tuberous sclerosis complex
E939680
Tuberous sclerosis complex is a genetic disorder characterized by benign tumors in multiple organs, often leading to epilepsy, developmental delays, and skin abnormalities.
Statements (53)
| Predicate | Object |
|---|---|
| instanceOf |
autosomal dominant disease
ⓘ
genetic disorder ⓘ multisystem disease ⓘ neurocutaneous syndrome ⓘ |
| affectsOrgan |
brain
ⓘ
eyes ⓘ heart ⓘ kidneys ⓘ lungs ⓘ skin ⓘ |
| ageOfOnset | childhood ⓘ |
| associatedWith |
behavioral problems
ⓘ
epilepsy ⓘ infantile spasms ⓘ psychiatric disorders ⓘ |
| canOccurAs | de novo mutation ⓘ |
| causedByMutationIn |
TSC1 gene
NERFINISHED
ⓘ
TSC2 gene NERFINISHED ⓘ |
| characterizedBy |
autism spectrum disorder features
ⓘ
benign tumors in multiple organs ⓘ cardiac rhabdomyomas ⓘ cortical tubers in the brain ⓘ developmental delay ⓘ epileptic seizures ⓘ intellectual disability ⓘ pulmonary lymphangioleiomyomatosis ⓘ renal angiomyolipomas ⓘ retinal hamartomas ⓘ skin abnormalities ⓘ subependymal giant cell astrocytoma ⓘ subependymal nodules ⓘ |
| diagnosedBy |
brain MRI
ⓘ
clinical criteria ⓘ echocardiography ⓘ genetic testing ⓘ renal imaging ⓘ |
| epidemiology |
affects both sexes
ⓘ
occurs worldwide ⓘ rare disease ⓘ |
| hasCutaneousFeature |
confetti skin lesions
ⓘ
facial angiofibromas ⓘ hypomelanotic macules ⓘ periungual fibromas ⓘ shagreen patches ⓘ |
| hasSynonym |
Bourneville disease
NERFINISHED
ⓘ
Bourneville tuberous sclerosis NERFINISHED ⓘ TSC NERFINISHED ⓘ |
| inheritancePattern | autosomal dominant ⓘ |
| molecularPathway | mTOR signaling pathway NERFINISHED ⓘ |
| requires | lifelong surveillance ⓘ |
| treatedWith |
antiepileptic drugs
ⓘ
mTOR inhibitors ⓘ surgical resection of tumors ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.