PDB
MCID: PGT001
MIFTS: 58

Paget's Disease of Bone (PDB)

Categories: Bone diseases, Cancer diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 74 25 42 15
Paget Disease of Bone 12 52 25 36 29 6 39
Osteitis Deformans 12 74 52 25 43 71
Osseous Paget's Disease 12 25
Pdb 52 25
Familial Paget's Disease of Bone 12
Paget Disease of Bone, Familial 52
Familial Paget Disease of Bone 52
Paget's Bone Disease 12
Paget Disease, Bone 25
Pagets Bone Disease 54

Classifications:



External Ids:

Disease Ontology 12 DOID:5408
KEGG 36 H00437
MeSH 43 D010001
NCIt 49 C3292
SNOMED-CT 67 2089002
ICD10 32 M88 M88.9
UMLS 71 C0029401

Summaries for Paget's Disease of Bone

MedlinePlus : 42 What is Paget's disease of bone? Paget's disease of bone is a chronic bone disorder. Normally, there is a process in which your bones break down and then regrow. In Paget's disease, this process is abnormal. There is excessive breakdown and regrowth of bone. Because the bones regrow too quickly, they are bigger and softer than normal. They may be misshapen and easily fractured (broken). Paget's usually affects just one or a few bones. What causes Paget's disease of bone? Researchers do not know for sure what causes Paget's disease. Environmental factors may play a role. In some cases, the disease runs in families, and several genes have been linked to the disease. Who is at risk for Paget's disease of bone? The disease is more common in older people and those of northern European heritage. If you have a close relative who has Paget's, you are much more likely to have it. What are the symptoms of Paget's disease of bone? Many people do not know that they have Paget's, because it often has no symptoms. When there are symptoms, they are similar to those of arthritis and other disorders. The symptoms include Pain, which may be due to the disease or to arthritis, which can be a complication of Paget's Headaches and hearing loss, which can happen when Paget's disease affects the skull Pressure on the nerves, which can happen when Paget's disease affects the skull or spine Increased head size, bowing of a limb, or curvature of the spine. This can happen in advanced cases. Hip pain, if Paget's disease affects the pelvis or thighbone Damage to the cartilage of your joints, which may lead to arthritis Usually, Paget's disease gets worse slowly over time. It does not spread to normal bones. What other problems can Paget's disease of bone cause? Paget's disease can lead to other complications, such as Arthritis, because the misshapen bones can cause increased pressure and more wear and tear on the joints Heart failure. In severe Paget's disease, the heart has to work harder to pump blood to affected bones. Heart failure is more likely if you also have hardening of the arteries. Kidney stones, which can happen when the excessive breakdown of the bone leads to extra calcium in the body Nervous system problems, since the bones can cause pressure on the brain, spinal cord, or nerves. There may also be reduced blood flow to the brain and spinal cord. Osteosarcoma, cancer of the bone Loose teeth, if Paget's disease affects the facial bones Vision loss, if Paget's disease in the skull affects the nerves. This is rare. How is Paget's disease of bone diagnosed? To make a diagnosis, your health care provider Will take your medical history and ask about your symptoms Will do a physical exam Will do an x-ray of the affected bones. Paget's disease is almost always diagnosed using x-rays. May do an alkaline phosphatase blood test May do a bone scan Sometimes the disease is found by accident when one of these tests is done for another reason. What are the treatments for Paget's disease of bone? To avoid complications, it is important to find and treat Paget's disease early. The treatments include Medicines. There are several different medicines to treat Paget's disease. The most common type is bisphosphonates. They help reduce bone pain and stop or slow down the progress of the disease. Surgery is sometimes needed for certain complications of the disease. There are surgeries to Allow fractures (broken bones) to heal in a better position Replace joints such as the knee and hip when there is severe arthritis Realign a deformed bone to reduce the pain in weight-bearing joints, especially the knees Reduce pressure on a nerve, if enlargement of the skull or spine injuries effects the nervous system Diet and exercise do not treat Paget's, but they can help to keep your skeleton healthy. If you do not have kidney stones, you should make sure to get enough calcium and vitamin D through your diet and supplements. Besides keeping your skeleton healthy, exercise can prevent weight gain and maintain the mobility of your joints. Talk with your health care provider before you start a new exercise program. You need to make sure that the exercise does not put too much stress on the affected bones. 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 spastic paraplegia-paget disease of bone syndrome and inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Paget's Disease of Bone is PDB4 (Paget Disease Of Bone 4), and among its related pathways/superpathways are Osteoclast differentiation and Cytokine Signaling in Immune system. The drugs Alendronate and Zoledronic Acid have been mentioned in the context of this disorder. Affiliated tissues include skull, pelvis and vertebral column, and related phenotypes are hematopoietic system and immune system

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). The classic form of Paget disease of bone typically appears in middle age or later. It usually occurs in one or a few bones and does not spread from one bone to another. Any bones can be affected, although the disease most commonly affects bones in the spine, pelvis, skull, or legs. Many people with classic Paget disease of bone do not experience any symptoms associated with their bone abnormalities. The disease is often diagnosed unexpectedly by x-rays or laboratory tests done for other reasons. People who develop symptoms are most likely to experience pain. The affected bones may themselves be painful, or pain may be caused by arthritis in nearby joints. Arthritis results when the distortion of bones, particularly weight-bearing bones in the legs, causes extra wear and tear on the joints. Arthritis most frequently affects the knees and hips in people with this disease. Other complications of Paget disease of bone depend on which bones are affected. If the disease occurs in bones of the skull, it can cause an enlarged head, hearing loss, headaches, and dizziness. If the disease affects bones in the spine, it can lead to numbness and tingling (due to pinched nerves) and abnormal spinal curvature. In the leg bones, the disease can cause bowed legs and difficulty walking. A rare type of bone cancer called osteosarcoma has been associated with Paget disease of bone. This type of cancer probably occurs in less than 1 in 1,000 people with this disease. Early-onset Paget disease of bone is a less common form of the disease that appears in a person's teens or twenties. Its features are similar to those of the classic form of the disease, although it is more likely to affect the skull, spine, and ribs (the axial skeleton) and the small bones of the hands. The early-onset form of the disorder is also associated with hearing loss early in life.

NIH Rare Diseases : 52 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.

KEGG : 36 Paget disease of bone are rare inherited osteolytic disorders that show phenotypic overlap. Patients with these diseases carry mutations in RANK/TNFRSF11A, OPG/TNFRSF11B or SQSTM1, resulting in activation of RANKL-RANK signaling axis with increases in bone resorption. Hearing impairment and tooth loss is common. Apart from juvenile-onset Paget's disease (PDB5), the condition is inherited as an autosomal dominant trait.

Wikipedia : 74 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 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's Disease of Bone via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 302)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia-paget disease of bone syndrome 34.6 VCP SQSTM1
2 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 33.4 VCP HNRNPA2B1
3 inclusion body myopathy with paget disease of bone and frontotemporal dementia 33.1 VCP SQSTM1 HNRNPA2B1
4 multisystem proteinopathy 32.9 VCP SQSTM1 OPTN HNRNPA2B1
5 paget disease of bone 2, early-onset 31.2 TNFRSF11A SQSTM1
6 bone disease 31.1 TNFSF11 TNFRSF11B TNFRSF11A PTH CSF1 CALCA
7 familial expansile osteolysis 31.0 TNFSF11 TNFRSF11B TNFRSF11A SQSTM1
8 mammary paget's disease 31.0 VCP TNFSF11 TNFRSF11B TNFRSF11A SQSTM1 PTH
9 osteogenic sarcoma 30.9 TNFSF11 TNFRSF11B PTH BGLAP
10 paget disease of bone 5, juvenile-onset 30.6 TNFSF11 TNFRSF11B TNFRSF11A CALCA
11 osteomalacia 30.5 TNFSF11 PTH CALCA BGLAP
12 arthropathy 30.5 TNFSF11 TNFRSF11B TNFRSF11A B2M
13 primary hyperparathyroidism 30.4 TNFSF11 TNFRSF11B PTH CALCA BGLAP
14 fibrous dysplasia 30.4 TNFSF11 TNFRSF11B TNFRSF11A CALCA BGLAP
15 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 30.3 VCP SQSTM1 OPTN HNRNPA2B1
16 parathyroid adenoma 30.3 PTH CALCA BGLAP
17 osteomyelitis 30.3 TNFSF11 CALCA ACP5
18 hyperparathyroidism 30.2 TNFSF11 TNFRSF11B PTH CALCA BGLAP ACP5
19 pick disease of brain 30.2 VCP SQSTM1 OPTN
20 rickets 30.2 PTH CALCA BGLAP
21 hypercalcemia, infantile, 1 30.1 PTH CALCA
22 synovitis 30.1 TNFSF11 TNFRSF11B ACP5
23 hypocalcemia, autosomal dominant 1 30.1 PTH CALCA BGLAP
24 hypoparathyroidism 30.1 PTH CALCA BGLAP
25 periodontitis 30.0 TNFSF11 TNFRSF11B BGLAP ACP5
26 bone resorption disease 30.0 TNFSF11 TNFRSF11B TNFRSF11A PTH DCSTAMP CSF1
27 benign giant cell tumor 30.0 TNFSF11 TNFRSF11B TNFRSF11A CSF1 CALCA BGLAP
28 villonodular synovitis 30.0 TNFSF11 CSF1 ACP5
29 sclerosteosis 30.0 TNFSF11 TNFRSF11B PTH BGLAP
30 giant cell reparative granuloma 30.0 TNFSF11 TNFRSF11A PTH CALCA
31 osteonecrosis 29.9 TNFSF11 TNFRSF11B PTH BGLAP ACP5
32 pigmented villonodular synovitis 29.8 TNFSF11 TNFRSF11B CSF1 ACP5
33 hypophosphatemia 29.8 PTH BGLAP B2M
34 bone cancer 29.7 TNFSF11 TNFRSF11B TNFRSF11A PTH CALCA
35 osteitis fibrosa 29.7 PTH CALCA BGLAP B2M
36 nephrolithiasis 29.7 TNFRSF11B PTH BGLAP B2M
37 scoliosis 29.7 TNFSF11 TNFRSF11B TNFRSF11A BGLAP ACP5
38 secondary hyperparathyroidism 29.7 TNFRSF11B PTH CALCA BGLAP B2M ACP5
39 endosteal hyperostosis, autosomal dominant 29.6 TNFSF11 TNFRSF11B SQSTM1 DCSTAMP CSF1 ACP5
40 arthritis 29.6 TNFSF11 TNFRSF11A PTH CSF1 ACP5
41 hyperthyroidism 29.6 PTH CALCA BGLAP ACP5
42 brittle bone disorder 29.4 TNFSF11 TNFRSF11B PTH CALCA BGLAP ACP5
43 bone giant cell tumor 29.4 ZNF687 TNFSF11 TNFRSF11B TNFRSF11A PTH CSF1
44 renal osteodystrophy 29.2 TNFSF11 TNFRSF11B PTH CALCA BGLAP ACP5
45 rheumatoid arthritis 29.1 TNFSF11 TNFRSF11B TNFRSF11A PTH CSF1 BGLAP
46 chronic kidney disease 29.0 TNFSF11 TNFRSF11B PTH BGLAP B2M ACP5
47 osteopetrosis 28.7 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A CSF1 CALCA
48 myeloma, multiple 28.7 TRAF6 TNFSF11 TNFRSF11B PTH CSF1 BGLAP
49 osteoporosis 28.5 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A PTH CSF1
50 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 12.7

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, sciatica, muscle cramp

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 B2M BGLAP CSF1 DCSTAMP PTH SQSTM1
2 immune system MP:0005387 9.93 B2M BGLAP CSF1 DCSTAMP OPTN PTH
3 limbs/digits/tail MP:0005371 9.5 CSF1 PTH TNFRSF11A TNFRSF11B TNFSF11 TRAF6
4 skeleton MP:0005390 9.32 BGLAP CSF1 DCSTAMP PTH SQSTM1 TNFRSF11A

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 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
2
Zoledronic Acid Approved Phase 4 118072-93-8 68740
3
Pamidronate Approved Phase 4 40391-99-9 4674
4
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
5 Pharmaceutical Solutions Phase 4
6 Trace Elements Phase 4
7 Micronutrients Phase 4
8 Vitamins Phase 4
9 Nutrients Phase 4
10 Calciferol Phase 4
11 Diphosphonates Phase 4
12
Teriparatide Approved, Investigational Phase 3 52232-67-4 16133850
13
Risedronate Approved, Investigational Phase 3 105462-24-6 5245
14
Etidronic acid Approved Phase 3 2809-21-4, 7414-83-7 3305
15 calcium channel blockers Phase 3
16 Fluorides
17 Hormones
18 Calcium, Dietary
19
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A 6 Months, Open-Label Phase IV Study to Confirm the Safety and Efficacy of Single Intravenous Dose of 5 mg Zoledronic Acid for the Patients of Paget's Disease of Bone (PDB) in China Completed NCT00774020 Phase 4 Zoledronic acid
2 An Open Label, Reclast®/Aclasta®, Re-treatment of Relapsed Patients With Paget's Disease of Bone Who Participated in the CZOL446K2304 and CZOL446K2305 Core Registration Studies Completed NCT00740129 Phase 4 Zoledronic Acid
3 Post US Approval Voluntary Registry Study to Determine Incidence of Hypocalcemia Post Reclast® Treatment in Patients With Paget's Disease After Institution of Educational Strategies to Improve Adherence to Calcium and Vitamin D Supplementation 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 6-Month, Multicenter, Double-Blind, Randomized, Active-Controlled Study to Evaluate the Safety, Tolerability, and Efficacy of Alendronate 280-mg Oral Buffered Solution Once Weekly in Patients With Paget's Disease of Bone Completed NCT00480662 Phase 3 alendronate
7 Randomized, Double-Blind, Safety and Efficacy Trial With Intravenous Zoledronic Acid for the Treatment of Paget's Disease of Bone Using Risedronate as a Comparator, 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 Randomized, Double-blind, Safety and Efficacy Trial With Intravenous Zoledronic Acid for the Treatment of Paget's Disease of Bone Using Risedronate as a Comparator, Including an Extended Observational 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 Sodium Risedronate 17.5 mg Tablets Special Drug Use Surveillance in Patients With Osseous Paget's Disease (All-case Surveillance) - 48-week Surveillance − Completed NCT02106455 Sodium risedronate
11 Genetic Study of Families Affected by Paget's Disease of Bone Completed NCT00747994
12 Use of 18F-Fluoride Positron Emission Tomography in the Assessment and Evaluation of Therapy in Monostotic Paget's Disease of Bone Completed NCT00306046 Bisphosphonate treatment
13 Characterization of Familial Myopathy and Paget Disease of Bone Recruiting NCT01353430
14 Investigation of Pathophysiology of Angiogenesis and Osteogenesis in Paget's Disease of Bone Recruiting NCT02802384
15 Effect of 1 Month Preoperative Teriparatide Use on the Insertional Torque of Pedicle Screws for Lumbar Fusion Surgery Recruiting NCT03770338 Teriparatide
16 Inheritance of Osteosarcoma & Paget's Disease Through Chromosome 18: Examination of Osteosarcoma Tissue Samples From Two Family Members for Loss of Heterozygosity in the Chromosome 18 Region, Genetically Linked With Paget's Disease of Bone Terminated NCT00615628

Search NIH Clinical Center for Paget's Disease of Bone

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Calcitonin
salmon calcitonin

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

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:

40
Bone, Testes, Spinal Cord, Brain, Heart, Kidney, Skin

Publications for Paget's Disease of Bone

Articles related to Paget's Disease of Bone:

(show top 50) (show all 1940)
# Title Authors PMID Year
1
Management of Hydrocephalus in Paget's Disease of Bone: Systematic Review and Illustrative Case. 42 61
31881339 2020
2
Paget disease of bone in an elderly patient with chronic renal disease and weight loss: A case report. 42 61
31626101 2019
3
Clinical Reasoning: Progressive proximal weakness in a 56-year-old man with bone pain. 42
31740511 2019
4
[Is beta 2-microglobulin a marker of bone remodeling in Paget's disease of bone?]. 54 61
9476376 1997
5
Mutation of PFN1 Gene in an Early Onset, Polyostotic Paget-like Disease. 61
32392277 2020
6
Bisphosphonates in the management of Paget's disease. 61
32512166 2020
7
Total Distal Radioulnar Joint Arthroplasty for Paget's Disease of Bone. 61
32509431 2020
8
Paget's Disease of Bone and Cardiovascular Risk: a Pilot Study. 61
32516100 2020
9
The two faces of giant cell tumor of bone. 61
32502498 2020
10
Management of Paget's disease of bone. 61
31848640 2020
11
Osteoclast signaling-targeting miR-146a-3p and miR-155-5p are downregulated in Paget's disease of bone. 61
32485219 2020
12
Molecular modelling and dynamic simulations of sequestosome 1 (SQSTM1) missense mutations linked to Paget disease of bone. 61
32329415 2020
13
p62/SQSTM1, a Central but Unexploited Target: Advances in Its Physiological/Pathogenic Functions and Small Molecular Modulators. 61
32324396 2020
14
History of etidronate. 61
31911206 2020
15
Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7). 61
32298837 2020
16
A mutation in p62 protein (p. R321C), associated to Paget's disease of bone, causes a blockade of autophagy and an activation of NF-kB pathway. 61
32036052 2020
17
Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK. 61
31923705 2020
18
The evaluation and treatment of Paget's disease of bone. 61
32291204 2020
19
Preventive Role of Vitamin D Supplementation for Acute Phase Reaction after Bisphosphonate Infusion in Paget's Disease. 61
31634910 2020
20
Clinical features, diagnosis and treatment of Paget's disease of bone in mainland China: A systematic review. 61
32115673 2020
21
Osteonecrosis and spontaneous exfoliation of dental implants associated with oral bisphosphonate therapy: a case report. 61
31769879 2020
22
Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort. 61
32176830 2020
23
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology. 61
32106343 2020
24
Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected. 61
31848255 2020
25
Paget's Disease of Bone Affecting Peripheral Limb: Difficulties in Diagnosis: A Case Report. 61
32190611 2020
26
Long-term outcomes following total hip and total knee arthroplasty in patients with Paget's disease of bone (PDB) - A national study. 61
32081666 2020
27
Insights into the Design of p97-targeting Small Molecules from Structural Studies on p97 Functional Mechanism. 61
31584361 2020
28
C9ORF72 hexanucleotide repeat expansion frequency in patients with Paget's disease of bone. 61
31530427 2020
29
The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone. 61
31991009 2020
30
Clinical Guidelines on Paget's Disease of Bone. 61
31651997 2019
31
Paget's disease of bone: updates for clinicians. 61
31574000 2019
32
Inhibiting Human Calcitonin Fibril Formation with Its Most Relevant Aggregation-Resistant Analog. 61
31692350 2019
33
Phospholipase Cγ signaling in bone marrow stem cell and relevant natural compounds therapy. 61
31702518 2019
34
Familial Paget's disease of bone: Long-term follow-up of unaffected relatives with and without Sequestosome 1 mutations. 61
31449886 2019
35
Vitamin D Status in Paget Disease of Bone and Efficacy-Safety Profile of Cholecalciferol Treatment in Pagetic Patients with Hypovitaminosis D. 61
31236621 2019
36
Long term effects on biochemical bone markers of a single infusion of zoledronic acid in Paget disease of bone. 61
31669119 2019
37
Zoledronate in the prevention of Paget's (ZiPP): protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1-mediated Paget's disease of bone. 61
31488492 2019
38
Evaluation of a Patient With Temporomandibular Joint Disorders in Paget's Disease of Bone. 61
29361426 2019
39
VCP/p97 controls signals of the ERK1/2 pathway transmitted via the Shoc2 scaffolding complex: novel insights into IBMPFD pathology. 61
31091164 2019
40
Paget's Disease of Long Bones: Microstructural Analyses of Historical Bone Samples. 61
30850857 2019
41
Tartrate-resistant acid phosphatase 5b, but not periostin, is useful for assessing Paget's disease of bone. 61
31051316 2019
42
Long-term control of Paget's disease of bone with low-dose, once-weekly, oral bisphosphonate preparations, in a "real world" setting. 61
31154606 2019
43
Long-term control of Paget's disease of bone with low-dose, once-weekly, oral bisphosphonate preparations, in a "real world" setting. 61
31165411 2019
44
Positron emission tomography/computed tomography imaging appearance of benign and classic "do not touch" osseous lesions. 61
31396371 2019
45
Targeted sequencing of DCSTAMP in familial Paget's disease of bone. 61
30886882 2019
46
Primary intraosseous meningioma: clinical, histological, and differential diagnostic aspects. 61
31226688 2019
47
Pharmacology of bisphosphonates. 61
30650219 2019
48
Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget's Disease of Bone and Modifies the Age of Onset. 61
30726512 2019
49
Cotton Wool Sign in Paget Disease of Bone. 61
30799354 2019
50
Molecular insights into an ancient form of Paget's disease of bone. 61
31036632 2019

Variations for Paget's Disease of Bone

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

6 (show all 22) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNFRSF11A NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu)SNV Uncertain significance 287370 rs148185533 18:60029014-60029014 18:62361781-62361781
2 SQSTM1 NM_003900.5(SQSTM1):c.*1299_*1300GA[1]short repeat Uncertain significance 353185 rs745365806 5:179264891-179264892 5:179837891-179837892
3 SQSTM1 NM_003900.5(SQSTM1):c.*725_*728dupduplication Uncertain significance 353177 rs144467418 5:179264316-179264317 5:179837316-179837317
4 TNFRSF11A NM_001270949.1(TNFRSF11A):c.-49G>ASNV Uncertain significance 327723 rs886054081 18:59992537-59992537 18:62325304-62325304
5 TNFRSF11A NM_003839.4(TNFRSF11A):c.*321deldeletion Uncertain significance 327744 rs886054088 18:60052588-60052588 18:62385355-62385355
6 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1057A>TSNV Uncertain significance 327758 rs886054099 18:60053324-60053324 18:62386091-62386091
7 TNFRSF11A NM_003839.4(TNFRSF11A):c.*320dupduplication Uncertain significance 327742 rs552069161 18:60052576-60052577 18:62385343-62385344
8 TNFRSF11A NM_003839.4(TNFRSF11A):c.*379deldeletion Uncertain significance 327745 rs886054089 18:60052644-60052644 18:62385411-62385411
9 TNFRSF11A NM_003839.4(TNFRSF11A):c.*626_*627insCCinsertion Uncertain significance 327749 rs886054093 18:60052892-60052893 18:62385659-62385660
10 TNFRSF11A NM_003839.4(TNFRSF11A):c.*668G>TSNV Likely benign 327752 rs78622775 18:60052935-60052935 18:62385702-62385702
11 TNFRSF11A NM_003839.4(TNFRSF11A):c.*320deldeletion Likely benign 327743 rs552069161 18:60052577-60052577 18:62385344-62385344
12 TNFRSF11A NM_003839.4(TNFRSF11A):c.*634_*635dupduplication Likely benign 327750 rs142942284 18:60052894-60052895 18:62385661-62385662
13 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1251dupduplication Likely benign 327760 rs150401931 18:60053510-60053511 18:62386277-62386278
14 SQSTM1 NM_001142298.2(SQSTM1):c.-47-2056G>CSNV Likely benign 353151 rs189132632 5:179247902-179247902 5:179820902-179820902
15 SQSTM1 NM_003900.5(SQSTM1):c.*175_*176TG[8]short repeat Likely benign 353169 rs10688915 5:179263767-179263768 5:179836767-179836768
16 TNFRSF11A NM_003839.4(TNFRSF11A):c.75+5G>ASNV Benign/Likely benign 193258 rs146553439 18:59992665-59992665 18:62325432-62325432
17 TNFRSF11A NM_003839.4(TNFRSF11A):c.-9T>CSNV Benign/Likely benign 193259 rs1805033 18:59992577-59992577 18:62325344-62325344
18 TNFRSF11A NM_003839.4(TNFRSF11A):c.-39G>ASNV Benign/Likely benign 259177 rs7238731 18:59992547-59992547 18:62325314-62325314
19 TNFRSF11A NM_003839.4(TNFRSF11A):c.575C>T (p.Ala192Val)SNV Benign/Likely benign 259182 rs1805034 18:60027241-60027241 18:62360008-62360008
20 TNFRSF11A NM_003839.4(TNFRSF11A):c.933A>G (p.Thr311=)SNV Benign/Likely benign 259183 rs8092336 18:60036083-60036083 18:62368850-62368850
21 TNFRSF11A NM_003839.4(TNFRSF11A):c.421C>T (p.His141Tyr)SNV Benign/Likely benign 327729 rs35211496 18:60021761-60021761 18:62354528-62354528
22 TNFRSF11A NM_003839.4(TNFRSF11A):c.1519G>A (p.Ala507Thr)SNV Benign/Likely benign 327737 rs61751992 18:60036669-60036669 18:62369436-62369436

Cosmic variations for Paget's Disease of Bone:

9 (show all 19)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM89672495 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
2 COSM86627225 RB1 bone,NS,osteosarcoma,osteoblastic c.1399C>T p.R467* 13:48380062-48380062 45
3 COSM148074003 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
4 COSM131036045 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
5 COSM148686649 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
6 COSM151631645 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
7 COSM151254331 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
8 COSM111409195 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
9 COSM151575488 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
10 COSM138949448 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
11 COSM109750654 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
12 COSM140853916 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
13 COSM151530034 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
14 COSM151945900 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
15 COSM151429880 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
16 COSM112796684 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
17 COSM150583656 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45
18 COSM106832283 bone,NS,osteosarcoma,osteoblastic c.2920A>G p.T974A 19:11021836-11021836 45
19 COSM149479313 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 45

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:

36
# Name Kegg Source Accession
1 Osteoclast differentiation hsa04380

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A SQSTM1 NUP205
2
Show member pathways
12.37 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A
3 12.34 TRAF6 TNFSF11 TNFRSF11A B2M
4
Show member pathways
12.24 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A SQSTM1 ACP5
5 11.71 TNFSF11 PTH BGLAP
6 11.69 TRAF6 TNFSF11 TNFRSF11A
7 11.69 TNFSF11 TNFRSF11A PTH CSF1 ACP5
8 11.61 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A SQSTM1 CSF1
9
Show member pathways
11.57 TNFSF11 TNFRSF11B TNFRSF11A
10
Show member pathways
11.57 TRAF6 TNFSF11 TNFRSF11A SQSTM1
11 11.22 TNFSF11 PTH BGLAP
12 10.76 TNFSF11 TNFRSF11B TNFRSF11A ACP5
13 10.75 TNFSF11 TNFRSF11B TNFRSF11A PTH CALCA BGLAP
14 10.6 TNFSF11 TNFRSF11B PTH BGLAP

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 region GO:0005576 9.28 VCP TNFSF11 TNFRSF11B PTH HNRNPA2B1 CSF1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10 TRAF6 SQSTM1 OPTN DCSTAMP CSF1 B2M
2 response to drug GO:0042493 9.89 TNFRSF11B PTH BGLAP B2M
3 positive regulation of DNA-binding transcription factor activity GO:0051091 9.79 TRAF6 TNFSF11 TNFRSF11A
4 tumor necrosis factor-mediated signaling pathway GO:0033209 9.76 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A
5 monocyte chemotaxis GO:0002548 9.69 TNFSF11 TNFRSF11A CALCA
6 myeloid dendritic cell differentiation GO:0043011 9.62 TRAF6 DCSTAMP
7 mammary gland alveolus development GO:0060749 9.61 TNFSF11 TNFRSF11A
8 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.61 TRAF6 SQSTM1 OPTN
9 response to vitamin D GO:0033280 9.6 PTH BGLAP
10 response to inorganic substance GO:0010035 9.58 TNFRSF11B BGLAP
11 negative regulation of bone resorption GO:0045779 9.58 TNFRSF11B CALCA
12 regulation of osteoclast differentiation GO:0045670 9.57 TNFSF11 BGLAP
13 positive regulation of macrophage differentiation GO:0045651 9.56 CSF1 CALCA
14 positive regulation of monocyte differentiation GO:0045657 9.55 DCSTAMP CSF1
15 ossification GO:0001503 9.55 TRAF6 TNFSF11 TNFRSF11A BGLAP ACP5
16 positive regulation of T cell cytokine production GO:0002726 9.54 TRAF6 B2M
17 positive regulation of osteoclast differentiation GO:0045672 9.5 TRAF6 TNFSF11 CSF1
18 TNFSF11-mediated signaling pathway GO:0071847 9.49 TNFSF11 TNFRSF11A
19 osteoclast proliferation GO:0002158 9.48 TNFSF11 CSF1
20 positive regulation of bone resorption GO:0045780 9.43 TNFSF11 TNFRSF11A DCSTAMP
21 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.4 TNFSF11 TNFRSF11A
22 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.37 TNFSF11 TNFRSF11A
23 bone resorption GO:0045453 9.26 TRAF6 TNFSF11 PTH ACP5
24 osteoclast differentiation GO:0030316 9.02 TRAF6 TNFSF11 TNFRSF11A DCSTAMP CSF1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.23 VCP TRAF6 TNFSF11 SQSTM1 OPTN CSF1

Sources for Paget's Disease of Bone

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....