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schwannomatosis
Schwannomatosis
Schwannomatosis is caused by germline SMARCB1 (~40%) or LZTR1 (~30%) mutations; multiple peripheral schwannomas WITHOUT bilateral vestibular schwannomas; chronic pain is the hallmark; distinct from NF2; treatment: surgical resection for symptomatic tumors.
Entry Metadata
| Field | Value |
|---|---|
| ID | schwannomatosis |
| Name | Schwannomatosis |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |
Cross-Atlas Connections
connects-toLztr1
connects-toSmarcb1
connects-toNeurofibromatosis Type 2
connects-toAtypical Teratoid Rhabdoid Tumor
connects-toNf2
connects-toNoonan Syndrome
connects-toPeripheral Nerve
connects-toMpnst
connects-toNeurofibromatosis Type 1
connects-toNervous System
connects-toMeningioma
connects-toNeuropathic Pain
connects-toSynovial Sarcoma
connects-toChordoma
connects-toLi Fraumeni Syndrome
connects-toEwing Sarcoma
connects-toNeuron
connects-toBrain
connects-toFibroblast
connects-toSkin
connects-toPhoton
connects-toMusculoskeletal System
connects-toErk1 2
connects-toOligodendrocyte
connects-toMtor
connects-toKras
connects-toYap1
connects-toMacrophage
connects-toTnf Alpha
connects-toPdgf
connects-toMast Cell
connects-toSodium
connects-toEndothelial Cell
connects-toSynapse
connects-toElectron
connects-toSubstance P
connects-toCalcium
connects-toCollagen
connects-toAkt
connects-toPotassium
connects-toAntibody
connects-toSerotonin
connects-toLarge Intestine
connects-toEzh2
connects-toReproductive System
connects-toRegulatory T Cell
connects-toGlutamate
connects-toBradykinin
connects-toVegf
connects-toStat3
connects-toVenous Thromboembolism
connects-toSepsis
connects-toMajor Depressive Disorder
connects-toOpioid Use Disorder
connects-toFibromyalgia
connects-toInsomnia Disorder
connects-toGeneralized Anxiety Disorder
connects-toOsteoporosis
connects-toWound Healing
connects-toDigestive System
connects-toCkd
connects-toIntegumentary System
connects-toEndocrine System
connects-toRespiratory System
connects-toRenal System
connects-toCardiovascular System
connects-toImmune System
connects-toIbuprofen
connects-toCarney Complex
connects-toCurcumin
connects-toTargeted Therapy
connects-toDexamethasone
connects-toTuberous Sclerosis Complex
connects-toRenal Cell Carcinoma
connects-toMesothelioma
connects-toGuillain Barre
connects-toNeuropathic Pain
connects-toAxonal Transport
connects-toFibrosis
connects-toOvarian Clear Cell Carcinoma
connects-toCidp
connects-toNeuromuscular Junction
connects-toProstaglandins
connects-toCdk4 6
connects-toNotch
connects-toCyclin D1
connects-toMyc
connects-toHif 1Alpha
connects-toNtrk
connects-toCgrp
connects-toCcl2
connects-toKit
connects-toCxcl12
connects-toSrc Kinase
connects-toEgfr
connects-toPik3Ca
connects-toIl 6
connects-toE2F1
connects-toPten
connects-toTgf Beta
connects-toRb1
connects-toJak1 2
connects-toTlr4
connects-toGalectin 3
connects-toSmad4
connects-toCgas Sting
connects-toStat1
connects-toFoxo
connects-toPerforin
connects-toGsk 3B
connects-toMdm2
connects-toS100A8 A9
connects-toAutophagy
connects-toArid1A
connects-toDnmt3A
connects-toAmpk
connects-toCcr5
connects-toIl 1B
connects-toIl 33
connects-toIl 17A
connects-toComplement C3
connects-toMu Opioid Receptor
connects-toCalcium
connects-toAxl Receptor
connects-toNitric Oxide
connects-toMhc Class Ii
connects-toEstrogen
connects-toT Cytotoxic Cell
connects-toIl 10
connects-toHistamine
connects-toIl 4
connects-toIl 13
connects-toXanthine Oxidase
connects-toMagnesium
connects-toProton
connects-toIl 5
connects-toLeptin
connects-toAdiponectin
connects-toResistin
connects-toType I Interferon
connects-toIfn Gamma
connects-toIl 12
connects-toIl 23
connects-toIge
connects-toDendritic Cell
connects-toT Helper Cell
connects-toPlasma Cell
connects-toNatural Killer Cell
connects-toB Cell
connects-toComplement C3
connects-toC5Ar1
connects-toTslp
connects-toC1 Esterase Inhibitor
connects-toErythropoietin
connects-toPeriostin
connects-toComplement C5
connects-toFactor H
connects-toMelatonin
connects-toTestosterone
connects-toProlactin
connects-toOxytocin
connects-toVasopressin
connects-toSelenium
connects-toIodine
connects-toCopper
connects-toZinc
connects-toIron
connects-toPhosphorus
connects-toChloride
connects-toCarbon
connects-toHydrogen
connects-toNitrogen
connects-toOxygen
connects-toSulfur
connects-toPd 1
connects-toGlp 1
connects-toAngiotensin Ii
connects-toWnt Beta Catenin
connects-toRankl
connects-toIl 2
connects-toFibronectin
connects-toIgf 1
connects-toActivin A
connects-toCalcitonin
connects-toInsulin Receptor
connects-toAldosterone
connects-toAndrogen Receptor
connects-toNorepinephrine
connects-toAdrenomedullin
connects-toBdnf
connects-toOsteopontin
connects-toFgfr
connects-toEpinephrine
Sources
- Merker VL, Esparza S, Smith MJ, Stemmer-Rachamimov A, Plotkin SR. Clinical features of schwannomatosis: a retrospective analysis of 87 patients. Oncologist. 2012;17(10):1317-1322. · PubMed 22927469
- Piotrowski A, Xie J, Liu YF, et al. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet. 2014;46(2):182-187. · PubMed 24362817