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neurofibromatosis-type-1
Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is caused by germline NF1 mutations; café-au-lait macules, neurofibromas, Lisch nodules, optic pathway gliomas; ~10% lifetime MPNST risk; 1/3000; selumetinib FDA-approved for NF1-associated plexiform neurofibromas in children (2020).
Entry Metadata
| Field | Value |
|---|---|
| ID | neurofibromatosis-type-1 |
| Name | Neurofibromatosis Type 1 |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |
Cross-Atlas Connections
Sources
- Gutmann DH, Ferner RE, Listernick RH, et al. Neurofibromatosis type 1. Nat Rev Dis Primers. 2017;3:17004. · PubMed 28230061
- Dombi E, Baldwin A, Marcus LJ, et al. Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas. N Engl J Med. 2016;375(26):2550-2560. · PubMed 28029918