Tuberous Sclerosis Complex

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Tuberous Sclerosis Complex (TSC) is a genetic disorder characterized by the growth of benign tumors in multiple organ systems, including the brain, kidneys, heart, lungs, eyes, and skin. The condition affects approximately 1 in 6,000 individuals and is highly variable in its presentation—some individuals have mild symptoms while others experience severe, life-altering complications.

Neurological manifestations are common and often the most significant. Brain lesions called cortical tubers and subependymal nodules can cause seizures (occurring in about 85% of patients), intellectual disability, and autism spectrum disorder. A potentially dangerous brain tumor called subependymal giant cell astrocytoma (SEGA) can develop and block cerebrospinal fluid flow, requiring surgical intervention.

Skin findings are present in nearly all affected individuals and include hypomelanotic macules (ash-leaf spots), facial angiofibromas (small red bumps), shagreen patches (textured skin patches), and fibrous plaques. Kidney tumors called angiomyolipomas are common and can cause bleeding or kidney failure if they grow large. Cardiac rhabdomyomas often present in infancy but typically regress over time. Lung involvement (LAM) primarily affects adult women.

TSC is caused by mutations in either the TSC1 or TSC2 gene, which normally work together to inhibit a signaling pathway called mTOR. When these genes are mutated, mTOR signaling becomes overactive, promoting excessive cell growth. The condition is inherited in an autosomal dominant pattern, though about two-thirds of cases arise from new (de novo) mutations. The mTOR inhibitors everolimus and sirolimus are now FDA-approved treatments that can shrink tumors and reduce seizures.

NutraHacker examines the following genes related to Tuberous Sclerosis Complex:

For more information about your own genetic profile as related to Tuberous Sclerosis Complex, please check out our NutraHacker WGS Critical Genetics Report.

Or to get going without any further delay, upload whole genome sequencing data and find out more about your critical genetics today.