OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
General Information (adopted from Orphanet):
Synonyms, Signs: |
OPLL |
Number of Symptoms | 8 |
OrphanetNr: | |
OMIM Id: |
602475
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0000819) | Diabetes mellitus | 131 / 7739 | ||||
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(HPO:0011001) | Increased bone mineral density | 78 / 7739 | ||||
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(HPO:0000925) | Abnormality of the vertebral column | 20 / 7739 | ||||
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(OMIM) | Ectopic ossification of posterior longitudinal spinal ligament (cervical and thoracic spine) | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0002176) | Spinal cord compression | 15 / 7739 | ||||
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(HPO:0002196) | Myelopathy | 6 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Ossification of the posterior longitudinal ligament of the spine (OPLL) can cause spinal-cord compression (Ono et al., 1977; Tsuyama, 1984). Patients with OPLL frequently present with a severe myelopathy that can lead to tetraparesis. X-ray examination detects OPLL ... |
Population genetics OMIM | Koga et al. (1998) stated that OPLL is recognized as a common disorder among Japanese and throughout Asia. Estimates of its prevalence are in the range of 1.9 to 4.3%. |