PDB3
MCID: PGT007
MIFTS: 36

Paget Disease of Bone 3 (PDB3)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Paget Disease of Bone 3

MalaCards integrated aliases for Paget Disease of Bone 3:

Name: Paget Disease of Bone 3 57 75
Osteitis Deformans 75 73
Pdb3 57 75
Paget Disease of Bone, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset usually after age 40
incomplete age-dependent penetrance
axial skeleton most commonly affected


HPO:

32
paget disease of bone 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Paget Disease of Bone 3

UniProtKB/Swiss-Prot : 75 Paget disease of bone 3: A disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone.

MalaCards based summary : Paget Disease of Bone 3, also known as osteitis deformans, is related to paget's disease of bone and mammary paget's disease, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Paget Disease of Bone 3 is SQSTM1 (Sequestosome 1). Affiliated tissues include bone, spinal cord and heart, and related phenotypes are hearing impairment and bone pain

OMIM : 57 Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). (167250)

Related Diseases for Paget Disease of Bone 3

Diseases in the Paget's Disease of Bone family:

Paget Disease of Bone 3 Paget Disease of Bone 5, Juvenile-Onset
Paget Disease of Bone 2, Early-Onset Paget Disease of Bone 4
Paget Disease of Bone 6

Diseases related to Paget Disease of Bone 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 paget's disease of bone 12.5
2 mammary paget's disease 11.8
3 bone inflammation disease 11.0
4 paget disease of bone 5, juvenile-onset 10.6
5 sarcoma 10.4
6 osteogenic sarcoma 10.3
7 osteoporosis 10.2
8 angioid streaks 10.2
9 giant cell tumor 10.2
10 paraplegia 10.2
11 atrial standstill 1 10.0
12 mccune-albright syndrome 10.0
13 prostate cancer 10.0
14 rheumatoid arthritis 10.0
15 3-methylglutaconic aciduria, type iii 10.0
16 arthritis 10.0
17 bone disease 10.0
18 fibrous dysplasia 10.0
19 cholelithiasis 10.0
20 rickets 10.0
21 hypoparathyroidism 10.0
22 otosclerosis 10.0
23 iritis 10.0
24 optic nerve disease 10.0
25 enthesopathy 10.0
26 acromegaly 10.0
27 astrocytoma 10.0
28 osteitis fibrosa 10.0
29 retinitis 10.0
30 neuropathy 10.0
31 myotonic dystrophy 10.0
32 dysphagia 10.0
33 hemifacial spasm 10.0

Graphical network of the top 20 diseases related to Paget Disease of Bone 3:



Diseases related to Paget Disease of Bone 3

Symptoms & Phenotypes for Paget Disease of Bone 3

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
bone pain
increased and disorganized bone remodeling
mixed regions of osteosclerosis and osteolysis
abnormal uptake of radio-labelled bisphosphates in affected sites on bone scan
deformity or enlargement of bones
more
Laboratory Abnormalities:
increased alkaline phosphatase

Head And Neck Ears:
deafness (in some patients)


Clinical features from OMIM:

167250

Human phenotypes related to Paget Disease of Bone 3:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 occasional (7.5%) HP:0000365
2 bone pain 32 HP:0002653
3 osteolysis 32 HP:0002797
4 osteosarcoma 32 HP:0002669
5 elevated alkaline phosphatase 32 HP:0003155
6 patchy osteosclerosis 32 HP:0005686
7 fractures of the long bones 32 HP:0003084

UMLS symptoms related to Paget Disease of Bone 3:


back pain, sciatica, muscle cramp

Drugs & Therapeutics for Paget Disease of Bone 3

Search Clinical Trials , NIH Clinical Center for Paget Disease of Bone 3

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Paget Disease of Bone 3

Anatomical Context for Paget Disease of Bone 3

MalaCards organs/tissues related to Paget Disease of Bone 3:

