MCID: OSS010
MIFTS: 42

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 45 49 67 24
Opll 45 67
 
Ossification of the Posterior Longitudinal Ligament of Spine 65

Characteristics:

HPO:

61
ossification of the posterior longitudinal ligament of the spine:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

MedGen34 C1865343
MeSH36 D017887
OMIM49 602475
UMLS65 C1865343

Summaries for Ossification of the Posterior Longitudinal Ligament of the Spine

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NIH Rare Diseases:45 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 lung cancer and hepatitis, and has symptoms including increased bone mineral density, myelopathy and spinal cord compression. 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 Nuclear Receptor transcription pathway and Endocrine and other factor-regulated calcium reabsorption. Affiliated tissues include spinal cord, bone and thalamus, and related mouse phenotypes are muscle and hearing/vestibular/ear.

OMIM:49 Ossification of the posterior longitudinal ligament of the spine (OPLL) can cause spinal-cord compression (Ono et al.,... (602475) more...

UniProtKB/Swiss-Prot:67 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 top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1lung cancer10.7
2hepatitis10.6
3heart disease10.6
4congenital heart disease10.6
5schizophrenia10.4
6prostate cancer10.4
7chondromalacia patellae10.4
8crohn's disease10.4
9myeloma10.4
10malignant hypertension10.4
11trachoma10.4
12choroiditis10.4
13cortical blindness10.4
14optic neuritis10.4
15paranoid schizophrenia10.4
16nephrocalcinosis10.4
17dementia10.4
18hepatic encephalopathy10.4
19urethritis10.4
20urethral syndrome10.4
21patellofemoral pain syndrome10.4
22prostatitis10.4
23neuritis10.4
24hepatitis c10.4
25enthesopathy10.4
26chondromalacia10.4
27epidermolysis bullosa10.4
28adenocarcinoma10.4
29proctitis10.4
30retinitis10.4
31pericardial mesothelioma10.4
32herpes zoster10.4
33duodenitis10.4
34acute mountain sickness10.4
35duodenal atresia10.4
36synovial chondromatosis10.4
37encephalopathy10.4
38postherpetic neuralgia10.4
39adrenomyeloneuropathy10.1ESR1, VDR
40pseudopseudohypoparathyroidism10.0BMP2, ENPP1
41syngnathia cleft palate10.0BMP2, ESR1
42vaginal disease10.0BMP2, ESR1
43anterior cruciate ligament tears9.9ESR1, VDR
44proliferative type fibrocystic change of breast9.9COL6A1, VDR
45dengue disease9.8BMP2, VDR
46polyradiculoneuropathy9.8BMP2, COL6A1
47pancreatic steatorrhea9.8ENPP1, VDR
48polyradiculopathy9.7BMP2, COL6A1
49ischemic bone disease9.7BMP2, COL6A1
50chromosomal disease9.7BMP2, ESR1, 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 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 increased bone mineral density HP:0011001
2 myelopathy HP:0002196
3 spinal cord compression HP:0002176
4 hyperreflexia HP:0001347
5 abnormality of the vertebral column HP:0000925
6 diabetes mellitus HP:0000819

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

Search NIH Clinical Center 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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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:

33
Spinal cord, Bone, Thalamus, Colon, Neutrophil

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.3COL6A1, ENPP1, ESR1, VDR
2MP:00053778.2BMP2, COL11A2, ENPP1, VDR
3MP:00053907.9BMP2, COL11A2, ENPP1, ESR1, VDR
4MP:00053787.8BMP2, COL11A2, ENPP1, ESR1, 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 41)
idTitleAuthorsYear
1
Body Mass Index and Risk of Gallbladder Cancer: Systematic Review and Meta-Analysis of Observational Studies. (26426043)
2015
2
TAp63 suppress metastasis via miR-133b in colon cancer cells. (24594999)
2014
3
Hb Ullevaal [I^78(EF2)Leua89Val; HBB: c.235C>G], a new hemoglobin variant interfering with Hb A1c measurement using a cation exchange high performance liquid chromatography method. (24274186)
2014
4
Matrix Gla protein and osteocalcin: from gene duplication to neofunctionalization. (25068814)
2014
5
Aortic aneurysm in three siblings with multiple congenital contractures. (24977674)
2014
6
Validity of criteria for dementia in older people with intellectual disability. (23395195)
2013
7
Family history of aortic disease predicts disease patterns and progression and is a significant influence on management strategies for patients and their relatives. (23809203)
2013
8
The use of typing methods and infection prevention measures to control a bullous impetigo outbreak on a neonatal ward. (23168170)
2012
9
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. (22815844)
2012
10
Extensive systemic sarcoidosis with testicular involvement mimicking metastatic testicular cancer. (21556220)
2011
11
Location of inhibitor binding sites in the human inducible prostaglandin E synthase, MPGES1. (21805999)
2011
12
Adherence to Plasmodium vivax malaria treatment in the Brazilian Amazon Region. (22165853)
2011
13
Bronchiectasis in infants and preschool children diagnosed with cystic fibrosis after newborn screening. (19616787)
2009
14
Anterior segment optical coherence tomography findings of acute angle-closure glaucoma in Vogt-Koyanagi-Harada disease. (18661276)
2008
15
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. (18523010)
2008
16
Mitochondrial dysfunction enhances susceptibility to oxidative stress by down-regulation of thioredoxin in human neuroblastoma cells. (17616813)
2008
17
Pretherapeutic staging of recurrent laryngeal carcinoma: clinical findings and imaging studies compared with histopathology. (17765781)
2007
18
Expression of nuclear transcription factor kappaB in childhood acute lymphoblastic leukemia and its significance]. (17708800)
2007
19
No implication of brain-derived neurotrophic factor (BDNF) gene in unipolar affective disorder: evidence from Belgian first and replication patient-control studies. (16139165)
2005
20
Concentrations of VEGF and VEGFR1 in paired tumor arteries and veins in patients with rectal cancer. (15667002)
2004
21
Interactions of GGA3 with the ubiquitin sorting machinery. (15039775)
2004
22
Bone mass regulation by leptin: a hypothalamic control of bone formation]. (15063934)
2004
23
Expression of glucocorticoid receptors and cyclooxygenase-2 in nasal polyps from nonallergic patients. (11800371)
2002
24
Europium-labeled epidermal growth factor and neurotensin: novel probes for receptor-binding studies. (11811969)
2002
25
Association analysis of polymorphic CGG repeat in 5' UTR of the reelin and VLDLR genes with schizophrenia. (12363388)
2002
26
Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity. (12198547)
2002
27
Silencing of phosphoethanolamine N-methyltransferase results in temperature-sensitive male sterility and salt hypersensitivity in Arabidopsis. (12215503)
2002
28
In vitro and in vivo inhibition of epidermal growth factor receptor-tyrosine kinase pathway by photodynamic therapy. (11402326)
2001
29
Drug-induced psychotic symptoms in Parkinson's disease. Problems, management and dilemma. (11697685)
2001
30
PPARdelta is an APC-regulated target of nonsteroidal anti-inflammatory drugs. (10555149)
1999
31
Adrenergic innervation of the monkey thalamus: an immunohistochemical study. (9579788)
1998
32
(-)-Deprenyl protection of 1-methyl-4 phenylpyridium ion (MPP+)-induced apoptosis independent of MAO-B inhibition. (9131670)
1997
33
Phosphotransfer reactions as a means of G protein activation. (8739229)
1996
34
Principles of chaperone-assisted protein folding: differences between in vitro and in vivo mechanisms. (8633246)
1996
35
Crystal structure of the tetramerization domain of the p53 tumor suppressor at 1.7 angstroms. (7878469)
1995
36
Insulin and counterregulatory hormones influence acute-phase protein production in human hepatocytes. (7544533)
1995
37
Gliosarcoma with features of chondroblastic osteosarcoma. (8334639)
1993
38
Myocardial infarction after FEIBA therapy in a hemophilia-B patient with a factor IX inhibitor. (1637888)
1992
39
Human neutrophils produce free radicals from the cell-zymosan interface during phagocytosis and from the whole plasma membrane when stimulated with calcium ionophore A23187. (1849827)
1991
40
Intramuscular (subfascial) vascular spindle cell lipoma. A case report. (2284703)
1990
41
Local Penicillin for Ophthalmia Neonatorum. (20786146)
1945

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:

67
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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Pathways related to Ossification of the Posterior Longitudinal Ligament of the Spine according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4ESR1, VDR
29.4ESR1, VDR
39.4ESR1, VDR
49.2COL11A2, COL6A1
5
Show member pathways
8.6BMP2, COL11A2, COL6A1

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 7)
idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:00020629.9BMP2, COL11A2
2organ morphogenesisGO:00098879.7BMP2, VDR
3positive regulation of ERK1 and ERK2 cascadeGO:00703749.7BMP2, ESR1
4extracellular matrix organizationGO:00301989.4BMP2, COL11A2
5extracellular matrix disassemblyGO:00226179.1COL11A2, COL6A1
6negative regulation of transcription from RNA polymerase II promoterGO:00001228.9BMP2, ESR1, VDR
7positive regulation of transcription from RNA polymerase II promoterGO:00459448.8BMP2, ESR1, VDR

Sources for Ossification of the Posterior Longitudinal Ligament of the Spine

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet