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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
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