41
Bone, Spinal Cord, Heart, Bone Marrow, Brain, Prostate, Salivary Gland

Publications for Paget Disease of Bone 3

Articles related to Paget Disease of Bone 3:

(show top 50) (show all 178)
# Title Authors Year
1
Management of craniofacial osteitis deformans. ( 25593887 )
2014
2
Effect of Paget's disease of bone (osteitis deformans) on the progression of prostate cancer bone metastasis. ( 22805323 )
2012
3
Investigation of the osteitis deformans phases in snake vertebrae by double-pulse laser-induced breakdown spectroscopy. ( 20628874 )
2010
4
Osteitis deformans (Paget's disease) in a Burmese python (Python molurus bivittatus)--a case report. ( 17222574 )
2007
5
Paget's disease of bone: osteitis deformans or osteodystrophia deformans? ( 15637095 )
2005
6
[Osteitis deformans--Paget's disease]. ( 15106891 )
2004
7
Paget's disease (osteitis deformans). ( 11887538 )
2002
8
Successful treatment of optic neuropathy in osteitis deformans. ( 12154218 )
2002
9
Paget's disease of bone (osteitis deformans). ( 9706897 )
1998
10
Osteitis deformans (Paget's disease) and calcific disease of the heart valves. ( 9645898 )
1998
11
The second case of Paget's disease (osteitis deformans) in a Chinese lady. ( 9104073 )
1996
12
Hemifacial spasm and osteitis deformans. ( 7872405 )
1995
13
Rhinological manifestations of Paget's disease of bone (Osteitis deformans). ( 2193039 )
1990
14
Radionuclide imaging in osteitis deformans. ( 2196916 )
1990
15
Dogs, distemper and osteitis deformans: a further epidemiological study. ( 2268748 )
1990
16
Paget's disease of bone. An update on the pathogenesis, pathophysiology, and treatment of osteitis deformans. ( 2654835 )
1989
17
Absence of HLA linkage in a family with osteitis deformans (Paget's disease of bone). ( 3163858 )
1988
18
Some characteristics of local scintigraphic and radiologic patterns of Paget's disease of bone (osteitis deformans). ( 3850015 )
1985
19
Low serum magnesium concentration in Paget's disease of bone (osteitis deformans). ( 4073791 )
1985
20
Diffuse mandibular enlargement caused by osteitis deformans. ( 4064974 )
1985
21
Paget's disease of bone (osteitis deformans). ( 6509254 )
1984
22
Osteitis deformans (Paget's disease) of the maxilla: report of a case. ( 6596721 )
1983
23
Oropharyngeal dysphagia in Paget's disease of bone (osteitis deformans): response to calcitonin. ( 7091132 )
1982
24
Control of osteitis deformans using glucagon, calcitonin, and mithramycin. ( 6455656 )
1981
25
Sarcomas of bone complicating osteitis deformans (Paget's disease): fifty years' experience. ( 6941703 )
1981
26
The anatomic distribution of osteitis deformans. ( 7226642 )
1981
27
The clinical relevance of radiologically revealed Paget's disease of bone (osteitis deformans). ( 466032 )
1979
28
Osteitis deformans. A case of late involvement of the maxilla. ( 383919 )
1979
29
Osteolytic-expansive type of familial Paget's disease (osteitis deformans). ( 551399 )
1979
30
Osteitis deformans. Report of a long-standing case with extensive oral involvement. ( 282541 )
1978
31
Osteitis deformans in the South African negro. A report of 3 cases. ( 653501 )
1978
32
Evaluation of sodium etidronate in the treatment of Paget's disease of bone. Osteitis deformans. ( 402246 )
1977
33
Treatment of Paget's disease of bone (osteitis deformans) with sodium etidronate (EHDP). ( 410576 )
1977
34
Paget's disease of bone (osteitis deformans) treated with human synthetic calcitonin. ( 850845 )
1977
35
Osteitis deformans of the hip joint. ( 403788 )
1977
36
Paget's osteitis deformans: a carbonate-rich calcium alkali phosphate in the pre-malignant bone mineral and implications for lymphoma production by CO2. ( 953046 )
1976
37
Radionuclide cerebral angiography in Paget's disease (osteitis deformans) of the skull. ( 1135660 )
1975
38
Radiographs and scans in diagnosing symptomatic lesions of Paget's disease of bone (osteitis deformans). ( 4426511 )
1974
39
Personal history of Paget's disease. Osteitis deformans with several unusual features and their control. ( 4153430 )
1974
40
Treatment of Paget disease of bone (osteitis deformans). Results of a one-year study with sodium etidronate. ( 4213513 )
1974
41
Osteitis deformans (Paget's disease) in a boa constrictor. ( 4492815 )
1974
42
Angioid streaks and disciform macular detachment in Pagets disease (osteitis deformans). ( 4696665 )
1973
43
Influence of disodium etidronate on clinical and laboratory manifestations of Paget's disease of bone (osteitis deformans). ( 4201876 )
1973
44
Paget's disease of bone (osteitis deformans): symptomatic lesions and bone scan. ( 4748251 )
1973
45
Osteitis deformans (Paget's disease of bone). ( 4266957 )
1973
46
Osteitis deformans of the maxilla: report of atypical case. ( 4118020 )
1973
47
Osteitis deformans. Case report. ( 4519309 )
1973
48
Osteitis deformans presenting at the Dublin Rheumatism Clinic. ( 4752427 )
1973
49
Paget's disease of bone (osteitis deformans) amongst the West Malaysians. ( 4635265 )
1972
50
Letter: Osteitis deformans in a macaque. ( 4210691 )
1972

Variations for Paget Disease of Bone 3

UniProtKB/Swiss-Prot genetic disease variations for Paget Disease of Bone 3:

75
# Symbol AA change Variation ID SNP ID
1 SQSTM1 p.Pro387Leu VAR_023592 rs776749939
2 SQSTM1 p.Pro392Leu VAR_023593 rs104893941
3 SQSTM1 p.Ser399Pro VAR_023594
4 SQSTM1 p.Met404Thr VAR_023595
5 SQSTM1 p.Met404Val VAR_023596 rs771966860
6 SQSTM1 p.Gly411Ser VAR_023597 rs143511494
7 SQSTM1 p.Gly425Arg VAR_023598 rs757212984

ClinVar genetic disease variations for Paget Disease of Bone 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SQSTM1 NM_003900.4(SQSTM1): c.1175C> T (p.Pro392Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs104893941 GRCh37 Chromosome 5, 179263445: 179263445
2 SQSTM1 NM_003900.4(SQSTM1): c.1175C> T (p.Pro392Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs104893941 GRCh38 Chromosome 5, 179836445: 179836445
3 SQSTM1 NM_003900.4(SQSTM1): c.1224dupT (p.Glu409Terfs) duplication Pathogenic rs796051869 GRCh38 Chromosome 5, 179836494: 179836494
4 SQSTM1 NM_003900.4(SQSTM1): c.1224dupT (p.Glu409Terfs) duplication Pathogenic rs796051869 GRCh37 Chromosome 5, 179263494: 179263494
5 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh38 Chromosome 5, 179833783: 179833783
6 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh37 Chromosome 5, 179260783: 179260783
7 SQSTM1 NM_003900.4(SQSTM1): c.1132A> T (p.Lys378Ter) single nucleotide variant Pathogenic rs796052213 GRCh38 Chromosome 5, 179833749: 179833749
8 SQSTM1 NM_003900.4(SQSTM1): c.1132A> T (p.Lys378Ter) single nucleotide variant Pathogenic rs796052213 GRCh37 Chromosome 5, 179260749: 179260749

Expression for Paget Disease of Bone 3

Search GEO for disease gene expression data for Paget Disease of Bone 3.

Pathways for Paget Disease of Bone 3

GO Terms for Paget Disease of Bone 3

Sources for Paget Disease of Bone 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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