffin458.4CD36, CDH13, CRYAB, ESR1, TGFB1, ALPP
43arginine458.4COL11A2, BGLAP, ALPP, BMP2, PTH, LEPR
44vitamin d458.4LEPR, BMP2, BGLAP, IGF1, CD36, VDR
45sb 20358045 609.1VDR, BGLAP, TGFB1, ALPP, IL1B, IL1A
46calcitriol45 60 11 2411.1PTH1R, IL1A, TGFB1, ALPP, IL1B, CD36
47thymidine45 249.0IL1B, LEPR, PTH1R, PTH, ALPP, TGFB1
48vegf457.7ESR1, ALPP, TGFB1, IL1B, PTH, LEPR
49retinoic acid45 248.4BGLAP, BMP2, IL1B, IGF1, VDR, CD36
50calcium45 50 11 2410.2CD36, CDH13, LEPR, PTH, PTH1R, VDR

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

Sources:
16Gene Ontology
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Cellular components related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.0CRYAB, CD36, ENPP1, ALPP, TGFB1, BMP2
2extracellular spaceGO:0056157.8PTH, ENPP1, IL1B, IL1A, CDH13, IGF1
3extracellular regionGO:0055767.5TGFB1, COL11A2, PTH, LEPR, IL1B, IL1A

Biological processes related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards/GeneDecks:

(show all 47)
idNameGO IDScoreTop Affiliating Genes
1sequestering of triglycerideGO:03073010.5ENPP1, IL1B
2mammary gland branching involved in pregnancyGO:06074510.4ESR1, VDR
3fever generationGO:00166010.4IL1B, IL1A
4low-density lipoprotein particle mediated signalingGO:05509610.4CD36, CDH13
5positive regulation of odontogenesisGO:04248210.3TGFB1, BMP2
6bone mineralization involved in bone maturationGO:03563010.3BMP2, IGF1
7mesenchymal cell proliferation involved in ureteric bud developmentGO:07213810.3BMP2, BMP4
8common-partner SMAD protein phosphorylationGO:00718210.2TGFB1, BMP4
9BMP signaling pathway involved in heart inductionGO:00313010.2BMP2, BMP4
10prostate epithelial cord arborization involved in prostate glandular acinus morphogenesisGO:06052710.2ESR1, IGF1
11telencephalon regionalizationGO:02197810.2BMP4, BMP2
12regulation of branching involved in prostate gland morphogenesisGO:06068710.2BMP4, ESR1
13positive regulation vascular endothelial growth factor productionGO:01057510.2TGFB1, IL1B, IL1A
14regulation of odontogenesis of dentin-containing toothGO:04248710.2BMP2, BMP4
15positive regulation of mitosisGO:04584010.2IL1A, IGF1, IL1B
16positive regulation of SMAD protein import into nucleusGO:06039110.1BMP4, TGFB1
17response to estradiol stimulusGO:03235510.1ESR1, CRYAB, TGFB1
18positive regulation of cell divisionGO:05178110.1IL1B, IL1A, TGFB1
19cellular calcium ion homeostasisGO:00687410.1VDR, TGFB1, PTH
20cellular response to organic cyclic compoundGO:07140710.1BMP2, IL1B, TGFB1
21negative regulation of myoblast differentiationGO:04566210.1BMP4, TGFB1
22inner ear developmentGO:04883910.1BMP2, TGFB1, IGF1
23positive regulation of pathway-restricted SMAD protein phosphorylationGO:01086210.0BMP2, BMP4, TGFB1
24positive regulation of epithelial cell proliferationGO:05067910.0BMP4, TGFB1, IGF1
25positive regulation of smooth muscle cell proliferationGO:04866110.0BMP4, IGF1, CDH13
26positive regulation of cartilage developmentGO:06103610.0BMP4, BMP2
27negative regulation of cell cycleGO:04578610.0BMP4, BMP2, TGFB1
28bone mineralizationGO:03028210.0BMP2, BGLAP, PTH1R
29positive regulation of MAPK cascadeGO:04341010.0CD36, IGF1, BMP2
30platelet degranulationGO:0025769.9IGF1, CD36, TGFB1
31positive regulation of osteoblast differentiationGO:0456699.9BMP4, BMP2, IGF1
32pathway-restricted SMAD protein phosphorylationGO:0603899.9BMP2, TGFB1
33positive regulation of ossificationGO:0457789.9BMP2, BMP4
34positive regulation of endothelial cell proliferationGO:0019389.9BMP4, CDH13, BMP2
35positive regulation of bone mineralizationGO:0305019.9TGFB1, PTH, BMP4, BMP2
36chondrocyte differentiationGO:0020629.9TGFB1, PTH1R, BMP4, BMP2
37response to vitamin DGO:0332809.8TGFB1, BGLAP
38agingGO:0075689.8CRYAB, PTH1R, TGFB1
39positive regulation of protein phosphorylationGO:0019349.8IL1B, BMP4, TGFB1, BMP2
40osteoblast differentiationGO:0016499.8BGLAP, BMP2, BMP4
41extracellular matrix organizationGO:0301989.7BMP2, BMP4, COL6A1, TGFB1, COL11A2
42positive regulation of interleukin-2 biosynthetic processGO:0450869.7IL1B, IL1A
43negative regulation of transcription from RNA polymerase II promoterGO:0001229.4TGFB1, BMP4, BMP2, PTH, VDR, CD36
44positive regulation of transcription, DNA-dependentGO:0458939.3IL1B, BMP4, IGF1, TGFB1, BMP2
45skeletal system developmentGO:0015019.2PTH1R, COL11A2, BGLAP, BMP2, IGF1, VDR
46negative regulation of cell proliferationGO:0082858.7CDH13, BMP2, BMP4, IGF1, VDR, IL1B
47positive regulation of transcription from RNA polymerase II promoterGO:0459448.4IL1A, IL1B, PTH, ESR1, TGFB1, CDH13

Molecular functions related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lipoprotein particle bindingGO:07181310.0CDH13, CD36
2BMP receptor bindingGO:0707009.6BMP4, BMP2
3growth factor activityGO:0080839.4BMP4, BMP2, IGF1, TGFB1
4cytokine activityGO:0051259.3IL1B, BMP2, BMP4, IL1A

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet