PAGET DISEASE OF BONE

General Information (adopted from Orphanet):

Synonyms, Signs: PDB
Number of Symptoms 23
OrphanetNr:
OMIM Id: 602080
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003080) Hydroxyprolinuria 7 / 7739
2
(HPO:0008513) Bilateral conductive hearing impairment 40% [HPO:probinson] 11 / 7739
3
(HPO:0002273) Tetraparesis 15 / 7739
4
(HPO:0002385) Paraparesis 12 / 7739
5
(HPO:0006824) Cranial nerve paralysis 81 / 7739
6
(HPO:0002659) Increased susceptibility to fractures 110 / 7739
7
(HPO:0002797) Osteolysis 68 / 7739
8
(HPO:0003084) Fractures of the long bones 5 / 7739
9
(HPO:0002953) Vertebral compression fractures 14 / 7739
10
(HPO:0002653) Bone pain 75 / 7739
11
(HPO:0002758) Osteoarthritis 78 / 7739
12
(HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
13
(HPO:0003155) Elevated alkaline phosphatase 52 / 7739
14
(OMIM) Deafness in 30-50% of patients with skull involvement 1 / 7739
15
(OMIM) Deformity or enlargement of bones 1 / 7739
16
(OMIM) Percentage of bone-derived alkaline phosphatase is >60% in patients versus 40% in healthy adult subjects 1 / 7739
17
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
(OMIM) Most commonly affected site 1 / 7739
19
(OMIM) Mixed regions of osteosclerosis and osteolysis 1 / 7739
20
(HPO:0002423) Long-tract signs 7 / 7739
21
(HPO:0002512) Brain stem compression 2 / 7739
22
(OMIM) Abnormal uptake of radio-labelled bisphosphates in affected sites on bone scan 1 / 7739
23
(HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting 1 or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone ...
Clinical Description OMIM Paget disease of bone usually occurs in persons over the age of 40 years (Klein and Norman, 1995) and mainly affects the axial skeleton. Approximately 5% of patients present symptoms requiring treatment, the most frequent complaints being bone ...
Molecular genetics OMIM In 4 families with Paget disease of bone and possible linkage to 18q, Hughes et al. (2000) performed mutation screening and in one of them found a duplication involving bases 75-101 in exon 1 of the TNFRSF11A gene ...