tuberous sclerosis
MeSH: D014402ORPHA: 805
Overview
rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with tuberous sclerosis, sourced from HPO and Orphanet clinical annotations.
Abnormality of the kidneyAtypical behaviorSeizureCortical dysplasiaSubependymal nodulesCortical tubersHypomelanotic maculeGeneralized abnormality of skinRenal cystDepressionAutismAggressive behaviorAutistic behaviorHyperactivityIntellectual disabilitySpecific learning disabilityStatus epilepticusSleep disturbanceFocal-onset seizureConfetti-like hypopigmented maculesRepetitive compulsive behaviorRetinal hamartomaShagreen patchCardiac rhabdomyomaAngiofibromasEpileptic spasmAbnormal social behaviorInfantile spasmsChronic kidney diseaseNeurodevelopmental delayPulmonary lymphangiomyomatosisChorioretinal hypopigmentationImpulsivitySelf-injurious behaviorSkin plaqueRenal insufficiencyAnxietyHypertensionHepatic cystsRespiratory distressHemoptysisPoor speechRenal angiomyolipomaAttention deficit hyperactivity disorderSubependymal giant-cell astrocytomaNoncommunicating hydrocephalusRespiratory tract infectionUngual fibromaEpidermoid cystPolycystic kidney dysplasiaPheochromocytomaRespiratory failurePituitary adenomaParathyroid adenomaStage 5 chronic kidney diseaseAortic aneurysmRenal cell carcinomaParathyroid hyperplasiaInternal hemorrhageRetinal astrocytic hamartomaPancreatic endocrine tumorCarcinoid tumor
Classification & Codes
MeSH Code
D014402Orphanet Code
ORPHA:805tuberous sclerosis
| MeSH | D014402 |
| Orphanet | ORPHA:805 |
| Treatments | 0 drug(s) |
| Symptoms on record | 62 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO