KEGG   DISEASE: Paget disease of bone
Entry
H00437                      Disease                                
Name
Paget disease of bone
Description
Paget disease of bone (PDB) 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
Related
pathway
hsa04380  Osteoclast differentiation
hsa04060  Cytokine-cytokine receptor interaction
Gene
(PDB2) TNFRSF11A [HSA:8792] [KO:K05147]
(PDB3) SQSTM1 [HSA:8878] [KO:K14381]
(PDB5) TNFRSF11B [HSA:4982] [KO:K05148]
(PDB6) ZNF687 [HSA:57592] [KO:K24375]
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]
Risedronate sodium monohydrate [DR:D11570]
Zoledronic acid [DR:D01968]
Other DBs
ICD-11: FB85
ICD-10: M88
MeSH: D010001
OMIM: 602080 167250 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
PMID:10615125 (TNFRSF11A)
  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
PMID:11992264 (SQSTM1)
  Authors
Laurin N, Brown JP, Morissette J, Raymond V
  Title
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.
  Journal
Am J Hum Genet 70:1582-8 (2002)
DOI:10.1086/340731
Reference
PMID:12124406 (TNFRSF11B)
  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
PMID:26849110 (ZNF687)
  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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