Alternative Names & Classifications:
Tuberous Sclerosis (CLINICAL), Tuberous Sclerosis Complex (CLINICAL)
Description
Tuberous Sclerosis is caused by mutations in either the TSC1 or TSC2 gene, which normally act to suppress tumor growth. Without these functional suppressors, cells divide unchecked, creating non-cancerous hamartomas primarily in the brain, kidneys, heart, lungs, and skin. It is heavily associated with epilepsy and severe learning disabilities.