PDB
MCID: PGT001
MIFTS: 60

Paget's Disease of Bone (PDB)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic 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
Paget Disease of Bone, Familial 52 29 6
Osseous Paget's Disease 12 25
Pdb 52 25
Familial Paget's Disease of Bone 12
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

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.

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 paget disease of bone and frontotemporal dementia, and has symptoms including back pain, sciatica and muscle cramp. 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 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 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.

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.

MedlinePlus : 42 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 Fractures (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

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 34.7 VCP SQSTM1
2 inclusion body myopathy with paget disease of bone and frontotemporal dementia 33.2 VCP SQSTM1 OPTN HNRNPA2B1
3 bone disease 32.1 TNFSF11 TNFRSF11B TNFRSF11A PTH CSF1 CALCA
4 mammary paget's disease 31.9 VCP TNFSF11 TNFRSF11B TNFRSF11A SQSTM1 PTH
5 paget disease of bone 2, early-onset 31.3 TNFRSF11A SQSTM1
6 familial expansile osteolysis 31.3 TNFSF11 TNFRSF11B TNFRSF11A SQSTM1
7 osteogenic sarcoma 31.3 TNFSF11 TNFRSF11B PTH BGLAP
8 bone inflammation disease 31.2 TNFSF11 TNFRSF11B ACP5
9 bone resorption disease 31.0 TNFSF11 TNFRSF11B TNFRSF11A PTH DCSTAMP CSF1
10 osteomalacia 31.0 TNFSF11 PTH CALCA BGLAP
11 hyperparathyroidism 31.0 TNFSF11 TNFRSF11B PTH CALCA BGLAP ACP5
12 primary hyperparathyroidism 30.9 TNFSF11 TNFRSF11B PTH CALCA BGLAP
13 giant cell tumor 30.9 ZNF687 TNFSF11 TNFRSF11B TNFRSF11A CSF1 CALCA
14 paget disease of bone 5, juvenile-onset 30.9 TNFSF11 TNFRSF11B TNFRSF11A CALCA
15 arthropathy 30.7 TNFSF11 TNFRSF11B TNFRSF11A B2M
16 osteomyelitis 30.7 TNFSF11 CALCA ACP5
17 aortic valve disease 2 30.7 TNFSF11 TNFRSF11B BGLAP
18 otosclerosis 30.7 TNFSF11 TNFRSF11B CALCA
19 parathyroid adenoma 30.6 PTH CALCA BGLAP
20 villonodular synovitis 30.6 TNFSF11 ACP5
21 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 30.6 VCP SQSTM1 OPTN HNRNPA2B1
22 osteonecrosis 30.5 TNFSF11 TNFRSF11B PTH BGLAP ACP5
23 synovitis 30.5 TNFSF11 TNFRSF11B ACP5
24 secondary hyperparathyroidism 30.5 TNFRSF11B PTH CALCA BGLAP B2M ACP5
25 bone giant cell tumor 30.4 ZNF687 TNFSF11 TNFRSF11B TNFRSF11A PTH CALCA
26 periodontitis 30.4 TNFSF11 TNFRSF11B TNFRSF11A BGLAP ACP5
27 hypercalcemia, infantile, 1 30.4 PTH CALCA
28 endosteal hyperostosis, autosomal dominant 30.4 TNFSF11 TNFRSF11B PTH ACP5
29 bone cancer 30.4 TNFSF11 TNFRSF11B TNFRSF11A CALCA
30 hypocalcemia, autosomal dominant 1 30.4 PTH CALCA BGLAP
31 sclerosteosis 30.4 TNFSF11 TNFRSF11B PTH BGLAP
32 hypoparathyroidism 30.4 PTH CALCA BGLAP
33 giant cell reparative granuloma 30.4 TNFSF11 TNFRSF11A PTH CALCA
34 pigmented villonodular synovitis 30.3 TNFSF11 TNFRSF11B CSF1 ACP5
35 osteitis fibrosa 30.2 PTH CALCA BGLAP B2M
36 pick disease of brain 30.2 VCP SQSTM1 OPTN
37 brittle bone disorder 30.2 TNFSF11 TNFRSF11B PTH CALCA BGLAP ACP5
38 hyperthyroidism 30.1 PTH CALCA BGLAP ACP5
39 end stage renal failure 30.1 PTH NUP205 CALCA BGLAP
40 arthritis 30.0 TNFSF11 TNFRSF11A PTH CSF1 ACP5
41 myeloma, multiple 30.0 TRAF6 TNFSF11 TNFRSF11B PTH CSF1 BGLAP
42 osteoporosis 29.9 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A PTH CSF1
43 renal osteodystrophy 29.9 TNFSF11 TNFRSF11B PTH CALCA BGLAP ACP5
44 rheumatoid arthritis 29.9 TNFSF11 TNFRSF11B TNFRSF11A PTH CSF1 BGLAP
45 chronic kidney disease 29.9 TNFSF11 TNFRSF11B PTH BGLAP B2M ACP5
46 osteopetrosis 29.8 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A CSF1 CALCA
47 paget disease of bone 4 12.6
48 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 12.6
49 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 12.6
50 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3 12.6

