| H00437 | |
| H number | H00437 |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| 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] |
| Comment | - |
| Other DBs | ICD-11: FB85 ICD-10: M88 MeSH: D010001 OMIM: 602080 167250 239000 616833 |
| Reference | PMID:16831914 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 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 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 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 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 |