别名 CAFE-AU-LAIT SPOTS WITH PULMONIC STENOSIS、Cafe au Lait Spots with Pulmonic Stenosis、Cafe-au-Lait Spots with Pulmonic Stenosis + [104] |
简介 An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS). |
作用机制 MEK1抑制剂 [+1] |
在研机构 |
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2025-02-11 |
作用机制 MEK1抑制剂 [+1] |
在研机构 |
原研机构 |
在研适应症 |
非在研适应症 |
最高研发阶段批准上市 |
首次获批国家/地区 中国 |
首次获批日期2024-03-12 |
作用机制 MEK1抑制剂 [+1] |
非在研适应症 |
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2020-04-10 |
开始日期2025-07-01 |
申办/合作机构 |
开始日期2025-06-15 |
申办/合作机构 |
开始日期2025-06-01 |
申办/合作机构 |