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 immune system MP:0005387 9.9 B2M CSF1 DCSTAMP OPTN PTH SQSTM1
2 limbs/digits/tail MP:0005371 9.5 CSF1 PTH TNFRSF11A TNFRSF11B TNFSF11 TRAF6
3 skeleton MP:0005390 9.28 CSF1 DCSTAMP PTH SQSTM1 TNFRSF11A TNFRSF11B

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
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
2
Zoledronic Acid Approved Phase 4 118072-93-8 68740
3
Pamidronate Approved Phase 4 40391-99-9 4674
4
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
6 Pharmaceutical Solutions Phase 4
7 Vitamins Phase 4
8 Trace Elements Phase 4
9 Micronutrients Phase 4
10 Nutrients Phase 4
11 Diphosphonates Phase 4
12 Ergocalciferols Phase 4
13 Calciferol Phase 4
14 Vitamin D2 Phase 4
15
Teriparatide Approved, Investigational Phase 3 52232-67-4 16133850
16
Etidronic acid Approved Phase 3 2809-21-4, 7414-83-7 3305
17
Risedronate Approved, Investigational Phase 3 105462-24-6 5245
18
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
19 Calcium, Dietary Phase 3
20 Hormones Phase 3
21 calcium channel blockers Phase 3
22 Fluorides
23 Protective Agents
24 Cariostatic Agents

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 Observational Period Completed NCT00051636 Phase 3 Zoledronic Acid;Risedronate;Placebo to Risedronate;Placebo to Zoledronic Acid
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 Observation Period Completed NCT00103740 Phase 3 zoledronic acid;placebo to zoledronic acid;Risedronate;Placebo to risedronate;Calcium and vitamin D supplements
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
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:

40
Bone, Testes, Skin, Spinal Cord, Brain, Bone Marrow, Prostate

Publications for Paget's Disease of Bone

Articles related to Paget's Disease of Bone:

(show top 50) (show all 1924)
# Title Authors PMID Year
1
Paget disease of bone in an elderly patient with chronic renal disease and weight loss: A case report. 61 42
31626101 2019
2
Uptake of 18F-Fluciclovine in Paget Disease. 42
31283597 2019
3
Osteoporosis Circumscripta on 68Ga-DOTATATE PET CT. 42
30985430 2019
4
[Is beta 2-microglobulin a marker of bone remodeling in Paget's disease of bone?]. 54 61
9476376 1997
5
Preventive Role of Vitamin D Supplementation for Acute Phase Reaction after Bisphosphonate Infusion in Paget's Disease. 61
31634910 2020
6
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
7
C9ORF72 hexanucleotide repeat expansion frequency in patients with Paget's disease of bone. 61
31530427 2020
8
History of etidronate. 61
31911206 2020
9
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
10
The loss of Profilin 1 causes early-onset Paget's disease of bone. 61
31991009 2020
11
Inhibiting Human Calcitonin Fibril Formation with Its Most Relevant Aggregation-Resistant Analog. 61
31692350 2019
12
Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected. 61
31848255 2019
13
Management of Hydrocephalus in Paget's Disease of Bone: Systematic Review and Illustrative Case. 61
31881339 2019
14
Clinical Guidelines on Paget's Disease of Bone. 61
31651997 2019
15
Paget's disease of bone: updates for clinicians. 61
31574000 2019
16
Management of Paget's disease of bone. 61
31848640 2019
17
Familial Paget's disease of bone: Long-term follow-up of unaffected relatives with and without Sequestosome 1 mutations. 61
31449886 2019
18
Phospholipase Cγ signaling in bone marrow stem cell and relevant natural compounds therapy. 61
31702518 2019
19
Osteonecrosis and spontaneous exfoliation of dental implants associated with oral bisphosphonate therapy: a case report. 61
31769879 2019
20
Long term effects on biochemical bone markers of a single infusion of zoledronic acid in Paget disease of bone. 61
31669119 2019
21
Vitamin D Status in Paget Disease of Bone and Efficacy-Safety Profile of Cholecalciferol Treatment in Pagetic Patients with Hypovitaminosis D. 61
31236621 2019
22
Insights into Design of p97-targeting Small Molecules from Structural Studies on p97 Functional Mechanism. 61
31584361 2019
23
Evaluation of a Patient With Temporomandibular Joint Disorders in Paget's Disease of Bone. 61
29361426 2019
24
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
25
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
26
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
27
VCP/p97 controls signals of the ERK1/2 pathway transmitted via the Shoc2 scaffolding complex: novel insights into IBMPFD pathology. 61
31091164 2019
28
Paget's Disease of Long Bones: Microstructural Analyses of Historical Bone Samples. 61
30850857 2019
29
Tartrate-resistant acid phosphatase 5b, but not periostin, is useful for assessing Paget's disease of bone. 61
31051316 2019
30
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
31
Cotton Wool Sign in Paget Disease of Bone. 61
30799354 2019
32
Positron emission tomography/computed tomography imaging appearance of benign and classic "do not touch" osseous lesions. 61
31396371 2019
33
Targeted sequencing of DCSTAMP in familial Paget's disease of bone. 61
30886882 2019
34
Primary intraosseous meningioma: clinical, histological, and differential diagnostic aspects. 61
31226688 2019
35
Pharmacology of bisphosphonates. 61
30650219 2019
36
Molecular insights into an ancient form of Paget's disease of bone. 61
31036632 2019
37
Paget's Disease of Bone. 61
30671590 2019
38
[Visna of Egill Skallagrimsson]. 61
31048556 2019
39
Disruption of valosin-containing protein activity causes cardiomyopathy and reveals pleiotropic functions in cardiac homeostasis. 61
31006653 2019
40
Rare Inherited forms of Paget's Disease and Related Syndromes. 61
30756140 2019
41
A Case of Rheumatoid Arthritis and Paget Disease of Bone. 61
31142731 2019
42
Evaluation of Bone Metabolism Biomarkers in Paget's Disease of Bone. 61
31384515 2019
43
Gene-environment interactions in Paget's disease of bone. 61
30594595 2019
44
A Clinical Guideline on Paget's Disease of bone-A Guideline or a Review? 61
31018029 2019
45
Diagnosis and Management of Paget's Disease of Bone in Adults: A Clinical Guideline. 61
30803025 2019
46
Chondrosarcoma as inaugural manifestation of monostotic Paget's disease of Bone. 61
31455754 2019
47
Long-term control of Paget's disease of bone with low-dose, once-weekly, oral bisphosphonate preparations, in a "real world" setting. 61
30406885 2019
48
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual. 61
29948344 2019
49
Hearing in Paget's disease of bone. 61
29880223 2019
50
A microscopic evaluation of Paget's disease of bone from a Byzantine monastic crypt in Jordan. 61
30154045 2019

Variations for Paget's Disease of Bone

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

6 (show top 50) (show all 94) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SQSTM1 NM_003900.5(SQSTM1):c.1224dup (p.Glu409Ter)duplication Pathogenic 8109 rs796051869 5:179263493-179263494 5:179836493-179836494
2 SQSTM1 NM_003900.5(SQSTM1):c.1165+1G>ASNV Pathogenic 8110 rs796051870 5:179260783-179260783 5:179833783-179833783
3 SQSTM1 NM_003900.5(SQSTM1):c.1132A>T (p.Lys378Ter)SNV Pathogenic 202210 rs796052213 5:179260749-179260749 5:179833749-179833749
4 SQSTM1 NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)SNV Conflicting interpretations of pathogenicity 8108 rs104893941 5:179263445-179263445 5:179836445-179836445
5 SQSTM1 NM_003900.5(SQSTM1):c.819A>G (p.Pro273=)SNV Conflicting interpretations of pathogenicity 353163 rs200388590 5:179260096-179260096 5:179833096-179833096
6 SQSTM1 NM_003900.5(SQSTM1):c.612A>G (p.Gly204=)SNV Conflicting interpretations of pathogenicity 353160 rs878982215 5:179251262-179251262 5:179824262-179824262
7 TNFRSF11A NM_003839.4(TNFRSF11A):c.284-5C>TSNV Conflicting interpretations of pathogenicity 327726 rs371545302 18:60021619-60021619 18:62354386-62354386
8 TNFRSF11A NM_003839.4(TNFRSF11A):c.543A>T (p.Arg181Ser)SNV Conflicting interpretations of pathogenicity 327732 rs762733251 18:60027209-60027209 18:62359976-62359976
9 TNFRSF11A NM_003839.4(TNFRSF11A):c.402G>A (p.Ala134=)SNV Conflicting interpretations of pathogenicity 327728 rs145242277 18:60021742-60021742 18:62354509-62354509
10 TNFRSF11A NM_003839.4(TNFRSF11A):c.535G>A (p.Gly179Arg)SNV Uncertain significance 327731 rs886054084 18:60027201-60027201 18:62359968-62359968
11 TNFRSF11A NM_003839.4(TNFRSF11A):c.*811T>CSNV Uncertain significance 327756 rs886054098 18:60053078-60053078 18:62385845-62385845
12 TNFRSF11A NM_003839.4(TNFRSF11A):c.*320dupduplication Uncertain significance 327742 rs552069161 18:60052576-60052577 18:62385343-62385344
13 TNFRSF11A NM_003839.4(TNFRSF11A):c.*454T>GSNV Uncertain significance 327746 rs886054090 18:60052721-60052721 18:62385488-62385488
14 TNFRSF11A NM_003839.4(TNFRSF11A):c.497C>T (p.Thr166Met)SNV Uncertain significance 327730 rs376096275 18:60025550-60025550 18:62358317-62358317
15 TNFRSF11A NM_003839.4(TNFRSF11A):c.555T>C (p.His185=)SNV Uncertain significance 327733 rs149842577 18:60027221-60027221 18:62359988-62359988
16 TNFRSF11A NM_003839.4(TNFRSF11A):c.954C>T (p.Tyr318=)SNV Uncertain significance 327734 rs200952751 18:60036104-60036104 18:62368871-62368871
17 TNFRSF11A NM_003839.4(TNFRSF11A):c.*379deldeletion Uncertain significance 327745 rs886054089 18:60052644-60052644 18:62385411-62385411
18 TNFRSF11A NM_003839.4(TNFRSF11A):c.*501G>ASNV Uncertain significance 327747 rs886054091 18:60052768-60052768 18:62385535-62385535
19 TNFRSF11A NM_003839.4(TNFRSF11A):c.*556A>GSNV Uncertain significance 327748 rs886054092 18:60052823-60052823 18:62385590-62385590
20 TNFRSF11A NM_003839.4(TNFRSF11A):c.*626_*627insCCinsertion Uncertain significance 327749 rs886054093 18:60052892-60052893 18:62385659-62385660
21 TNFRSF11A NM_003839.4(TNFRSF11A):c.*214G>ASNV Uncertain significance 327740 rs886054085 18:60052481-60052481 18:62385248-62385248
22 TNFRSF11A NM_003839.4(TNFRSF11A):c.999C>T (p.Thr333=)SNV Uncertain significance 327735 rs138204772 18:60036149-60036149 18:62368916-62368916
23 TNFRSF11A NM_003839.4(TNFRSF11A):c.*125T>CSNV Uncertain significance 327739 rs528975442 18:60052392-60052392 18:62385159-62385159
24 TNFRSF11A NM_003839.4(TNFRSF11A):c.*321deldeletion Uncertain significance 327744 rs886054088 18:60052588-60052588 18:62385355-62385355
25 TNFRSF11A NM_003839.4(TNFRSF11A):c.*705G>ASNV Uncertain significance 327754 rs886054096 18:60052972-60052972 18:62385739-62385739
26 TNFRSF11A NM_003839.4(TNFRSF11A):c.*938T>CSNV Uncertain significance 327757 rs565315471 18:60053205-60053205 18:62385972-62385972
27 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1057A>TSNV Uncertain significance 327758 rs886054099 18:60053324-60053324 18:62386091-62386091
28 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1231A>GSNV Uncertain significance 327759 rs562667048 18:60053498-60053498 18:62386265-62386265
29 TNFRSF11A NM_003839.4(TNFRSF11A):c.394G>A (p.Glu132Lys)SNV Uncertain significance 327727 rs867372893 18:60021734-60021734 18:62354501-62354501
30 TNFRSF11A NM_003839.4(TNFRSF11A):c.1618A>G (p.Met540Val)SNV Uncertain significance 327738 rs117028614 18:60052034-60052034 18:62384801-62384801
31 TNFRSF11A NM_003839.4(TNFRSF11A):c.*223G>ASNV Uncertain significance 327741 rs886054086 18:60052490-60052490 18:62385257-62385257
32 TNFRSF11A NM_003839.4(TNFRSF11A):c.*693T>GSNV Uncertain significance 327753 rs886054095 18:60052960-60052960 18:62385727-62385727
33 TNFRSF11A NM_003839.4(TNFRSF11A):c.*751C>TSNV Uncertain significance 327755 rs886054097 18:60053018-60053018 18:62385785-62385785
34 TNFRSF11A NM_001270949.1(TNFRSF11A):c.-49G>ASNV Uncertain significance 327723 rs886054081 18:59992537-59992537 18:62325304-62325304
35 TNFRSF11A NM_003839.4(TNFRSF11A):c.29C>T (p.Pro10Leu)SNV Uncertain significance 327724 rs886054082 18:59992614-59992614 18:62325381-62325381
36 TNFRSF11A NM_003839.4(TNFRSF11A):c.68G>A (p.Arg23Gln)SNV Uncertain significance 327725 rs886054083 18:59992653-59992653 18:62325420-62325420
37 SQSTM1 NM_003900.5(SQSTM1):c.687G>A (p.Ser229=)SNV Uncertain significance 353161 rs140341924 5:179252159-179252159 5:179825159-179825159
38 SQSTM1 NM_003900.5(SQSTM1):c.*83G>ASNV Uncertain significance 353168 rs155790 5:179263676-179263676 5:179836676-179836676
39 SQSTM1 NM_003900.5(SQSTM1):c.*725_*728dupduplication Uncertain significance 353177 rs144467418 5:179264316-179264317 5:179837316-179837317
40 SQSTM1 NM_003900.5(SQSTM1):c.*987G>ASNV Uncertain significance 353179 rs199727564 5:179264580-179264580 5:179837580-179837580
41 SQSTM1 NM_003900.5(SQSTM1):c.*1101G>ASNV Uncertain significance 353180 rs61742526 5:179264694-179264694 5:179837694-179837694
42 SQSTM1 NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg)SNV Uncertain significance 353154 rs759823891 5:179248020-179248020 5:179821020-179821020
43 SQSTM1 NM_003900.5(SQSTM1):c.165C>A (p.Phe55Leu)SNV Uncertain significance 353155 rs886060501 5:179248101-179248101 5:179821101-179821101
44 SQSTM1 NM_003900.5(SQSTM1):c.*243C>GSNV Uncertain significance 353171 rs886060504 5:179263836-179263836 5:179836836-179836836
45 SQSTM1 NM_003900.5(SQSTM1):c.*288C>TSNV Uncertain significance 353175 rs886060506 5:179263881-179263881 5:179836881-179836881
46 SQSTM1 NM_003900.5(SQSTM1):c.*1235T>CSNV Uncertain significance 353184 rs886060508 5:179264828-179264828 5:179837828-179837828
47 SQSTM1 NM_003900.5(SQSTM1):c.*1480C>TSNV Uncertain significance 353188 rs886060510 5:179265073-179265073 5:179838073-179838073
48 SQSTM1 NM_003900.5(SQSTM1):c.*1205T>CSNV Uncertain significance 353183 rs778576827 5:179264798-179264798 5:179837798-179837798
49 SQSTM1 NM_003900.5(SQSTM1):c.*1299_*1300GA[1]short repeat Uncertain significance 353185 rs745365806 5:179264891-179264892 5:179837891-179837892
50 SQSTM1 NM_003900.5(SQSTM1):c.*60C>TSNV Uncertain significance 353167 rs369609665 5:179263653-179263653 5:179836653-179836653

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

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 22)
# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-mediated signaling pathway GO:0033209 9.78 TNFSF11 TNFRSF11B TNFRSF11A
2 positive regulation of DNA-binding transcription factor activity GO:0051091 9.75 TRAF6 TNFSF11 TNFRSF11A
3 monocyte chemotaxis GO:0002548 9.65 TNFSF11 TNFRSF11A CALCA
4 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.6 TRAF6 SQSTM1
5 myeloid dendritic cell differentiation GO:0043011 9.59 TRAF6 DCSTAMP
6 response to vitamin D GO:0033280 9.58 PTH BGLAP
7 mammary gland alveolus development GO:0060749 9.57 TNFSF11 TNFRSF11A
8 regulation of osteoclast differentiation GO:0045670 9.56 TNFSF11 BGLAP
9 negative regulation of bone resorption GO:0045779 9.55 TNFRSF11B CALCA
10 ossification GO:0001503 9.55 TRAF6 TNFSF11 TNFRSF11A BGLAP ACP5
11 positive regulation of macrophage differentiation GO:0045651 9.54 CSF1 CALCA
12 response to inorganic substance GO:0010035 9.52 TNFRSF11B BGLAP
13 positive regulation of monocyte differentiation GO:0045657 9.51 DCSTAMP CSF1
14 positive regulation of osteoclast differentiation GO:0045672 9.5 TRAF6 TNFSF11 CSF1
15 positive regulation of T cell cytokine production GO:0002726 9.49 TRAF6 B2M
16 TNFSF11-mediated signaling pathway GO:0071847 9.46 TNFSF11 TNFRSF11A
17 osteoclast proliferation GO:0002158 9.43 TNFSF11 CSF1
18 positive regulation of bone resorption GO:0045780 9.43 TNFSF11 TNFRSF11A DCSTAMP
19 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.4 TNFSF11 TNFRSF11A
20 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.37 TNFSF11 TNFRSF11A
21 bone resorption GO:0045453 9.26 TRAF6 TNFSF11 PTH ACP5
22 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
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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
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