MCID: PGT005
MIFTS: 65

Paget Disease of Bone malady

Genetic diseases, Rare diseases, Bone diseases categories

Summaries for Paget Disease of Bone

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MedlinePlus:32 Paget's disease of bone causes your bones to grow too large and weak. they also might break easily. the disease can lead to other health problems, too, such as arthritis and hearing loss. you can have paget's disease in any bone, but it is most common in the spine, pelvis, skull, and legs. the disease might affect one or several bones, but not your entire skeleton. more men than women have the disease. it is most common in older people. no one knows what causes paget's disease. in some cases, a virus might be responsible. it tends to run in families. many people do not know they have paget's disease because their symptoms are mild. for others, symptoms can include pain enlarged bones broken bones damaged cartilage in joints doctors use blood tests and imaging tests to diagnose paget's disease. early diagnosis and treatment can prevent some symptoms from getting worse. treatments include medicines and sometimes surgery. a good diet and exercise might also help. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary: Paget Disease of Bone, also known as osteitis deformans, is related to paget disease, juvenile and mammary paget's disease, and has symptoms including bilateral conductive hearing impairment, autosomal dominant inheritance and heterogeneous. An important gene associated with Paget Disease of Bone is SQSTM1 (sequestosome 1), and among its related pathways are Fanconi anemia pathway and Monoamine Transport. The drugs calcitonin and salmon calcitonin and the compounds denosumab and strontium ranelate have been mentioned in the context of this disorder. Affiliated tissues include skull, pelvis and vertebral column, and related mouse phenotypes are integument and immune system.

Disease Ontology:9 A bone formation disease that has material basis in hyperactive osteoclast which results in abnormal osteoblast bone formation located in skull, located in pelvis, located in vertebral column, located in set of limbs.

NIH Rare Diseases:41 Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. this condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. the disease may affect only one bone or several bones; but it does not affect the entire skeleton. bones with paget disease may break more easily, and the disease can lead to other health problems. the cause of paget disease is unknown, although it may be associated with faulty genes or viral infections early in life. last updated: 12/12/2011

Genetics Home Reference:21 Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured).

OMIM:45 Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting 1... (602080) more...

Aliases & Classifications for Paget Disease of Bone

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Paget Disease of Bone, Aliases & Descriptions:

Name: Paget Disease of Bone 45 9 10 41 21
Osteitis Deformans 9 41 21 22 60
Paget's Disease of Bone 9 21 32
Osseous Paget's Disease 9 21
Paget's Bone Disease 9 20
 
Pdb 41 21
Pagets Disease of Bone 11
Paget Disease, Bone 21
Pagets Bone Disease 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


External Ids:

OMIM45 602080
Disease Ontology9 DOID:5408
ICD9CM27 731.0
NCIt38 C3292
ICD1025 M88

Related Diseases for Paget Disease of Bone

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

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1paget disease, juvenile31.3TNFRSF11A, CALCA
2mammary paget's disease31.1VCP, SQSTM1
3myopathy31.0GNE, VCP, RPS27A, PDLIM3
4hypophosphatasia30.9ALPP
5dementia30.9SQSTM1, RPS27A, SNCA, VCP
6osteitis fibrosa30.8ALPP, PDLIM3
7primary hyperparathyroidism30.5ALPP, CALCA, IBSP
8osteoporosis30.4IBSP, TNFRSF11A, CALCA, ALPP
9prostate cancer29.8IBSP, TNFRSF11A, IL1R1, RPS27A, ALPP, SQSTM1
10breast cancer28.7IBSP, TNFRSF11A, VCP, IL1R1, SNCA, RPS27A
11inclusion body myopathy with paget disease of bone and frontotemporal dementia10.6
12inclusion body myopathy with early-onset paget disease and frontotemporal dementia10.5
13osteolysis, familial expansile10.5TNFRSF11A, SQSTM1
14fascioliasis10.5ALPP
15paget disease of bone, familial10.4
16osteomyelitis10.4IBSP
17semantic dementia10.4RPS27A
18neuronal intranuclear inclusion disease10.4RPS27A
19giant cell reparative granuloma10.4TNFRSF11A, CALCA
20spastic paraplegia - paget disease of bone10.4
21angioid streaks10.4
22alcoholic hepatitis10.3RPS27A, SQSTM1
23renal osteodystrophy10.3CALCA, ALPP
24rem sleep behavior disorder10.3SNCA
25fibrous dysplasia10.3IBSP, ALPP
26marchiafava bignami disease10.3ALPP, CALCA, TNFRSF11A
27parathyroid adenoma10.2CALCA, ALPP
28hypercalcemia10.2TNFRSF11A, CALCA, ALPP
29hypoparathyroidism10.2CALCA, ALPP
30bone cancer10.2ALPP, TNFRSF11A, IBSP
31hypophosphatemia10.2CALCA, ALPP
32giant cell tumor10.2TNFRSF11A, CALCA
33iritis10.2
34prostatitis10.2
35retinitis10.2
36hemifacial spasm10.2
37gingivitis10.2IL1B, ALPP
38secondary hyperparathyroidism of renal origin10.2CALCA, ALPP
39synovitis10.2IL1B, IL1R1
40familial cold autoinflammatory syndrome10.1IL1R1, IL1B
41limb-girdle muscular dystrophy10.1
42osteosarcoma arising in bone paget's disease10.1
43hyperparathyroidism10.1
44muscular dystrophy10.1
45cinca syndrome10.1IL1R1, IL1B
46muckle-wells syndrome10.1IL1B, IL1R1
47bacterial vaginosis10.1IL1B, IL1R1
48shigellosis10.1IL1B, IL1R1
49chorioamnionitis10.1IL1R1, IL1B
50osteomalacia10.1CALCA, ALPP

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



Diseases related to paget disease of bone

Symptoms for Paget Disease of Bone

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Symptoms by clinical synopsis from OMIM:

602080

Clinical features from OMIM:

602080

HPO human phenotypes related to Paget Disease of Bone:

(show all 16)
id Description Frequency HPO Source Accession
1 bilateral conductive hearing impairment 40% HP:0008513
2 autosomal dominant inheritance HP:0000006
3 heterogeneous HP:0001425
4 tetraparesis HP:0002273
5 paraparesis HP:0002385
6 long-tract signs HP:0002423
7 brain stem compression HP:0002512
8 abnormality of pelvic girdle bone morphology HP:0002644
9 bone pain HP:0002653
10 increased susceptibility to fractures HP:0002659
11 osteolysis HP:0002797
12 vertebral compression fractures HP:0002953
13 hydroxyprolinuria HP:0003080
14 fractures of the long bones HP:0003084
15 elevated alkaline phosphatase HP:0003155
16 cranial nerve paralysis HP:0006824

Drugs & Therapeutics for Paget Disease of Bone

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Drug clinical trials:

Search ClinicalTrials for Paget Disease of Bone

Search NIH Clinical Center for Paget Disease of Bone

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Paget Disease of Bone

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Genetic tests related to Paget Disease of Bone:

id Genetic test Affiliating Genes
1 Paget Disease of Bone20 TNFRSF11A
2 Osteitis Deformans22

Anatomical Context for Paget Disease of Bone

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MalaCards organs/tissues related to Paget Disease of Bone:

31
Bone, Testes, Skin, Brain

FMA organs/tissues related to Paget Disease of Bone:

14
Skull, Pelvis, Vertebral column, Set of limbs

Animal Models for Paget Disease of Bone or affiliated genes

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MGI Mouse Phenotypes related to Paget Disease of Bone:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8TNFRSF11A, VCP, IL1R1, SNCA, CALCA, SQSTM1
2MP:00053878.4TNFRSF11A, VCP, IL1R1, IL1B, SNCA, SQSTM1
3MP:00053858.4GNE, VCP, IL1R1, IL1B, SNCA, CALCA
4MP:00053908.3SQSTM1, IBSP, TNFRSF11A, VCP, IL1R1, IL1B
5MP:00053868.3GNE, TNFRSF11A, VCP, IL1R1, SNCA, CALCA
6MP:00053788.1IBSP, GNE, TNFRSF11A, VCP, IL1R1, SNCA
7MP:00053768.0GNE, TNFRSF11A, IL1R1, IL1B, SNCA, CALCA
8MP:00107687.5GNE, TNFRSF11A, VCP, IL1R1, IL1B, SNCA

Publications for Paget Disease of Bone

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Articles related to Paget Disease of Bone:

(show all 24)
idTitleAuthorsYear
1
Coexistence of paget disease of bone and primary hyperparathyroidism; a diagnostic challenge. (23728113)
2013
2
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. (22909335)
2013
3
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family. (21320982)
2011
4
A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. (21412659)
2011
5
Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone. (20499339)
2010
6
Enhanced ATPase activities as a primary defect of mutant valosin-containing proteins that cause inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. (20604808)
2010
7
Recent advances in understanding the molecular basis of Paget disease of bone. (19858527)
2010
8
A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia. (19208399)
2009
9
VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder. (18845250)
2008
10
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. (18260132)
2008
11
Therapy with zoledronic acid, 5 mg, for a patient with Paget disease of bone. (18753106)
2008
12
Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. (17935506)
2007
13
-511 C/T IL1B gene polymorphism is associated to resistance to bisphosphonates treatment in Paget disease of bone. (16257277)
2006
14
Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. (16317258)
2005
15
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. (15034582)
2004
16
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. (11992264)
2002
17
Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. (11749051)
2001
18
Paget disease of bone: mapping of two loci at 5q35-qter and 5q31. (11473345)
2001
19
Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35. (11555792)
2001
20
Short- and long-term effects of ibandronate treatment on bone turnover in Paget disease of bone. (10794751)
2000
21
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. (11252708)
2000
22
Evidence for a novel osteosarcoma tumor-suppressor gene in the chromosome 18 region genetically linked with Paget disease of bone. (9718349)
1998
23
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia (20301649)
1993
24
Gallium nitrate for advanced Paget disease of bone: effectiveness and dose-response analysis. (2240900)
1990

Variations for Paget Disease of Bone

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

62
id Symbol AA change Variation ID SNP ID
1SQSTM1p.Pro387LeuVAR_023592
2SQSTM1p.Pro392LeuVAR_023593rs104893941
3SQSTM1p.Ser399ProVAR_023594
4SQSTM1p.Met404ThrVAR_023595
5SQSTM1p.Met404ValVAR_023596
6SQSTM1p.Gly411SerVAR_023597
7SQSTM1p.Gly425ArgVAR_023598

Clinvar genetic disease variations for Paget Disease of Bone:

6
id Gene Variation Type Significance SNP ID Assembly Location
1TNFRSF11ATNFRSF11A, 27-BP DUP, NT75duplicationPathogenic
2SQSTM1NM_001142298.1(SQSTM1): c.923C> T (p.Pro308Leu)single nucleotide variantPathogenicrs104893941GRCh37Chr 5, 179263445: 179263445
3SQSTM1SQSTM1, 1-BP INS, 1224TinsertionPathogenic
4SQSTM1SQSTM1, IVS7, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Paget Disease of Bone

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

Pathways for genes affiliated with Paget Disease of Bone

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Compounds for genes affiliated with Paget Disease of Bone

