MCID: PGT007
MIFTS: 28

Paget Disease of Bone 3

Categories: Genetic diseases, Bone 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, muscle cramp and sciatica. An important gene associated with Paget Disease of Bone 3 is SQSTM1 (Sequestosome 1). Affiliated tissues include bone and prostate, 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 related to Paget Disease of Bone 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 paget's disease of bone 12.3
2 mammary paget's disease 11.5
3 paget disease of bone 5, juvenile-onset 10.5
4 angioid streaks 10.1
5 osteoporosis 9.9
6 prostate cancer 9.9
7 iritis 9.9
8 prostatitis 9.9
9 osteitis fibrosa 9.9
10 retinitis 9.9
11 hemifacial spasm 9.9

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
Head And Neck Ears:
deafness (in some patients)

Laboratory Abnormalities:
increased alkaline phosphatase

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

Clinical features from OMIM:

167250

Human phenotypes related to Paget Disease of Bone 3:

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

UMLS symptoms related to Paget Disease of Bone 3:


back pain, muscle cramp, sciatica

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, Prostate

Publications for Paget Disease of Bone 3

Articles related to Paget Disease of Bone 3:

(show all 11)
# Title Authors Year
1
Effect of Paget's disease of bone (osteitis deformans) on the progression of prostate cancer bone metastasis. ( 22805323 )
2012
2
Paget's disease of bone: osteitis deformans or osteodystrophia deformans? ( 15637095 )
2005
3
[Osteitis deformans--Paget's disease]. ( 15106891 )
2004
4
Paget's disease of bone (osteitis deformans). ( 9706897 )
1998
5
Hemifacial spasm and osteitis deformans. ( 7872405 )
1995
6
Absence of HLA linkage in a family with osteitis deformans (Paget's disease of bone). ( 3163858 )
1988
7
Angioid streaks and disciform macular detachment in Pagets disease (osteitis deformans). ( 4696665 )
1973
8
Treatment of osteoporosis, osteosclerosis and osteitis deformans with fluorides. ( 5245552 )
1968
9
Osteitis Fibrosa of Left Upper Jaw Involving Base of Skull. Osteitis Deformans of Spine. ( 19992022 )
1939
10
Angioid Streaks and Osteitis Deformans. ( 16693027 )
1934
11
Osteitis Deformans with Central Senile Exudative Retinitis. Iritis. ( 19986793 )
1929

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.1224dupT (p.Glu409Terfs) duplication Pathogenic rs796051869 GRCh38 Chromosome 5, 179836494: 179836494
2 SQSTM1 NM_003900.4(SQSTM1): c.1224dupT (p.Glu409Terfs) duplication Pathogenic rs796051869 GRCh37 Chromosome 5, 179263494: 179263494
3 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh38 Chromosome 5, 179833783: 179833783
4 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh37 Chromosome 5, 179260783: 179260783
5 SQSTM1 NM_003900.4(SQSTM1): c.1132A> T (p.Lys378Ter) single nucleotide variant Pathogenic rs796052213 GRCh38 Chromosome 5, 179833749: 179833749
6 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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