别名 PIK3CA related overgrowth spectrum、PIK3CA related overgrowth syndrome、PIK3CA-Related Overgrowth Spectrum + [8] |
简介 A group of rare disorders that are usually caused by somatic mutations in the PIK3CA gene, but may rarely be caused by de novo germline mutations. These disorders are typically characterized by sporadic overgrowth of parts of the body, intellectual disability, low muscle tone, and vascular malformations with congenital or early childhood onset. Representative examples include: fibroadipose hyperplasia, CLOVES syndrome, megalencephaly-capillary malformation syndrome, hemihyperplasia-multiple lipomatosis syndrome, hemimegalencephaly, and facial infiltrating lipomatosis. |
靶点 |
作用机制 PI3Kα抑制剂 |
在研适应症 |
最高研发阶段批准上市 |
首次获批国家/地区 美国 |
首次获批日期2019-05-24 |
靶点 |
作用机制 PI3Kα抑制剂 |
在研机构 |
原研机构 |
最高研发阶段临床2期 |
首次获批国家/地区- |
首次获批日期1800-01-20 |
开始日期2024-04-01 |
申办/合作机构 |
开始日期2023-02-21 |
开始日期2022-07-01 |
申办/合作机构 Novartis Pharma AG [+2] |