MCID: PGT001
MIFTS: 59

Paget's Disease of Bone

Categories: Rare diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Paget's Disease of Bone

MalaCards integrated aliases for Paget's Disease of Bone:

Name: Paget's Disease of Bone 12 76 25 37 43 15
Paget Disease of Bone 12 53 25 29 13 6 40
Osteitis Deformans 12 76 53 25 44 73
Paget Disease of Bone, Familial 53 29 6
Osseous Paget's Disease 12 25
Pdb 53 25
Familial Paget's Disease of Bone 12
Familial Paget Disease of Bone 53
Paget's Bone Disease 12
Paget Disease, Bone 25
Pagets Bone Disease 55

Classifications:



External Ids:

Disease Ontology 12 DOID:5408
ICD10 33 M88
MeSH 44 D010001
NCIt 50 C3292
KEGG 37 H00437
UMLS 73 C0029401

Summaries for Paget's Disease of Bone

MedlinePlus : 43 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's Disease of Bone, also known as paget disease of bone, is related to mammary paget's disease and paget disease of bone 5, juvenile-onset, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Paget's Disease of Bone is SQSTM1 (Sequestosome 1), and among its related pathways/superpathways are Osteoclast differentiation and Cytokine Signaling in Immune system. The drugs Zoledronic acid and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include skull, pelvis and vertebral column, and related phenotypes are immune system and limbs/digits/tail

Disease Ontology : 12 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.

Genetics Home Reference : 25 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).

NIH Rare Diseases : 53 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.

Wikipedia : 76 Paget\'s disease of bone (commonly known as Paget\'s disease or historically, osteitis deformans) is a... more...

Related Diseases for Paget's Disease of Bone

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 mammary paget's disease 33.0 CALCA SQSTM1 VCP
2 paget disease of bone 5, juvenile-onset 30.9 CALCA TNFRSF11A TNFRSF11B TNFSF11
3 osteitis fibrosa 29.2 B2M BGLAP CALCA PTH
4 osteoporosis 26.3 ACP5 BGLAP CALCA CSF1 PTH TNFRSF11A
5 bone disease 25.5 ACP5 B2M BGLAP CALCA CSF1 PTH
6 paget disease of bone 3 11.6
7 paget disease of bone 2, early-onset 10.9 SQSTM1 TNFRSF11A
8 behavioral variant of frontotemporal dementia 10.9 SQSTM1 VCP
9 periostitis 10.7 SQSTM1 TNFRSF11A
10 breast leiomyosarcoma 10.7 TNFRSF11A TNFSF11
11 giant cell reparative granuloma 10.6 CALCA TNFRSF11A
12 kummell's disease 10.6 TNFRSF11B TNFSF11
13 periodontitis, chronic 10.6 TNFRSF11B TNFSF11
14 chronic apical periodontitis 10.6 TNFRSF11B TNFSF11
15 osteopetrosis, autosomal dominant 2 10.5 BGLAP TNFSF11
16 amyotrophic lateral sclerosis type 14 10.5 OPTN VCP
17 polyarticular onset juvenile idiopathic arthritis 10.5 TNFRSF11A TNFRSF11B TNFSF11
18 hemophilic arthropathy 10.5 TNFRSF11A TNFRSF11B TNFSF11
19 aneurysmal bone cysts 10.4 CALCA TNFRSF11A TNFSF11
20 axial osteomalacia 10.4 BGLAP PTH
21 osteoporosis, juvenile 10.4 BGLAP CALCA
22 extraskeletal chondroma 10.4 BGLAP PTH
23 mandibular cancer 10.3 CSF1 TNFSF11
24 amyotrophic lateral sclerosis 21 10.3 OPTN VCP
25 periodontal disease 10.3 TNFRSF11A TNFRSF11B TNFSF11
26 familial expansile osteolysis 10.2 SQSTM1 TNFRSF11A TNFRSF11B TNFSF11
27 periodontitis 10.2 BGLAP TNFRSF11B TNFSF11
28 hypercalcemia, infantile, 1 10.2 CALCA PTH
29 multicentric reticulohistiocytosis 10.2 CSF1 TNFRSF11B TNFSF11
30 osteopetrosis 10.1 CSF1 TNFRSF11A TNFSF11
31 fibrogenesis imperfecta ossium 10.1 CALCA PTH TNFRSF11B
32 chronic pyelonephritis 10.1 B2M CALCA
33 endosteal hyperostosis, autosomal dominant 10.1 CSF1 TNFRSF11B TNFSF11
34 motor neuron disease 10.1 OPTN SQSTM1 VCP
35 root resorption 10.1 CALCA TNFRSF11A TNFRSF11B TNFSF11
36 angioid streaks 10.1
37 hypophosphatasia, adult 10.1 BGLAP CALCA PTH
38 parathyroid gland disease 10.1 BGLAP CALCA PTH
39 parathyroid adenoma 10.0 BGLAP CALCA PTH
40 arthropathy 10.0 B2M TNFRSF11B TNFSF11
41 uremic neuropathy 10.0 B2M PTH
42 primary hyperparathyroidism 10.0 BGLAP CALCA PTH
43 prostate cancer 9.9
44 iritis 9.9
45 prostatitis 9.9
46 retinitis 9.9
47 hemifacial spasm 9.9
48 impaired renal function disease 9.9 BGLAP PTH
49 villonodular synovitis 9.9 ACP5 TNFSF11
50 jaw cancer 9.9 CSF1 PTH TNFSF11

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



Diseases related to Paget's Disease of Bone

Symptoms & Phenotypes for Paget's Disease of Bone

UMLS symptoms related to Paget's Disease of Bone:


back pain, muscle cramp, sciatica

MGI Mouse Phenotypes related to Paget's Disease of Bone:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.85 TNFRSF11B TNFSF11 VCP B2M CSF1 DCSTAMP
2 limbs/digits/tail MP:0005371 9.43 TNFRSF11A TNFRSF11B TNFSF11 VCP CSF1 PTH
3 skeleton MP:0005390 9.23 TNFRSF11A TNFRSF11B TNFSF11 VCP CSF1 DCSTAMP

Drugs & Therapeutics for Paget's Disease of Bone

Drugs for Paget's Disease of Bone (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic acid Approved Phase 4,Phase 3 118072-93-8 68740
2
Alendronate Approved Phase 4,Phase 3 121268-17-5, 66376-36-1 2088
3
Pamidronate Approved Phase 4 40391-99-9 4674
4
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 1406-16-2
5
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3 50-14-6 5280793
6 Bone Density Conservation Agents Phase 4,Phase 3,Not Applicable
7 Calcium, Dietary Phase 4,Phase 3
8 Micronutrients Phase 4,Phase 3
9 Trace Elements Phase 4,Phase 3
10 Diphosphonates Phase 4,Phase 3,Not Applicable
11 Ergocalciferols Phase 4,Phase 3
12 Pharmaceutical Solutions Phase 4,Phase 3
13 Vitamins Phase 4,Phase 3
14 Vitamin D2 Nutraceutical Phase 4,Phase 3
15 Calciferol Nutraceutical Phase 4,Phase 3
16
Teriparatide Approved, Investigational Phase 3 52232-67-4 16133850
17
Etidronic acid Approved Phase 3 7414-83-7, 2809-21-4 3305
18 Risedronate Sodium Phase 3 115436-72-1
19 calcium channel blockers Phase 3
20 Fluorides Not Applicable
21 Protective Agents Not Applicable
22 Liver Extracts
23 Arginine Vasopressin
24 Cariostatic Agents Not Applicable

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Single Dose of 5 mg Zoledronic Acid in Chinese Patients With Paget's Disease of Bone (PDB) Completed NCT00774020 Phase 4 Zoledronic acid
2 Re-treatment of Patients With Paget's Disease Using Zoledronic Acid Completed NCT00740129 Phase 4 Zoledronic Acid
3 Impact on Reducing the Incidence of Low Serum Calcium by Providing Educational Materials on the Need to Take Daily Supplemental Calcium and Vitamin D to Patients With Paget's Disease Treated With Reclast® Completed NCT00668200 Phase 4 Reclast (ZOL446, zoledronic acid)
4 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
5 A Pilot Study to Evaluate the Effect of Forsteo (Teriparatide, 1-34-rh-PTH) in Anorexia Nervosa Patients With Low Bone Mineral Density and Increased Bone Fagility (FAN-Trial) Unknown status NCT01801397 Phase 3 osteoanabolic therapy
6 A Research Study to Test the Effectiveness of MK0217 in Patients With Paget's Bone Disease (0217-206)(COMPLETED) Completed NCT00480662 Phase 3 alendronate
7 Safety and Efficacy Trial With Zoledronic Acid for the Treatment of Paget's Disease of Bone, Including an Extended Observation Period Completed NCT00103740 Phase 3 zoledronic acid;placebo to zoledronic acid;Risedronate;Placebo to risedronate;Calcium and vitamin D supplements
8 Safety and Efficacy Trial With Zoledronic Acid for the Treatment of Paget's Disease of Bone, Including an Extended Observation Period Completed NCT00051636 Phase 3 Zoledronic Acid;Risedronate;Placebo to Risedronate;Placebo to Zoledronic Acid
9 Preliminary Study for Identification of Calcium-Binding Proteins in the Serum in Various Metabolic Bone Disorders Unknown status NCT00403598
10 Genetic Study of Families Affected by Paget's Disease of Bone Completed NCT00747994
11 18F-Fluoride Positron Emission Tomography (PET) in Paget's Disease of Bone Completed NCT00306046 Not Applicable Bisphosphonate treatment
12 Sodium Risedronate Tablets - Special Drug Use Surveillance in Patients With Osseous Paget's Disease (All-case Surveillance) -48-week Surveillance − Completed NCT02106455 Sodium risedronate
13 Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary Hyperparathyroidism Completed NCT03027349
14 Pathophysiology of Paget's Disease of Bone Recruiting NCT02802384
15 Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD) Recruiting NCT01353430
16 Characterization of Familial Myopathy and Paget Disease of Bone Recruiting NCT01166854
17 Inheritance of Osteosarcoma & Paget's Disease Through Chromosome 18: Terminated NCT00615628

Search NIH Clinical Center for Paget's Disease of Bone

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


Cochrane evidence based reviews: osteitis deformans

Genetic Tests for Paget's Disease of Bone

Genetic tests related to Paget's Disease of Bone:

# Genetic test Affiliating Genes
1 Paget Disease of Bone 29
2 Paget Disease of Bone, Familial 29 SQSTM1

Anatomical Context for Paget's Disease of Bone

The Foundational Model of Anatomy Ontology organs/tissues related to Paget's Disease of Bone:

19
Skull, Pelvis, Vertebral Column, Set Of Limbs

MalaCards organs/tissues related to Paget's Disease of Bone:

41
Bone, Testes, Skin, Liver, Bone Marrow, Prostate, Monocytes

Publications for Paget's Disease of Bone

Articles related to Paget's Disease of Bone:

(show top 50) (show all 623)
# Title Authors Year
1
Polymorphisms in genes implicated in base excision repair (BER) pathway are associated with susceptibility to Paget's disease of bone. ( 29630930 )
2018
2
Prevalence of pelvic Paget's disease of bone in France. ( 29175270 )
2018
3
Hearing in Paget's disease of bone. ( 29880223 )
2018
4
Molecular effect of an OPTN common variant associated to Paget's disease of bone. ( 29782529 )
2018
5
Prevalence of Paget's disease of bone in Lancaster: time for an update. ( 29401322 )
2018
6
A quest for clarity in bone erosion: The role of sequestosome 1 in Paget's disease of bone. ( 29907733 )
2018
7
ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone. ( 29493781 )
2018
8
Evaluation of a Patient With Temporomandibular Joint Disorders in Paget's Disease of Bone. ( 29361426 )
2018
9
Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone. ( 28993189 )
2018
10
Paget's Disease of Bone: Diagnosis and Treatment. ( 29752905 )
2018
11
A likely cranial osteodystrophy (Paget's disease of bone) in a Precolumbian, Mesoamerican stone sculpture. ( 28255822 )
2017
12
Paget's disease of bone. ( 28780255 )
2017
13
Paget's Disease of Bone Presenting with Peripheral Neuropathy. ( 29279507 )
2017
14
Familial Early-Onset Paget's Disease of Bone Associated with a Novel hnRNPA2B1 Mutation. ( 28389692 )
2017
15
Total hip arthroplasty in patients with Paget's disease of bone: A systematic review. ( 28473965 )
2017
16
The Changing Presentation of Paget's Disease of Bone in Australia, A High Prevalence Region. ( 28884211 )
2017
17
Bisphosphonates for Paget's disease of bone in adults. ( 29192423 )
2017
18
Clinical and Genetic Advances in Paget's Disease of Bone: a Review. ( 28255281 )
2017
19
Effect of a rare genetic variant of TM7SF4 gene on osteoclasts of patients with Paget's disease of bone. ( 29145829 )
2017
20
Antibody Response to Paramyxoviruses in Paget's Disease of Bone. ( 28361207 )
2017
21
A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation. ( 29127544 )
2017
22
A FKBP5 mutation is associated with Paget's disease of bone and enhances osteoclastogenesis. ( 28524179 )
2017
23
Determinants of quality of life in Paget's disease of bone. ( 28967630 )
2017
24
NFAM1 signaling enhances osteoclast formation and bone resorption activity in Paget's disease of bone. ( 28506889 )
2017
25
Long-Term Randomized Trial of Intensive Versus Symptomatic Management in Paget's Disease of Bone: The PRISM-EZ Study. ( 28176386 )
2017
26
Long-Term Bone Scintigraphy Results After Intravenous Zoledronate in Paget's Disease of Bone. ( 28324123 )
2017
27
Proangiogenic gene polymorphisms are associated with susceptibility to Paget's disease of bone and with its clinical features. ( 28339363 )
2017
28
Adult Paget's disease of bone: a review. ( 28339664 )
2017
29
Circulating Dickkopf-1 and sclerostin in patients with Paget's disease of bone. ( 28054306 )
2017
30
Editorial: Paget's disease of bone. ( 27853907 )
2016
31
Diagnosis and treatment of Paget's disease of bone : AA clinical practice guideline. ( 27600563 )
2016
32
Long-Term Effects of Intravenous Ibandronate in Paget's Disease of Bone. ( 27866237 )
2016
33
Asymptomatic Paget's disease of bone in a 62-year-old Nigerian man: three years post-alendronate therapy. ( 26870373 )
2016
34
Unusual presentation of Paget's disease of bone. ( 26944376 )
2016
35
ZNF687 mutations in severe paget disease of bone associated with giant cell tumor. ( 26849110 )
2016
36
Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene. ( 27209344 )
2016
37
VAV3 Gene Polymorphism Is Associated with Paget's Disease of Bone. ( 27172236 )
2016
38
Treatment of Paget's Disease of Bone with Denosumab: Case Report and Literature Review. ( 27193832 )
2016
39
Epidemiology and pathology of Paget's disease of bone - aA review. ( 27600564 )
2016
40
Imaging of Paget's disease of bone. ( 27761746 )
2016
41
Pathological fracture of the femur in a patient with Paget's disease of bone: a case report. ( 27516041 )
2016
42
An unusual presentation of metastatic bone disease in a subject with Paget's disease of bone. ( 27843872 )
2016
43
IMAGES IN CLINICAL MEDICINE. Paget's Disease of Bone. ( 27028916 )
2016
44
Two diagnoses from bone marrow biopsy: multiple myeloma and Paget's disease of bone. ( 26912764 )
2016
45
Development of a molecular test of Paget's disease of bone. ( 26772620 )
2016
46
Durability of Response to Zoledronate Treatment and Competing Mortality in Paget's Disease of Bone. ( 27808435 )
2016
47
Giant Cell Tumor Developing in Paget's Disease of Bone: A Case Report with Review of Literature. ( 28164066 )
2016
48
Bone Quality in Paget's Disease of Bone. ( 26943142 )
2016
49
Environmental factors associated with familial or non-familial forms of Paget's disease of bone. ( 27932202 )
2016
50
Computer-assisted quantitative evaluation of bisphosphonate treatment for Paget's disease of bone using the bone scan index. ( 28105116 )
2016

Variations for Paget's Disease of Bone

ClinVar genetic disease variations for Paget's Disease of Bone:

6
(show top 50) (show all 186)
# 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 TNFRSF11A NM_003839.3(TNFRSF11A): c.75+5G> A single nucleotide variant Benign/Likely benign rs146553439 GRCh37 Chromosome 18, 59992665: 59992665
6 TNFRSF11A NM_003839.3(TNFRSF11A): c.75+5G> A single nucleotide variant Benign/Likely benign rs146553439 GRCh38 Chromosome 18, 62325432: 62325432
7 TNFRSF11A NM_003839.3(TNFRSF11A): c.-9T> C single nucleotide variant Benign/Likely benign rs1805033 GRCh37 Chromosome 18, 59992577: 59992577
8 TNFRSF11A NM_003839.3(TNFRSF11A): c.-9T> C single nucleotide variant Benign/Likely benign rs1805033 GRCh38 Chromosome 18, 62325344: 62325344
9 TNFRSF11A NM_003839.3(TNFRSF11A): c.6C> G (p.Ala2=) single nucleotide variant Benign/Likely benign rs35589394 GRCh37 Chromosome 18, 59992591: 59992591
10 TNFRSF11A NM_003839.3(TNFRSF11A): c.6C> G (p.Ala2=) single nucleotide variant Benign/Likely benign rs35589394 GRCh38 Chromosome 18, 62325358: 62325358
11 SQSTM1 NM_003900.4(SQSTM1): c.1132A> T (p.Lys378Ter) single nucleotide variant Pathogenic rs796052213 GRCh38 Chromosome 5, 179833749: 179833749
12 SQSTM1 NM_003900.4(SQSTM1): c.1132A> T (p.Lys378Ter) single nucleotide variant Pathogenic rs796052213 GRCh37 Chromosome 5, 179260749: 179260749
13 SQSTM1 NM_003900.4(SQSTM1): c.822G> C (p.Glu274Asp) single nucleotide variant Benign/Likely benign rs55793208 GRCh37 Chromosome 5, 179260099: 179260099
14 SQSTM1 NM_003900.4(SQSTM1): c.822G> C (p.Glu274Asp) single nucleotide variant Benign/Likely benign rs55793208 GRCh38 Chromosome 5, 179833099: 179833099
15 SQSTM1 NM_003900.4(SQSTM1): c.876C> T (p.Asp292=) single nucleotide variant Benign/Likely benign rs4935 GRCh37 Chromosome 5, 179260153: 179260153
16 SQSTM1 NM_003900.4(SQSTM1): c.876C> T (p.Asp292=) single nucleotide variant Benign/Likely benign rs4935 GRCh38 Chromosome 5, 179833153: 179833153
17 SQSTM1 NM_003900.4(SQSTM1): c.936G> A (p.Arg312=) single nucleotide variant Benign/Likely benign rs4797 GRCh37 Chromosome 5, 179260213: 179260213
18 SQSTM1 NM_003900.4(SQSTM1): c.936G> A (p.Arg312=) single nucleotide variant Benign/Likely benign rs4797 GRCh38 Chromosome 5, 179833213: 179833213
19 SQSTM1 NM_003900.4(SQSTM1): c.954C> T (p.Ser318=) single nucleotide variant Benign/Likely benign rs56092424 GRCh37 Chromosome 5, 179260231: 179260231
20 SQSTM1 NM_003900.4(SQSTM1): c.954C> T (p.Ser318=) single nucleotide variant Benign/Likely benign rs56092424 GRCh38 Chromosome 5, 179833231: 179833231
21 SQSTM1 NM_003900.4(SQSTM1): c.961C> T (p.Arg321Cys) single nucleotide variant Benign/Likely benign rs140226523 GRCh37 Chromosome 5, 179260238: 179260238
22 SQSTM1 NM_003900.4(SQSTM1): c.961C> T (p.Arg321Cys) single nucleotide variant Benign/Likely benign rs140226523 GRCh38 Chromosome 5, 179833238: 179833238
23 SQSTM1 NM_003900.4(SQSTM1): c.1044G> A (p.Pro348=) single nucleotide variant Benign/Likely benign rs10058037 GRCh37 Chromosome 5, 179260661: 179260661
24 SQSTM1 NM_003900.4(SQSTM1): c.1044G> A (p.Pro348=) single nucleotide variant Benign/Likely benign rs10058037 GRCh38 Chromosome 5, 179833661: 179833661
25 TNFRSF11A NM_003839.3(TNFRSF11A): c.-39G> A single nucleotide variant Likely benign rs7238731 GRCh38 Chromosome 18, 62325314: 62325314
26 TNFRSF11A NM_003839.3(TNFRSF11A): c.-39G> A single nucleotide variant Likely benign rs7238731 GRCh37 Chromosome 18, 59992547: 59992547
27 TNFRSF11A NM_003839.3(TNFRSF11A): c.575C> T (p.Ala192Val) single nucleotide variant Benign/Likely benign rs1805034 GRCh38 Chromosome 18, 62360008: 62360008
28 TNFRSF11A NM_003839.3(TNFRSF11A): c.575C> T (p.Ala192Val) single nucleotide variant Benign/Likely benign rs1805034 GRCh37 Chromosome 18, 60027241: 60027241
29 TNFRSF11A NM_003839.3(TNFRSF11A): c.933A> G (p.Thr311=) single nucleotide variant Benign/Likely benign rs8092336 GRCh37 Chromosome 18, 60036083: 60036083
30 TNFRSF11A NM_003839.3(TNFRSF11A): c.933A> G (p.Thr311=) single nucleotide variant Benign/Likely benign rs8092336 GRCh38 Chromosome 18, 62368850: 62368850
31 TNFRSF11A NM_003839.3(TNFRSF11A): c.625G> A (p.Val209Ile) single nucleotide variant Benign/Likely benign rs146793660 GRCh37 Chromosome 18, 60028921: 60028921
32 TNFRSF11A NM_003839.3(TNFRSF11A): c.625G> A (p.Val209Ile) single nucleotide variant Benign/Likely benign rs146793660 GRCh38 Chromosome 18, 62361688: 62361688
33 TNFRSF11A NM_003839.3(TNFRSF11A): c.718A> G (p.Lys240Glu) single nucleotide variant Uncertain significance rs148185533 GRCh37 Chromosome 18, 60029014: 60029014
34 TNFRSF11A NM_003839.3(TNFRSF11A): c.718A> G (p.Lys240Glu) single nucleotide variant Uncertain significance rs148185533 GRCh38 Chromosome 18, 62361781: 62361781
35 SQSTM1 NM_003900.4(SQSTM1): c.-17C> T single nucleotide variant Uncertain significance rs761120269 GRCh38 Chromosome 5, 179820920: 179820920
36 SQSTM1 NM_003900.4(SQSTM1): c.-17C> T single nucleotide variant Uncertain significance rs761120269 GRCh37 Chromosome 5, 179247920: 179247920
37 SQSTM1 NM_003900.4(SQSTM1): c.181G> A (p.Gly61Ser) single nucleotide variant Uncertain significance rs749801323 GRCh38 Chromosome 5, 179821117: 179821117
38 SQSTM1 NM_003900.4(SQSTM1): c.181G> A (p.Gly61Ser) single nucleotide variant Uncertain significance rs749801323 GRCh37 Chromosome 5, 179248117: 179248117
39 SQSTM1 NM_003900.4(SQSTM1): c.253A> G (p.Met85Val) single nucleotide variant Uncertain significance rs886060502 GRCh38 Chromosome 5, 179823005: 179823005
40 SQSTM1 NM_003900.4(SQSTM1): c.253A> G (p.Met85Val) single nucleotide variant Uncertain significance rs886060502 GRCh37 Chromosome 5, 179250005: 179250005
41 SQSTM1 NM_003900.4(SQSTM1): c.811G> A (p.Val271Ile) single nucleotide variant Uncertain significance rs376283809 GRCh38 Chromosome 5, 179833088: 179833088
42 SQSTM1 NM_003900.4(SQSTM1): c.811G> A (p.Val271Ile) single nucleotide variant Uncertain significance rs376283809 GRCh37 Chromosome 5, 179260088: 179260088
43 SQSTM1 NM_003900.4(SQSTM1): c.819A> G (p.Pro273=) single nucleotide variant Conflicting interpretations of pathogenicity rs200388590 GRCh38 Chromosome 5, 179833096: 179833096
44 SQSTM1 NM_003900.4(SQSTM1): c.819A> G (p.Pro273=) single nucleotide variant Conflicting interpretations of pathogenicity rs200388590 GRCh37 Chromosome 5, 179260096: 179260096
45 SQSTM1 NM_003900.4(SQSTM1): c.955G> A (p.Glu319Lys) single nucleotide variant Benign/Likely benign rs61748794 GRCh37 Chromosome 5, 179260232: 179260232
46 SQSTM1 NM_003900.4(SQSTM1): c.955G> A (p.Glu319Lys) single nucleotide variant Benign/Likely benign rs61748794 GRCh38 Chromosome 5, 179833232: 179833232
47 SQSTM1 NM_003900.4(SQSTM1): c.*60C> T single nucleotide variant Uncertain significance rs369609665 GRCh37 Chromosome 5, 179263653: 179263653
48 SQSTM1 NM_003900.4(SQSTM1): c.*60C> T single nucleotide variant Uncertain significance rs369609665 GRCh38 Chromosome 5, 179836653: 179836653
49 SQSTM1 NM_003900.4(SQSTM1): c.*1138T> C single nucleotide variant Likely benign rs10277 GRCh38 Chromosome 5, 179837731: 179837731
50 SQSTM1 NM_003900.4(SQSTM1): c.*175T> G single nucleotide variant Uncertain significance rs186996560 GRCh37 Chromosome 5, 179263768: 179263768

