エントリ 名称 骨パジェット病;
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
階層分類 ICD-11 による疾患分類 [BR:jp08403 ]jp08402 ] BRITE hierarchy パスウェイ hsa04060 Cytokine-cytokine receptor interaction
ネットワーク 病因遺伝子 治療薬 リンク 文献 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 文献 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 文献 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 文献 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 文献 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 LinkDB All DBs
