OPLL
MCID: OSS014
MIFTS: 45

Ossification of the Posterior Longitudinal Ligament of Spine (OPLL)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

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

MalaCards integrated aliases for Ossification of the Posterior Longitudinal Ligament of Spine:

Name: Ossification of the Posterior Longitudinal Ligament of Spine 57 12 37 15 73
Opll 57 12 53 75
Ossification of the Posterior Longitudinal Ligament of the Spine 53 75 29
Ossification of Posterior Longitudinal Ligament of Spine 13
Ossification, Posterior Longitudinal Ligament Spine 40
Ossification of Posterior Longitudinal Ligament 44

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
common in japan and other asian populations
four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%)
high incidence of diabetes mellitus noted in opll patients


HPO:

32
ossification of the posterior longitudinal ligament of spine:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 602475
Disease Ontology 12 DOID:0060887
MedGen 42 C1865343
MeSH 44 D017887
KEGG 37 H00431
UMLS 73 C1865343

Summaries for Ossification of the Posterior Longitudinal Ligament of Spine

NIH Rare Diseases : 53 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.

MalaCards based summary : Ossification of the Posterior Longitudinal Ligament of Spine, also known as opll, is related to hypophosphatemic rickets, x-linked recessive and rickets. An important gene associated with Ossification of the Posterior Longitudinal Ligament of Spine is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1), and among its related pathways/superpathways are TGF-beta signaling pathway and Endochondral Ossification. Affiliated tissues include spinal cord and bone, and related phenotypes are diabetes mellitus and hyperreflexia

Disease Ontology : 12 A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia.

OMIM : 57 Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common degenerative spinal disorder that causes severe neurologic dysfunction in middle-aged and elderly populations. This ectopic ossification results in compression of the spinal cord and nerve root by the ossified ligament. Histologic studies of OPLL suggest that OPLL develops through a process of endochondral ossification (summary by Nakajima et al., 2016). (602475)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Ossification of the posterior longitudinal ligament (OPLL) is a process of fibrosis, calcification, and... more...

Related Diseases for Ossification of the Posterior Longitudinal Ligament of Spine

Diseases related to Ossification of the Posterior Longitudinal Ligament of Spine via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets, x-linked recessive 10.2
2 rickets 10.2
3 insulin-like growth factor i 10.2
4 body mass index quantitative trait locus 1 10.2
5 diabetes mellitus 10.2
6 diffuse idiopathic skeletal hyperostosis 10.2
7 bone fracture 10.1 BGLAP BMP2
8 hypophosphatasia, adult 10.1 BGLAP ENPP1
9 hypophosphatasia 10.1 ENPP1 RUNX2
10 fibrochondrogenesis 10.1 BMP2 COL11A2
11 alveolar periostitis 10.1 BGLAP RUNX2
12 chronic inflammatory demyelinating polyneuropathy 10.1
13 polyneuropathy 10.1
14 enthesopathy 10.1
15 demyelinating polyneuropathy 10.1
16 paraplegia 10.1
17 atlantoaxial subluxation 10.1
18 synovial chondromatosis 10.0 BMP2 RUNX2
19 osteofibrous dysplasia 10.0 BGLAP BMP2
20 hypophosphatemia 10.0 BGLAP ENPP1
21 spondyloarthropathy 1 10.0
22 spinal cord injury 10.0
23 quadriplegia 10.0
24 hyperostosis 10.0
25 spondylosis 10.0
26 spondylitis 10.0
27 cleidocranial dysplasia 10.0 BGLAP RUNX2
28 glucocorticoid-induced osteoporosis 10.0 BGLAP BMP2 RUNX2
29 ischemic bone disease 10.0 BGLAP BMP2 RUNX2
30 ankylosis 9.9 BGLAP BMP2 RUNX2
31 bone resorption disease 9.9 BGLAP BMP2 RUNX2
32 bone remodeling disease 9.9 BGLAP BMP2 RUNX2
33 osteonecrosis 9.9 BGLAP BMP2 RUNX2
34 polyradiculopathy 9.9 AVPR2 BMP2
35 saethre-chotzen syndrome 9.9 BGLAP RUNX2
36 impaired renal function disease 9.9 AVPR2 BGLAP
37 aortic valve disease 2 9.9 BMP2 RUNX2
38 osseous heteroplasia, progressive 9.8 BGLAP BMP2 ENPP1 RUNX2

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
spinal cord compression
myelopathy

Skeletal Spine:
ectopic ossification of posterior longitudinal spinal ligament (cervical and thoracic spine)

Skeletal:
increased bone mineral density


Clinical features from OMIM:

602475

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 hyperreflexia 32 HP:0001347
3 increased bone mineral density 32 HP:0011001
4 abnormality of the vertebral column 32 HP:0000925
5 spinal cord compression 32 HP:0002176
6 myelopathy 32 HP:0002196

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.5 AVPR2 BMP2 COL11A2 ENPP1 NOBOX RUNX2
2 hearing/vestibular/ear MP:0005377 8.92 BMP2 COL11A2 ENPP1 UBE3C

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

Search Clinical Trials , 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

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

# Genetic test Affiliating Genes
1 Ossification of the Posterior Longitudinal Ligament of the Spine 29

Anatomical Context for Ossification of the Posterior Longitudinal Ligament of Spine

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

41
Spinal Cord, Bone

Publications for Ossification of the Posterior Longitudinal Ligament of Spine

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

(show all 40)
# Title Authors Year
1
Risk Factors of Cage Subsidence in Patients with Ossification of Posterior Longitudinal Ligament (OPLL) After Anterior Cervical Discectomy and Fusion. ( 29986343 )
2018
2
Hybrid assistive limb (HAL) treatment for patients with severe thoracic myelopathy due to ossification of the posterior longitudinal ligament (OPLL) in the postoperative acute/subacute phase: A clinical trial. ( 30335588 )
2018
3
Correlation of blood bone turnover biomarkers and Wnt signaling antagonists with AS, DISH, OPLL, and OYL. ( 28153008 )
2017
4
The cutoff value of ossification of posterior longitudinal ligament (OPLL) for early diagnosis of myelopathy using somatosensory evoked potential in cervical OPLL patients. ( 28220819 )
2017
5
Serum biomarkers in patients with ossification of the posterior longitudinal ligament (OPLL): Inflammation in OPLL. ( 28467440 )
2017
6
Open-door Laminoplasty for Multilevel Cervical Spondylotic Myelopathy and Ossification of the Posterior Longitudinal Ligament (OPLL) using Titanium Reconstruction Miniplate and Screws. ( 28919610 )
2017
7
A Modified Laminoplasty Technique to Treat Cervical Myelopathy Secondary to Ossification of the Posterior Longitudinal Ligament (OPLL). ( 29016554 )
2017
8
Down-conversion RF/photonic link with a monolithically integrated ACP-OPLL phase demodulator. ( 29041464 )
2017
9
Prognostic factors for surgical outcome in spinal cord injury associated with ossification of the posterior longitudinal ligament (OPLL). ( 26065682 )
2015
10
Gradual spinal cord decompression through migration of floated plaques after anterior decompression via a posterolateral approach for OPLL in the thoracic spine. ( 26140403 )
2015
11
Analysis of progression of cervical OPLL using computerized tomography: typical sign of maturation of OPLL mass. ( 26186351 )
2015
12
Usefulness of 3-dimensional Measurement of Ossification of the Posterior Longitudinal Ligament (OPLL) in Patients With OPLL-induced Myelopathy. ( 26208225 )
2015
13
Clinics in diagnostic imaging (161). Cervical OPLL with cord compression. ( 26243973 )
2015
14
Is OPLL-induced canal stenosis a risk factor of cord injury in cervical trauma? ( 26280731 )
2014
15
Influence of spinous process spacers on surgical outcome of laminoplasty for OPLL. ( 23590792 )
2013
16
Diagnosis of Cervical OPLL in Lateral Radiograph and MRI: Is it Reliable? ( 25983816 )
2012
17
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
18
Etiology of cervical myelopathy induced by ossification of the posterior longitudinal ligament: determining the responsible level of OPLL myelopathy by correlating static compression and dynamic factors. ( 20051916 )
2010
19
Late Occurrence of Cervicothoracic Ossification of Posterior Longitudinal Ligaments in a Surgically Treated Thoracic OPLL Patient. ( 20157380 )
2010
20
Inter- and intra-observer variability of a cervical OPLL classification using reconstructed CT images. ( 20190995 )
2010
21
Video-assisted thoracoscopic removal of ossified posterior longitudinal ligament (OPLL) in the thoracic spine: a case report. ( 20809456 )
2010
22
Treatment of cervical OPLL by cervical anterior fusion using autologous vertebral bone grafts. ( 19657579 )
2009
23
Clinical results of ossification of the posterior longitudinal ligament (OPLL) of the thoracic spine treated by anterior decompression. ( 18391716 )
2008
24
Treatment of myelopathy due to cervicothoracic OPLL via open door laminoplasty. ( 17607097 )
2007
25
False negative in spinal cord monitoring using spinal cord-evoked potentials following spinal cord stimulation during surgery for thoracic OPLL and OLF. ( 16760790 )
2006
26
Surgical outcome of ossification of the posterior longitudinal ligament (OPLL) of the thoracic spine: implication of the type of ossification and surgical options. ( 16306836 )
2005
27
Bath ankylosing spondylitis functional index (BASFI) evaluation of postoperative patients with OPLL. ( 14767700 )
2004
28
Dietary habits and risk of ossification of the posterior longitudinal ligaments of the spine (OPLL); findings from a case-control study in Japan. ( 15490273 )
2004
29
Familial ossification of the posterior longitudinal ligament (OPLL) in the thoracic spine: case report. ( 12517621 )
2002
30
Sagittal splitting laminoplasty for spinal canal enlargement for ossification of the spinal ligaments (OPLL and OLF). ( 11500167 )
2001
31
Are DISH and OPLL genetically related? ( 11534511 )
2001
32
Extensive cervical laminoplasty for patients with long segment OPLL in the cervical spine: an alternative to the anterior approach. ( 10833619 )
2000
33
Paravertebral ligamentous ossification: DISH, OPLL and OLF. ( 9717635 )
1998
34
Expansive laminoplasty for multilevel cervical OPLL. ( 9278913 )
1997
35
Influence of minor trauma to the neck on the neurological outcome in patients with ossification of the posterior longitudinal ligament (OPLL) of the cervical spine. ( 7644259 )
1995
36
Severe cervical stenosis due to ossification of the posterior longitudinal ligament without neurological manifestations ("silent OPLL"). ( 2494128 )
1989
37
Postoperative instability of cervical OPLL and cervical radiculomyelopathy. ( 2557677 )
1989
38
Electrophysiologic diagnosis of cervical OPLL myelopathy using evoked spinal cord potentials. ( 3144756 )
1988
39
Case report 384: Paraparesis from cauda equina compression due to disc herniation of L4-L5, in a patient with ossification of the posterior longitudinal ligament (OPLL) at L4-L5 and C4-C5. ( 3094160 )
1986
40
Pathological studies on the ossification of the posterior longitudinal ligament (opll). ( 6770578 )
1980