Expression for Paget's Disease of Bone

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

Pathways for Paget's Disease of Bone

Pathways related to Paget's Disease of Bone according to KEGG:

37
# Name Kegg Source Accession
1 Osteoclast differentiation hsa04380

GO Terms for Paget's Disease of Bone

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.5 B2M BGLAP CALCA CSF1 PTH TNFRSF11B
2 extracellular region GO:0005576 9.23 B2M BGLAP CALCA CSF1 PTH TNFRSF11B

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.87 B2M BGLAP PTH TNFRSF11B
2 regulation of signaling receptor activity GO:0010469 9.85 CALCA CSF1 PTH TNFRSF11B TNFSF11
3 tumor necrosis factor-mediated signaling pathway GO:0033209 9.77 TNFRSF11A TNFRSF11B TNFSF11
4 ossification GO:0001503 9.67 BGLAP TNFRSF11A TNFSF11
5 monocyte chemotaxis GO:0002548 9.61 CALCA TNFRSF11A TNFSF11
6 positive regulation of osteoclast differentiation GO:0045672 9.6 CSF1 TNFSF11
7 response to vitamin D GO:0033280 9.58 BGLAP PTH
8 mammary gland alveolus development GO:0060749 9.58 TNFRSF11A TNFSF11
9 regulation of osteoclast differentiation GO:0045670 9.56 BGLAP TNFSF11
10 positive regulation of ossification GO:0045778 9.55 CALCA PTH
11 response to inorganic substance GO:0010035 9.54 BGLAP TNFRSF11B
12 positive regulation of macrophage differentiation GO:0045651 9.52 CALCA CSF1
13 negative regulation of bone resorption GO:0045779 9.51 CALCA TNFRSF11B
14 positive regulation of monocyte differentiation GO:0045657 9.48 CSF1 DCSTAMP
15 TNFSF11-mediated signaling pathway GO:0071847 9.4 TNFRSF11A TNFSF11
16 osteoclast proliferation GO:0002158 9.37 CSF1 TNFSF11
17 bone resorption GO:0045453 9.33 ACP5 PTH TNFSF11
18 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.32 TNFRSF11A TNFSF11
19 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.26 TNFRSF11A TNFSF11
20 positive regulation of bone resorption GO:0045780 9.13 DCSTAMP TNFRSF11A TNFSF11
21 osteoclast differentiation GO:0030316 8.92 CSF1 DCSTAMP TNFRSF11A TNFSF11

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

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-activated receptor activity GO:0005031 9.16 TNFRSF11A TNFRSF11B
2 identical protein binding GO:0042802 9.1 B2M CALCA CSF1 OPTN SQSTM1 VCP
3 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 8.96 OPTN SQSTM1

Sources for Paget's Disease of Bone

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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