Entry |
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Name |
Paget disease of bone |
Description |
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.
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Category |
Musculoskeletal disease
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Brite |
Human diseases [BR:br08402]
Musculoskeletal diseases
Skeletal diseases
H00437 Paget disease of bone
Human diseases in ICD-11 classification [BR:br08403]
15 Diseases of the musculoskeletal system or connective tissue
Osteopathies or chondropathies
FB85 Paget disease of bone
H00437 Paget disease of bone
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Pathway |
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Gene |
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Drug |
Calcitonin salmon [DR: D00249]
Etidronate disodium [DR: D00314]
Pamidronate disodium [DR: D00941]
Alendronate sodium [DR: D00939]
Risedronate sodium [DR: D00942]
Sodium risedronate hydrate [DR: D03234]
Zoledronic acid [DR: D01968]
Risedronate sodium monohydrate [DR: D11570]
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Other DBs |
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Reference |
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Authors |
Whyte MP |
Title |
Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling. |
Journal |
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Reference |
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Authors |
Nakatsuka K, Nishizawa Y, Ralston SH |
Title |
Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene. |
Journal |
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Reference |
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Authors |
Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM |
Title |
Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. |
Journal |
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Reference |
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Authors |
Palenzuela L, Vives-Bauza C, Fernandez-Cadenas I, Meseguer A, Font N, Sarret E, Schwartz S, Andreu AL |
Title |
Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene. |
Journal |
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Reference |
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Authors |
Whyte MP, Hughes AE |
Title |
Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis. |
Journal |
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Reference |
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Authors |
Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAlister WH, Mumm S |
Title |
Osteoprotegerin deficiency and juvenile Paget's disease. |
Journal |
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Reference |
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Authors |
Ralston SH |
Title |
Juvenile Paget's disease, familial expansile osteolysis and other genetic osteolytic disorders. |
Journal |
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Reference |
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Authors |
Brandi ML |
Title |
Current treatment approaches for Paget's Disease of Bone. |
Journal |
Discov Med 10:209-12 (2010) |
Reference |
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Authors |
Carey PO, Lippert MC |
Title |
Treatment of painful prostatic bone metastases with oral etidronate disodium. |
Journal |
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Reference |
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Authors |
Divisato G, Formicola D, Esposito T, Merlotti D, Pazzaglia L, Del Fattore A, Siris E, Orcel P, Brown JP, Nuti R, Strazzullo P, Benassi MS, Cancela ML, Michou L, Rendina D, Gennari L, Gianfrancesco F |
Title |
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor. |
Journal |
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