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tuberous-sclerosis-complex
Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is caused by germline TSC1 or TSC2 mutations; mTOR hyperactivation → hamartomas in brain (cortical tubers, SEGA), kidney (angiomyolipoma), lung (LAM), skin; everolimus/sirolimus FDA-approved; epilepsy and intellectual disability are common.
Entry Metadata
| Field | Value |
|---|---|
| ID | tuberous-sclerosis-complex |
| Name | Tuberous Sclerosis Complex |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |
Cross-Atlas Connections
connects-toTsc1 Tsc2
connects-toMtor
connects-toAmpk
connects-toRenal Cell Carcinoma
connects-toEpilepsy
connects-toAutism Spectrum Disorder
connects-toPik3Ca
connects-toVhl Disease
connects-toSkin
connects-toBrain
connects-toNeurofibromatosis Type 1
connects-toCardiomyocyte
connects-toSmooth Muscle Cell
connects-toCowden Syndrome
connects-toAstrocyte
connects-toGorlin Syndrome
connects-toNeuron
connects-toKidney
connects-toHeart
connects-toLung
connects-toEye
connects-toAttention Deficit Hyperactivity Disorder
connects-toVegf
connects-toFibroblast
connects-toBirt Hogg Dube Syndrome
connects-toCollagen
connects-toGlutamate
connects-toAutophagy
connects-toCalcium
connects-toSynapse
connects-toAkt
connects-toPhosphorus
connects-toAdipocyte
connects-toLiver
connects-toPhoton
connects-toPancreas
connects-toOligodendrocyte
connects-toEndothelial Cell
connects-toLarge Intestine
connects-toElectron
connects-toAntibody
connects-toReproductive System
connects-toNeutrophil
connects-toGaba
connects-toMicroglia
connects-toGeneralized Anxiety Disorder
connects-toEstrogen
connects-toHif 1Alpha
connects-toMast Cell
connects-toStat3
connects-toNf Kb
connects-toMajor Depressive Disorder
connects-toCkd
connects-toHypertension
connects-toPneumocystis Jirovecii
connects-toAspergillus Fumigatus
connects-toType 2 Diabetes
connects-toStroke
connects-toIntegumentary System
connects-toRespiratory System
connects-toWound Healing
connects-toNervous System
connects-toCardiovascular System
connects-toDigestive System
connects-toLymphatic System
connects-toMusculoskeletal System
connects-toEndocrine System
connects-toTargeted Therapy
connects-toMen1 Syndrome
connects-toCarney Complex
connects-toNeurofibromatosis Type 2
connects-toLung Slice
connects-toHippocampus
connects-toMyocardium
connects-toPulmonary Arterial Hypertension
connects-toPeutz Jeghers Syndrome
connects-toNeuroendocrine Tumors
connects-toGlomerulus
connects-toHepatic Lobule
connects-toCardiac Conduction System
connects-toArterial Wall
connects-toCortical Bone
connects-toCyclin D1
connects-toErk1 2
connects-toType Ii Pneumocyte
connects-toMyc
connects-toIgf 1
connects-toPdgf
connects-toBdnf
connects-toCdkn1B
connects-toTgf Beta
connects-toCalcineurin
connects-toAngiopoietin
connects-toCaspase 3
connects-toPten
connects-toNotch
connects-toCcl2
connects-toGsk 3B
connects-toE2F1
connects-toNfe2L2
connects-toRb1
connects-toJak1 2
connects-toKras
connects-toCgas Sting
connects-toStat1
connects-toSmad4
connects-toFoxo
connects-toCdk4 6
connects-toGalectin 3
connects-toMdm2
connects-toS100A8 A9
connects-toSrc Kinase
connects-toDnmt3A
connects-toPerforin
connects-toArid1A
connects-toCcr5
connects-toIl 6
connects-toCxcl12
connects-toIl 1B
connects-toIl 33
connects-toIl 17A
connects-toTroponin Complex
connects-toActh
connects-toMelatonin
connects-toProgesterone
connects-toInsulin
connects-toHemoglobin
connects-toNitric Oxide
connects-toIl 10
connects-toXanthine Oxidase
connects-toIl 4
connects-toCholesterol
connects-toLeptin
connects-toIron
connects-toIl 13
connects-toAdiponectin
connects-toResistin
connects-toEye
connects-toRenal Cell Carcinoma
connects-toType I Interferon
connects-toIfn Gamma
connects-toIl 12
connects-toIl 5
connects-toIl 23
connects-toIge
connects-toT Helper Cell
connects-toT Cytotoxic Cell
connects-toDendritic Cell
connects-toMacrophage
connects-toComplement C3
connects-toC5Ar1
connects-toTslp
connects-toHistamine
connects-toPeriostin
connects-toBradykinin
connects-toC1 Esterase Inhibitor
connects-toErythropoietin
connects-toTestosterone
connects-toSerotonin
connects-toProlactin
connects-toOxytocin
connects-toVasopressin
connects-toSelenium
connects-toIodine
connects-toSodium
connects-toMagnesium
connects-toCopper
connects-toZinc
connects-toPotassium
connects-toCarbon
connects-toChloride
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-toActivin A
connects-toCgrp
connects-toCalcitonin
connects-toSubstance P
connects-toInsulin Receptor
connects-toAldosterone
connects-toAndrogen Receptor
connects-toNorepinephrine
connects-toAdrenomedullin
connects-toOsteopontin
connects-toFgfr
Sources
- Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345-1356. · PubMed 17005952
- Northrup H, Krueger DA. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49(4):243-254. · PubMed 24053982