| H00437 | |
| H番号 | H00437 |
| 名称 | 骨パジェット病; 骨ページェット病 |
| 概要 | 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. |
| カテゴリ | 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | (PDB2) TNFRSF11A [HSA:8792] [KO:K05147] (PDB3) SQSTM1 [HSA:8878] [KO:K14381] (PDB5) TNFRSF11B [HSA:4982] [KO:K05148] (PDB6) ZNF687 [HSA:57592] [KO:K24375] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | エルカトニン [DR:D03287] エチドロン酸二ナトリウム [DR:D00314] リセドロン酸ナトリウム水和物 [DR:D03234] |
| コメント | - |
| リンク | ICD-11: FB85 ICD-10: M88 MeSH: D010001 OMIM: 602080 167250 239000 616833 |
| 文献 | PMID:16831914 著者 Whyte MP タイトル Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling. 雑誌 Ann N Y Acad Sci 1068:143-64 (2006) DOI:10.1196/annals.1346.016 PMID:10615125 (TNFRSF11A) 著者 Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM タイトル Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. 雑誌 Nat Genet 24:45-8 (2000) DOI:10.1038/71667 PMID:11992264 (SQSTM1) 著者 Laurin N, Brown JP, Morissette J, Raymond V タイトル Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. 雑誌 Am J Hum Genet 70:1582-8 (2002) DOI:10.1086/340731 PMID:12124406 (TNFRSF11B) 著者 Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAlister WH, Mumm S タイトル Osteoprotegerin deficiency and juvenile Paget's disease. 雑誌 N Engl J Med 347:175-84 (2002) DOI:10.1056/NEJMoa013096 PMID:26849110 (ZNF687) 著者 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 タイトル ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor. 雑誌 Am J Hum Genet 98:275-86 (2016) DOI:10.1016/j.ajhg.2015.12.016 |