PAGET DISEASE OF BONE 1

General Information (adopted from Orphanet):

Synonyms, Signs: PDB1
Number of Symptoms 10
OrphanetNr:
OMIM Id: 167250
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:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
2
 (HPO:0002669) Osteosarcoma 12 / 7739
3
 (HPO:0002653) Bone pain 75 / 7739
4
 (HPO:0003084) Fractures of the long bones 5 / 7739
5
 (HPO:0005686) Patchy osteosclerosis 3 / 7739
6
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
7
 (OMIM) Giant cell tumor 1 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (OMIM) Nuclear and cytoplasmic tubular filamentous inclusions in osteoclasts 1 / 7739
10
 (OMIM) Paget disease of bone 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: