Tuberous sclerosis or
tuberous sclerosis complex (
TSC) is a rare multi-system
genetic disease that causes benign tumors to grow in the
brain and on other vital organs such as the
kidneys,
heart,
eyes,
lungs, and
skin. A combination of symptoms may include
seizures,
intellectual disability,
developmental delay, behavioral problems, skin abnormalities, lung and kidney disease. TSC is caused by a
mutation of either of two
genes,
TSC1 and
TSC2, which code for the
proteins hamartin and tuberin respectively. These proteins act as
tumor growth suppressors, agents that regulate cell proliferation and differentiation.