MCID: OSS014
MIFTS: 40

Ossification of the Posterior Longitudinal Ligament of Spine

Categories: Rare diseases, Genetic diseases, Muscle 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 alveolar periostitis and hypophosphatasia, adult. 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 Degradation of the extracellular matrix. Affiliated tissues include spinal cord and bone, and related phenotypes are diabetes mellitus and abnormality of the vertebral column

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

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
Skeletal:
increased bone mineral density

Neurologic Central Nervous System:
spinal cord compression
myelopathy
hyperreflexia

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


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 abnormality of the vertebral column 32 HP:0000925
3 hyperreflexia 32 HP:0001347
4 spinal cord compression 32 HP:0002176
5 myelopathy 32 HP:0002196
6 increased bone mineral density 32 HP:0011001

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 10.06 COL11A2 CREB3L1 ENPP1 NOBOX RUNX2 UBE3C
2 homeostasis/metabolism MP:0005376 9.85 RUNX2 UBE3C ACVR1 ADAMTS1 AVPR2 BMP2
3 hearing/vestibular/ear MP:0005377 9.73 ACVR1 BMP2 BMP4 COL11A2 ENPP1 UBE3C
4 limbs/digits/tail MP:0005371 9.35 ACVR1 BMP2 BMP4 RUNX2 UBE3C
5 skeleton MP:0005390 9.23 ACVR1 BMP2 BMP4 COL11A2 CREB3L1 ENPP1

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 COL6A1 ENPP1

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:

# Title Authors Year
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

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.68 ADAMTS1 BMP2 BMP4 COL11A2 COL6A1
2 11.66 BMP2 BMP4 UBE3C
3 11.46 BGLAP CREB3L1 RUNX2
4 11.26 ACVR1 BMP2 BMP4
5 10.94 ADAMTS1 ENPP1 RUNX2
6 10.77 BMP2 BMP4
7 10.66 BMP2 BMP4

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 region GO:0005576 9.5 ADAMTS1 BGLAP BMP2 BMP4 COL11A2 COL6A1
2 endoplasmic reticulum lumen GO:0005788 8.92 BGLAP BMP4 COL11A2 COL6A1

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.94 AVPR2 BMP2 BMP4 RUNX2
2 cartilage development GO:0051216 9.75 BMP2 BMP4 COL11A2
3 BMP signaling pathway GO:0030509 9.73 ACVR1 BMP2 BMP4 RUNX2
4 odontogenesis of dentin-containing tooth GO:0042475 9.72 BMP2 BMP4 RUNX2
5 skeletal system development GO:0001501 9.72 BGLAP BMP2 BMP4 COL11A2 RUNX2
6 cellular response to growth factor stimulus GO:0071363 9.71 BGLAP BMP2 BMP4
7 ossification GO:0001503 9.71 BGLAP BMP2 BMP4 RUNX2
8 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.7 ACVR1 BMP2 BMP4
9 bone mineralization GO:0030282 9.68 BGLAP BMP2
10 mesoderm formation GO:0001707 9.68 ACVR1 BMP4
11 odontogenesis GO:0042476 9.67 BGLAP BMP4
12 biomineral tissue development GO:0031214 9.67 BGLAP ENPP1
13 embryonic cranial skeleton morphogenesis GO:0048701 9.67 BMP4 RUNX2
14 positive regulation of bone mineralization GO:0030501 9.67 ACVR1 BMP2 BMP4
15 positive regulation of osteoblast differentiation GO:0045669 9.67 ACVR1 BMP2 BMP4 RUNX2
16 cardiac muscle cell differentiation GO:0055007 9.66 BMP2 BMP4
17 endochondral ossification GO:0001958 9.66 BMP4 RUNX2
18 outflow tract septum morphogenesis GO:0003148 9.65 ACVR1 BMP4
19 positive regulation of collagen biosynthetic process GO:0032967 9.65 BMP4 CREB3L1
20 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.65 BMP2 BMP4
21 regulation of bone mineralization GO:0030500 9.64 BGLAP ENPP1
22 osteoblast development GO:0002076 9.63 BGLAP RUNX2
23 endocardial cushion morphogenesis GO:0003203 9.63 ACVR1 BMP2
24 telencephalon development GO:0021537 9.63 AVPR2 BMP2 BMP4
25 positive regulation of cartilage development GO:0061036 9.62 BMP2 BMP4
26 positive regulation of ossification GO:0045778 9.62 BMP2 BMP4
27 regulation of ossification GO:0030278 9.61 ACVR1 RUNX2
28 smooth muscle cell differentiation GO:0051145 9.61 ACVR1 BMP4
29 pathway-restricted SMAD protein phosphorylation GO:0060389 9.6 ACVR1 BMP2
30 atrioventricular valve morphogenesis GO:0003181 9.59 ACVR1 BMP2
31 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.58 BMP2 RUNX2
32 telencephalon regionalization GO:0021978 9.57 BMP2 BMP4
33 BMP signaling pathway involved in heart development GO:0061312 9.56 ACVR1 BMP4
34 chondrocyte differentiation GO:0002062 9.56 BMP2 BMP4 COL11A2 RUNX2
35 mesenchymal cell proliferation involved in ureteric bud development GO:0072138 9.51 BMP2 BMP4
36 BMP signaling pathway involved in heart induction GO:0003130 9.48 BMP2 BMP4
37 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.33 BMP2 BMP4 RUNX2
38 cellular response to BMP stimulus GO:0071773 9.26 ACVR1 BMP2 BMP4 RUNX2
39 osteoblast differentiation GO:0001649 9.17 BGLAP BMP2 BMP4 COL11A2 COL6A1 CREB3L1

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 co-receptor binding GO:0039706 9.16 BMP2 BMP4
2 BMP receptor binding GO:0070700 8.96 BMP2 BMP4
3 SMAD binding GO:0046332 8.8 ACVR1 BMP2 CREB3L1

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
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