LUMBAR STENOSIS, FAMILIAL
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 2 |
OrphanetNr: | |
OMIM Id: |
152550
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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 dominant 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:0004610) | Lumbar spinal canal stenosis | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Verbiest (1973) reported lumbar stenosis in 2 brothers, aged 43 and 47 years. One had relative stenosis at L4 and absolute stenosis at L5; the other had relative stenosis at L4. Verbiest (1976) also reported 2 affected sisters. ... |