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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
connects-toSpred1
connects-toNf1
connects-toKras
connects-toMpnst
connects-toPeripheral Nerve
connects-toMast Cell
connects-toGist
connects-toNeurofibromatosis Type 2
connects-toSkin
connects-toBrain
connects-toPheochromocytoma Paraganglioma
connects-toNoonan Syndrome
connects-toBreast Cancer
connects-toIdh Mutant Glioma
connects-toRhabdomyosarcoma
connects-toGorlin Syndrome
connects-toNeuron
connects-toGlioblastoma
connects-toEye
connects-toNervous System
connects-toIntegumentary System
connects-toMusculoskeletal System
connects-toHypertension
connects-toAstrocyte
connects-toErk1 2
connects-toMtor
connects-toOsteoblast
connects-toGrowth Hormone
connects-toMacrophage
connects-toAkt
connects-toAdrenal Gland
connects-toCopper
connects-toKidney
connects-toEndothelial Cell
connects-toPhoton
connects-toFibroblast
connects-toHeart
connects-toElectron
connects-toBone Marrow
connects-toLung
connects-toAntibody
connects-toLarge Intestine
connects-toVitamin D
connects-toReproductive System
connects-toAttention Deficit Hyperactivity Disorder
connects-toOsteoclast
connects-toCmml
connects-toStroke
connects-toAutism Spectrum Disorder
connects-toEpilepsy
connects-toCdkn2A
connects-toNeuropathic Pain
connects-toNf Kb
connects-toMajor Depressive Disorder
connects-toVenous Thromboembolism
connects-toOsteoporosis
connects-toAml
connects-toMelanoma
connects-toNeuroendocrine Tumors
connects-toWound Healing
connects-toGeneralized Anxiety Disorder
connects-toEndocrine System
connects-toCardiovascular System
connects-toDigestive System
connects-toRenal System
connects-toRespiratory System
connects-toImmune System
connects-toTargeted Therapy
connects-toTuberous Sclerosis Complex
connects-toSchwannomatosis
connects-toCancer Chemotherapy
connects-toCortical Bone
connects-toMen1 Syndrome
connects-toArterial Wall
connects-toNeuroblastoma
connects-toLi Fraumeni Syndrome
connects-toHippocampus
connects-toDiffuse Midline Glioma
connects-toMyocardium
connects-toLynch Syndrome
connects-toVhl Disease
connects-toSynapse
connects-toBraf
connects-toCdk4 6
connects-toPdgf
connects-toMyc
connects-toVegf
connects-toHif 1Alpha
connects-toKit
connects-toGaba
connects-toRankl
connects-toCcl2
connects-toCxcl12
connects-toSubstance P
connects-toNorepinephrine
connects-toBdnf
connects-toDnmt3A
connects-toPik3Ca
connects-toP53
connects-toE2F1
connects-toRb1
connects-toMdm2
connects-toEzh2
connects-toGalectin 3
connects-toTgf Beta
connects-toStat3
connects-toStat1
connects-toCgas Sting
connects-toFoxo
connects-toGsk 3B
connects-toSrc Kinase
connects-toS100A8 A9
connects-toPerforin
connects-toAutophagy
connects-toAmpk
connects-toCcr5
connects-toArid1A
connects-toIl 6
connects-toIl 1B
connects-toIl 33
connects-toIl 17A
connects-toPtpn11
connects-toLztr1
connects-toNitric Oxide
connects-toEstrogen
connects-toProgesterone
connects-toAngiotensin Ii
connects-toCollagen
connects-toIl 10
connects-toTroponin Complex
connects-toHistamine
connects-toIl 4
connects-toProstaglandins
connects-toIl 13
connects-toMast Cell
connects-toGist
connects-toLeptin
connects-toAdiponectin
connects-toResistin
connects-toType I Interferon
connects-toIfn Gamma
connects-toIl 12
connects-toIl 5
connects-toIl 23
connects-toIge
connects-toT Cytotoxic Cell
connects-toT Helper Cell
connects-toDendritic Cell
connects-toB Cell
connects-toNatural Killer Cell
connects-toComplement C3
connects-toTslp
connects-toBradykinin
connects-toPeriostin
connects-toC1 Esterase Inhibitor
connects-toErythropoietin
connects-toComplement C5
connects-toMelatonin
connects-toTestosterone
connects-toSerotonin
connects-toProlactin
connects-toOxytocin
connects-toVasopressin
connects-toSelenium
connects-toIodine
connects-toSodium
connects-toMagnesium
connects-toZinc
connects-toPotassium
connects-toCalcium
connects-toCarbon
connects-toChloride
connects-toHydrogen
connects-toIron
connects-toNitrogen
connects-toPd 1
connects-toGlp 1
connects-toWnt Beta Catenin
connects-toSmad4
connects-toIl 2
connects-toFibronectin
connects-toNotch
connects-toIgf 1
connects-toActivin A
connects-toCgrp
connects-toCalcitonin
connects-toInsulin Receptor
connects-toAldosterone
connects-toAndrogen Receptor
connects-toNorepinephrine
connects-toAdrenomedullin
connects-toOsteopontin
connects-toFgfr
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