LUMBAR STENOSIS, FAMILIAL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 2
OrphanetNr:
OMIM Id: 152550
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004610) Lumbar spinal canal stenosis 1 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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. ...