Variations for Ossification of the Posterior Longitudinal Ligament of Spine

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

75
# Symbol AA change Variation ID SNP ID
1 ENPP1 p.Leu91Pro VAR_014141
2 ENPP1 p.Ser287Phe VAR_014143 rs190947144

Expression for Ossification of the Posterior Longitudinal Ligament of Spine

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

Pathways for Ossification of the Posterior Longitudinal Ligament of Spine

Pathways related to Ossification of the Posterior Longitudinal Ligament of Spine according to KEGG:

37
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

GO Terms for Ossification of the Posterior Longitudinal Ligament of Spine

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.35 BGLAP BMP2 COL11A2 COL6A1 ENPP1
2 endoplasmic reticulum lumen GO:0005788 8.8 BGLAP COL11A2 COL6A1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 response to mechanical stimulus GO:0009612 9.57 BGLAP ENPP1
2 positive regulation of osteoblast differentiation GO:0045669 9.56 BMP2 RUNX2
3 cellular response to growth factor stimulus GO:0071363 9.55 BGLAP BMP2
4 odontogenesis of dentin-containing tooth GO:0042475 9.54 BMP2 RUNX2
5 ossification GO:0001503 9.54 BGLAP BMP2 RUNX2
6 skeletal system morphogenesis GO:0048705 9.52 COL11A2 RUNX2
7 bone mineralization GO:0030282 9.51 BGLAP BMP2
8 biomineral tissue development GO:0031214 9.49 BGLAP ENPP1
9 cellular response to BMP stimulus GO:0071773 9.48 BMP2 RUNX2
10 telencephalon development GO:0021537 9.46 AVPR2 BMP2
11 regulation of bone mineralization GO:0030500 9.43 BGLAP ENPP1
12 osteoblast development GO:0002076 9.4 BGLAP RUNX2
13 chondrocyte differentiation GO:0002062 9.33 BMP2 COL11A2 RUNX2
14 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.32 BMP2 RUNX2
15 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.26 BMP2 RUNX2
16 skeletal system development GO:0001501 9.26 BGLAP BMP2 COL11A2 RUNX2
17 osteoblast differentiation GO:0001649 9.02 BGLAP BMP2 COL11A2 COL6A1 RUNX2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL11A2 COL6A1

Sources for Ossification of the Posterior Longitudinal Ligament of Spine

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....