OPLL
MCID: OSS010
MIFTS: 49

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

Muscle diseases category

Summaries for Ossification of the Posterior Longitudinal Ligament of the Spine

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46OMIM, 32MalaCards
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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 hyperostosis. 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:46 602475

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

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42NIH Rare Diseases, 22GTR, 46OMIM, 60UMLS
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Classifications:

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


Aliases & Descriptions:

ossification of the posterior longitudinal ligament of the spine 42 22
ossification of the posterior longitudinal ligament of spine 60
ossification of posterior longitudinal ligament of spine 46
opll 42


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

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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 187)
idRelated DiseaseScoreTop Affiliating Genes
1diffuse idiopathic skeletal hyperostosis30.7COL6A1
2hyperostosis30.7BGLAP, COL6A1
3diabetes mellitus30.7IL1B, TGFB1, ALPP, ENPP1, CD36, LEPR
4atherosclerosis30.7IL1B, LEPR, IL1A, ENPP1, TGFB1, IGF1
5cervicitis10.5
6ullrich congenital muscular dystrophy10.0
7bethlem myopathy10.0
8down syndrome10.0COL6A1
9spondylosis10.0COL6A1
10morbid obesity10.0LEPR
11myocardial infarction10.0ENPP1
12prostatitis10.0VDR
13bullous keratopathy10.0IL1A
14spinal stenosis10.0COL6A1
15paget's disease of bone10.0ALPP
16myopia 610.0COL11A2
17hepatitis c10.0LEPR
18hepatitis10.0ALPP
19essential hypertension10.0LEPR
20alopecia10.0VDR
21multiple system atrophy10.0CRYAB
22insulinoma10.0LEPR
23multiple myeloma10.0IGF1
24alopecia areata10.0IL1A
25ischemia10.0CRYAB
26peritonitis10.0IL1B
27dementia10.0CRYAB
28biliary atresia10.0TGFB1
29leiomyoma10.0ESR1
30retinopathy of prematurity10.0IGF1
31cataract10.0CRYAB
32schistosomiasis10.0IL1A
33turner syndrome10.0IGF1
34dermatitis10.0IL1A
35angiomyolipoma10.0ESR1
36marfan syndrome10.0CD36
37dilated cardiomyopathy10.0CRYAB
38panhypopituitarism10.0IGF1
39wilms tumor10.0CDH13
40myositis10.0IL1A
41nephrolithiasis10.0PTH, VDR
42poems syndrome10.0IL1B
43goiter10.0PTH, BGLAP
44thyroid cancer10.0BGLAP, PTH
45root resorption10.0BMP2
46silicosis10.0IL1A
47malaria10.0CD36
48liver cirrhosis10.0TGFB1, LEPR
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

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46OMIM
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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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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

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32MalaCards
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MalaCards organs/tissues related to Ossification of the Posterior Longitudinal Ligament of the Spine:

32
Spinal cord

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

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36MGI
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MGI Mouse Phenotypes related to Ossification of the Posterior Longitudinal Ligament of the Spine:

36 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.5BMP4
2MP:000537510.4CRYAB, ENPP1
3MP:000537710.2BMP2
4MP:000536710.1BMP4
5MP:00107719.7TGFB1, ENPP1, LEPR, VDR
6MP:00020069.6TGFB1, IL1B, CDH13, IGF1
7MP:00053799.6BMP4, VDR, LEPR, TGFB1
8MP:00053899.4BMP2, BMP4, VDR, LEPR, TGFB1
9MP:00036319.3BMP2, BMP4, CRYAB, VDR, ENPP1, TGFB1
10MP:00053909.0ENPP1, COL11A2, BMP2, CRYAB, IGF1, CD36
11MP:00053769.0IGF1, VDR, CD36, CDH13, LEPR, PTH1R
12MP:00053829.0COL11A2, BMP2, BMP4, CRYAB, VDR, PTH1R
13MP:00053818.7BMP2, BMP4, CRYAB, VDR, CD36, LEPR
14MP:00053698.6COL6A1, BMP4, CRYAB, IGF1, VDR, CD36
15MP:00053878.4CRYAB, IGF1, VDR, CD36, IL1A, IL1B
16MP:00053978.2BMP4, IGF1, VDR, CD36, IL1A, LEPR
17MP:00053857.7BMP2, BMP4, IGF1, VDR, CD36, CDH13
18MP:00053787.6VDR, IGF1, CRYAB, BMP4, BMP2, COL11A2
19MP:00107687.2CD36, VDR, IGF1, CRYAB, BMP4, BMP2

Publications for Ossification of the Posterior Longitudinal Ligament of the Spine

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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Ossification of the Posterior Longitudinal Ligament of the Spine:

62
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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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

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53Reactome, 37NCBI BioSystems Database, 52R&D Systems, 51QIAGEN, 29KEGG, 55SinoBiological, 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
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10.3CD36
210.2BMP2
310.1PTH, PTH1R
410.0IL1B, IL1A
510.0IL1B, TGFB1
6
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9.9BMP2, BMP4
79.9ESR1, PTH1R, VDR
89.8IL1B, IL1A, CD36
99.8IL1A, IL1B, TGFB1
109.7TGFB1, IGF1, BMP4
11
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9.6BMP2, BMP4, TGFB1
129.6TGFB1, BMP4, BMP2
139.6BMP2, BMP4, TGFB1
149.6VDR, IL1A, IL1B, TGFB1
15
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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9.5BGLAP, VDR, PTH1R, PTH
16
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9.5COL11A2, COL6A1, BMP2, BMP4
179.5IGF1, PTH1R, PTH, ENPP1, TGFB1
18
Transcription Role of VDR in regulation of genes involved in osteoporosis
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9.5PTH, PTH1R, IL1A, VDR, IGF1
19
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9.4BMP2, BMP4, IGF1, TGFB1
209.4TGFB1, IGF1, BMP4, BMP2
21
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9.3COL11A2, COL6A1, BMP2, BMP4, IGF1
22
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9.0COL11A2, COL6A1, BMP2, BMP4, CDH13, ESR1
23
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8.9BMP2, BMP4, IGF1, IL1A, IL1B, TGFB1
24
Hide members
8.9BMP2, BMP4, IGF1, IL1A, IL1B, TGFB1
25
Hide members
8.8BMP2, BMP4, IGF1, CDH13, ESR1, TGFB1

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

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 2BitterDB, 24HMDB
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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
1estrogen4410.7VDR
2pge24410.5PTH1R, TGFB1
3cycloheximide4410.4ALPP, PTH
4procollagen4410.3ALPP, TGFB1
5calcium carbonate4410.0PTH, BGLAP, CD36
6alginate4410.0BGLAP, IGF1, CD36
7clodronate44 49 1112.0VDR, CD36, IL1B
8deoxypyridinoline449.9PTH, VDR, CD36, BGLAP
9raloxifene44 28 49 1112.8BMP2, ESR1, CD36, IGF1
10teriparatide44 1110.8ESR1, PTH1R, CD36, BGLAP
11pirfenidone44 5910.8IL1A, CD36, IL1B, TGFB1
12hydrocortisone44 2 59 1112.8IGF1, ALPP, BGLAP
13alizarin red s449.7TGFB1, BMP2, BGLAP
1422-oxacalcitriol449.7CD36, ALPP, VDR, BGLAP
151,25 dihydroxy vitamin d3449.6PTH, PTH1R, BGLAP, BMP2, VDR
16tamoxifen44 49 28 1112.5ALPP, TGFB1, VDR, IGF1, PTH
17pamidronate44 49 1111.5BGLAP, CD36, PTH, ALPP
18alizarin449.5BGLAP, BMP2, CD36, ALPP
19phosphorus449.5ALPP, BGLAP, VDR, PTH1R, PTH
20hydroxyapatite449.5CD36, BGLAP, ENPP1, ALPP
21risedronate44 59 49 28 1113.4ALPP, IL1B, CD36, BGLAP, ESR1
22hydroxyproline44 11 2411.3PTH, BGLAP, CD36, ALPP, TGFB1
2325-hydroxyvitamin d449.3IGF1, PTH, CD36, VDR, BGLAP, ALPP
24chitosan449.3CD36, BMP2, BGLAP, ALPP
25cyclosporin a44 28 5911.3BGLAP, BMP2, BMP4, VDR
26titanium449.2ALPP, CD36, BGLAP, BMP4, BMP2
27pyridinoline449.2IGF1, CD36, ALPP, BGLAP
28ibmx44 28 5911.2IGF1, PTH, PTH1R, IL1B, ALPP, BMP2
29glutamine449.2CRYAB, TGFB1, ENPP1, LEPR, IL1A, CD36
30dihydrotestosterone44 28 11 2412.1ESR1, VDR, IGF1, BMP2, BGLAP, TGFB1
31thyroxine44 2410.0ALPP, PTH, LEPR, TGFB1, VDR, IGF1
32ascorbic acid44 249.8IL1A, BMP2, BMP4, VDR, BGLAP, CD36
33ribonucleic acid448.8LEPR, PTH1R, IL1A, PTH, BMP4, TGFB1
34genistein44 28 59 2 11 2413.8ALPP, IL1B, ESR1, IL1A, CD36, VDR
35alendronate44 49 1110.7CD36, PTH, ESR1, ALPP, VDR, BMP2
36serine448.7IL1A, ALPP, PTH1R, LEPR, BGLAP, BMP2
37dexamethasone44 49 28 1111.7LEPR, BGLAP, PTH1R, PTH, ENPP1, ALPP
38actinomycin d448.7CRYAB, TGFB1, ESR1, IL1B, IGF1, IL1A
39progesterone44 59 28 11 2412.6IL1A, BMP2, BMP4, CRYAB, ESR1, LEPR
40creatinine448.5IL1A, VDR, IGF1, PTH, BGLAP, BMP2
41testosterone44 59 11 2411.5IGF1, IL1A, PTH, ESR1, ALPP, LEPR
42paraffin448.4CD36, CDH13, CRYAB, ESR1, TGFB1, ALPP
43arginine448.4COL11A2, BGLAP, ALPP, BMP2, PTH, LEPR
44vitamin d448.4LEPR, BMP2, BGLAP, IGF1, CD36, VDR
45sb 20358044 599.1VDR, BGLAP, TGFB1, ALPP, IL1B, IL1A
46calcitriol44 59 11 2411.1PTH1R, IL1A, TGFB1, ALPP, IL1B, CD36
47thymidine44 249.0IL1B, LEPR, PTH1R, PTH, ALPP, TGFB1
48vegf447.7ESR1, ALPP, TGFB1, IL1B, PTH, LEPR
49retinoic acid44 248.4BGLAP, BMP2, IL1B, IGF1, VDR, CD36
50calcium44 49 11 2410.2CD36, CDH13, LEPR, PTH, PTH1R, VDR

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

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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:0056157.8TGFB1, BGLAP, BMP2, BMP4, IGF1, CDH13
3extracellular regionGO:0055767.5COL11A2, COL6A1, BGLAP, BMP2, BMP4, IGF1

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:03073010.4IL1B, ENPP1
2mammary gland branching involved in pregnancyGO:06074510.4VDR, ESR1
3fever generationGO:00166010.4IL1A, IL1B
4low-density lipoprotein particle mediated signalingGO:05509610.4CD36, CDH13
5positive regulation of odontogenesisGO:04248210.3TGFB1, BMP2
6bone mineralization involved in bone maturationGO:03563010.3IGF1, BMP2
7common-partner SMAD protein phosphorylationGO:00718210.3TGFB1, BMP4
8mesenchymal cell proliferation involved in ureteric bud developmentGO:07213810.3BMP2, BMP4
9BMP signaling pathway involved in heart inductionGO:00313010.2BMP2, BMP4
10prostate epithelial cord arborization involved in prostate glandular acinus morphogenesisGO:06052710.2IGF1, ESR1
11telencephalon regionalizationGO:02197810.2BMP4, BMP2
12regulation of branching involved in prostate gland morphogenesisGO:06068710.2BMP4, ESR1
13positive regulation vascular endothelial growth factor productionGO:01057510.2IL1A, IL1B, TGFB1
14positive regulation of mitosisGO:04584010.2IGF1, IL1A, IL1B
15regulation of odontogenesis of dentin-containing toothGO:04248710.2BMP4, BMP2
16positive regulation of SMAD protein import into nucleusGO:06039110.1TGFB1, BMP4
17response to estradiol stimulusGO:03235510.1CRYAB, ESR1, TGFB1
18positive regulation of cell divisionGO:05178110.1IL1A, IL1B, TGFB1
19cellular calcium ion homeostasisGO:00687410.1TGFB1, PTH, VDR
20negative regulation of myoblast differentiationGO:04566210.1TGFB1, BMP4
21cellular response to organic cyclic compoundGO:07140710.1TGFB1, IL1B, BMP2
22inner ear developmentGO:04883910.1TGFB1, IGF1, BMP2
23positive regulation of pathway-restricted SMAD protein phosphorylationGO:01086210.0TGFB1, BMP4, BMP2
24positive regulation of epithelial cell proliferationGO:05067910.0BMP4, IGF1, TGFB1
25positive regulation of smooth muscle cell proliferationGO:04866110.0BMP4, IGF1, CDH13
26negative regulation of cell cycleGO:04578610.0TGFB1, BMP4, BMP2
27positive regulation of ossificationGO:04577810.0BMP4, BMP2
28bone mineralizationGO:03028210.0BGLAP, BMP2, PTH1R
29positive regulation of MAPK cascadeGO:04341010.0CD36, IGF1, BMP2
30platelet degranulationGO:0025769.9IGF1, CD36, TGFB1
31positive regulation of osteoblast differentiationGO:0456699.9BMP2, BMP4, IGF1
32pathway-restricted SMAD protein phosphorylationGO:0603899.9TGFB1, BMP2
33positive regulation of cartilage developmentGO:0610369.9BMP4, BMP2
34positive regulation of endothelial cell proliferationGO:0019389.9BMP2, BMP4, CDH13
35positive regulation of bone mineralizationGO:0305019.9BMP2, BMP4, PTH, TGFB1
36chondrocyte differentiationGO:0020629.9BMP2, BMP4, PTH1R, TGFB1
37response to vitamin DGO:0332809.8BGLAP, TGFB1
38agingGO:0075689.8TGFB1, PTH1R, CRYAB
39positive regulation of protein phosphorylationGO:0019349.8TGFB1, IL1B, BMP4, BMP2
40osteoblast differentiationGO:0016499.8BGLAP, BMP2, BMP4
41extracellular matrix organizationGO:0301989.7COL11A2, COL6A1, BMP2, BMP4, TGFB1
42positive regulation of interleukin-2 biosynthetic processGO:0450869.7IL1B, IL1A
43negative regulation of transcription from RNA polymerase II promoterGO:0001229.4BMP2, BMP4, VDR, CD36, PTH, TGFB1
44positive regulation of transcription, DNA-dependentGO:0458939.3BMP2, BMP4, IGF1, IL1B, TGFB1
45skeletal system developmentGO:0015019.2COL11A2, BGLAP, BMP2, IGF1, VDR, PTH1R
46negative regulation of cell proliferationGO:0082858.7TGFB1, BMP2, BMP4, IGF1, VDR, CDH13
47positive regulation of transcription from RNA polymerase II promoterGO:0459448.4BMP2, BMP4, IGF1, VDR, CDH13, IL1A

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:0080839.4TGFB1, IGF1, BMP4, BMP2
4cytokine activityGO:0051259.3BMP2, BMP4, IL1A, IL1B

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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57SNOMED-CT via Orphanet
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