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Compounds related to Paget Disease of Bone according to GeneCards Suite gene sharing:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1denosumab43 1211.4TNFRSF11A, CALCA
2strontium ranelate4310.3IBSP, CALCA
3thioflavine s4310.2SNCA, RPS27A
4ibandronate43 1211.2IBSP, CALCA
5tiludronate43 49 1212.2IL1B, CALCA
6pyridinoline4310.1ALPP, CALCA
7ipriflavone4310.1ALPP, CALCA
824,25-dihydroxyvitamin d34310.0CALCA, ALPP
9etidronate4310.0CALCA, ALPP
10monosodium urate439.9IL1R1, IL1B
11tenidap43 2810.9IL1R1, IL1B
12alizarin439.8IBSP, ALPP
13i-app439.8SNCA, CALCA
14deoxypyridinoline439.8IBSP, CALCA, ALPP
15silver439.8RPS27A, SNCA, IBSP
16zoledronic acid439.8IBSP, CALCA, ALPP
17anakinra43 1210.8IL1R1, IL1B
18hydroxyproline43 24 1211.8ALPP, CALCA, IBSP
19hydroxyapatite439.8IBSP, TNFRSF11A, ALPP
20etidronic acid43 49 1211.7ALPP, CALCA, IL1B
21risedronate43 49 28 59 1213.7IL1B, CALCA, ALPP
22corticosterone43 59 2411.7CALCA, IL1B, IL1R1
23guanidine hydrochloride439.6ALPP, RPS27A, SNCA
241,25 dihydroxy vitamin d3439.6ALPP, CALCA, TNFRSF11A, IBSP
25calcium carbonate439.6CALCA, ALPP
26polyethylene glycol439.5ALPP, SNCA, IL1R1
27indomethacin43 28 59 1212.5IL1R1, IL1B, RPS27A, CALCA
28calcitriol43 59 24 1212.5TNFRSF11A, IL1B, CALCA, ALPP
29n acetylcysteine439.4IL1R1, IL1B, SNCA, RPS27A
30sodium dodecylsulfate439.4IL1R1, SNCA, RPS27A, ALPP
31vitamin d439.4IBSP, IL1R1, CALCA, ALPP
32hydrocortisone43 2 59 1212.4IL1R1, IL1B, CALCA, ALPP
33norepinephrine43 24 1211.2IL1R1, SNCA, CALCA, ALPP, SQSTM1
34sb 20358043 5910.2IL1R1, IL1B, SNCA, ALPP
35ibmx43 59 2811.1IBSP, IL1R1, IL1B, CALCA, ALPP
36paraffin439.1IBSP, IL1R1, SNCA, RPS27A, ALPP
37cyclosporin a43 28 5911.0ALPP, CALCA, RPS27A, IL1R1
38cycloheximide439.0IBSP, IL1R1, IL1B, RPS27A, ALPP
39testosterone43 59 24 1212.0IL1R1, SNCA, RPS27A, CALCA, ALPP
40nitric oxide43 24 1211.0TNFRSF11A, IL1R1, IL1B, SNCA, CALCA
41estrogen438.9IBSP, TNFRSF11A, IL1R1, RPS27A, CALCA, ALPP
42creatinine438.9IBSP, IL1R1, RPS27A, CALCA, ALPP, PDLIM3
43dexamethasone43 49 28 1211.8IBSP, TNFRSF11A, IL1R1, IL1B, RPS27A, ALPP
44threonine438.8IBSP, VCP, IL1R1, RPS27A, SQSTM1
45glutamate438.8IBSP, IL1R1, SNCA, RPS27A, CALCA, ALPP
46vegf438.6IBSP, TNFRSF11A, IL1R1, IL1B, RPS27A, CALCA
47serine438.4IBSP, TNFRSF11A, VCP, IL1R1, SNCA, RPS27A
48calcium43 49 24 1211.3IBSP, TNFRSF11A, VCP, IL1R1, SNCA, CALCA
49pge2438.2ALPP, IBSP, TNFRSF11A, IL1R1, IL1B, SNCA
50tyrosine438.1IBSP, TNFRSF11A, VCP, IL1R1, SNCA, RPS27A

GO Terms for genes affiliated with Paget Disease of Bone

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Cellular components related to Paget Disease of Bone according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1terminal boutonGO:00431959.8CALCA, SNCA

Biological processes related to Paget Disease of Bone according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1monocyte chemotaxisGO:000254810.1TNFRSF11A, CALCA
2regulation of I-kappaB kinase/NF-kappaB signalingGO:004312210.0SQSTM1, IL1B
3embryo implantationGO:00075669.8CALCA, IL1B
4response to interleukin-1GO:00705559.7SNCA, IL1R1, TNFRSF11A
5positive regulation of interleukin-8 productionGO:00327579.7IL1B, CALCA
6positive regulation of NF-kappaB transcription factor activityGO:00510929.7RPS27A, IL1B, TNFRSF11A
7positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.5RPS27A, IL1B, TNFRSF11A
8receptor internalizationGO:00316239.5CALCA, SNCA

Molecular functions related to Paget Disease of Bone according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein domain specific bindingGO:00199049.5SNCA, IL1B, VCP
2identical protein bindingGO:00428029.1SQSTM1, CALCA, SNCA, VCP

Products for genes affiliated with Paget Disease of Bone

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Sources for Paget Disease of Bone

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet