Knowra Tuberous sclerosis Tuberous sclerosis Tuberous sclerosis complex (TSC) is a genetic disorder that causes noncancerous tumors in multiple organs. It can affect the brain, skin, kidneys, heart, lungs, and eyes, with features varying widely between people.
TSC1 : A gene encoding hamartin, a protein that helps regulate cell growth as part of the TSC protein complex. TSC1 mutations can impair the complex that restrains growth signaling in tuberous sclerosis.
Epilepsy in tuberous sclerosis : Seizure disorders associated with brain lesions and altered neural development in tuberous sclerosis. Seizures are a frequent early manifestation and can require prompt, specialized treatment.
Cortical tuber : A developmental brain lesion in the cerebral cortex, commonly found in tuberous sclerosis. Cortical tubers can disrupt neural circuits and contribute to seizures and developmental differences.
Von Hippel–Lindau disease : An inherited tumor-predisposition disorder associated with tumors and cysts in several organs. Like TSC, it affects multiple organs, but its characteristic lesions and pathway differ.
TSC2 : A gene encoding tuberin, a protein that helps regulate the mechanistic target of rapamycin pathway. TSC2 mutations are a common genetic cause of tuberous sclerosis and loss of growth control.
Renal angiomyolipoma : A usually benign kidney tumor composed of blood vessels, smooth muscle, and fat. These tumors can bleed or impair kidney function and are monitored in TSC.
Facial angiofibroma : A benign skin growth, often appearing as red or pink papules across the central face. Facial angiofibromas are a recognizable skin feature that can support a TSC diagnosis.
Neurofibromatosis type 1 : A genetic disorder causing café-au-lait spots, neurofibromas, and other manifestations through NF1 variants. Both disorders can involve skin and nervous-system findings, but their hallmark lesions differ.
TSC protein complex : A protein complex formed by hamartin, tuberin, and TBC1D7 that suppresses mTORC1 activity. This complex is the molecular link between TSC1/TSC2 mutations and excessive mTORC1 signaling.
Subependymal giant cell astrocytoma : A usually slow-growing brain tumor arising near the ventricles, associated with tuberous sclerosis. Its growth can obstruct cerebrospinal fluid flow, making brain imaging surveillance important.
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