KEGG   DISEASE: Paget disease of boneHelp
Entry
H00437                      Disease                                

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.
Category
Musculoskeletal disease
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
BRITE hierarchy
Pathway
hsa04380  Osteoclast differentiation
Gene
(PDB2) TNFRSF11A [HSA:8792] [KO:K05147]
(PDB3) SQSTM1 [HSA:8878] [KO:K14381]
(PDB5) TNFRSF11B [HSA:4982] [KO:K05148]
(PDB6) ZNF687 [HSA:57592]
Drug
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]
Other DBs
ICD-11: FB85
ICD-10: M88
MeSH: D010001
OMIM: 167250 602080 239000 616833
Reference
  Authors
Whyte MP
  Title
Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling.
  Journal
Ann N Y Acad Sci 1068:143-64 (2006)
DOI:10.1196/annals.1346.016
Reference
  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
J Bone Miner Res 18:1381-5 (2003)
DOI:10.1359/jbmr.2003.18.8.1381
Reference
  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
Nat Genet 24:45-8 (2000)
DOI:10.1038/71667
Reference
  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
J Med Genet 39:E67 (2002)
DOI:10.1136/jmg.39.10.E67
Reference
  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
J Bone Miner Res 17:26-9 (2002)
DOI:10.1359/jbmr.2002.17.1.26
Reference
  Authors
Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAlister WH, Mumm S
  Title
Osteoprotegerin deficiency and juvenile Paget's disease.
  Journal
N Engl J Med 347:175-84 (2002)
DOI:10.1056/NEJMoa013096
Reference
  Authors
Ralston SH
  Title
Juvenile Paget's disease, familial expansile osteolysis and other genetic osteolytic disorders.
  Journal
Best Pract Res Clin Rheumatol 22:101-11 (2008)
DOI:10.1016/j.berh.2007.11.005
Reference
PMID:20875342 (drug)
  Authors
Brandi ML
  Title
Current treatment approaches for Paget's Disease of Bone.
  Journal
Discov Med 10:209-12 (2010)
Reference
PMID:2460988
  Authors
Carey PO, Lippert MC
  Title
Treatment of painful prostatic bone metastases with oral etidronate disodium.
  Journal
Urology 32:403-7 (1988)
DOI:10.1016/0090-4295(88)90410-4
Reference
  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
Am J Hum Genet 98:275-86 (2016)
DOI:10.1016/j.ajhg.2015.12.016

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