别名 CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA、CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA、Calcinosis, Tumoral, With Hyperphosphatemia + [24] |
简介 An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3, FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone. |
作用机制 Phosphates 调节剂 |
原研机构 |
在研适应症 |
最高研发阶段批准上市 |
首次获批国家/地区 日本 |
首次获批日期2012-03-30 |
开始日期2008-03-01 |
申办/合作机构 |
开始日期2001-11-19 |