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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Variants (also known as mutations) in the TSC1 or TSC2 gene can cause tuberous sclerosis complex. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins work together to help regulate cell growth and division (proliferation) and cell size. The proteins act as tumor suppressors, which normally prevent cells from growing and dividing too fast or in an uncontrolled way.

People with tuberous sclerosis complex are born with one altered copy of the TSC1 gene or the TSC2 gene in each cell. A variant in one copy of the TSC1 gene prevents cells from making functional hamartin protein from that copy; a change in one copy of the TSC2 gene prevents cells from making functional tuberin protein from the altered copy. However, enough protein is usually produced from the other, normal copy of the TSC1 or TSC2 gene to regulate cell growth effectively. For tumors to develop in tuberous sclerosis complex, a second change involving the other copy of the TSC1 or TSC2 gene must occur in cells during a person's lifetime.

Cells that have variants in both copies of the TSC1 gene cannot produce any functional hamartin; cells with two altered copies of the TSC2 gene are unable to produce any functional tuberin. The loss of either of these proteins allows the cell to grow and divide in an uncontrolled way to form a tumor. In people with tuberous sclerosis complex, a second variant in the TSC1 or TSC2 gene typically occurs in multiple cells over an affected person's lifetime. The absence of hamartin or tuberin in different types of cells leads to the growth of tumors in many different organs and tissues, as seen in tuberous sclerosis complex.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Tuberous sclerosis complex?"},{"bodyHtml":"

Tuberous sclerosis complex often affects the brain, with some affected individuals having benign growths in the outer surface of the brain (cerebral cortex) known as cortical tubers. Individuals with tuberous sclerosis complex often develop a pattern of behaviors called TSC-associated neuropsychiatric disorders (TAND). These disorders include hyperactivity, aggression, psychiatric conditions, intellectual disability, and problems with communication and social interaction (autism spectrum disorder). Additionally, individuals with tuberous sclerosis complex may have attention-deficit/hyperactivity disorder (ADHD) or seizures.

Kidney tumors are common in people with tuberous sclerosis complex; these growths can cause severe problems with kidney function and may be life-threatening in some cases. Additionally, tumors can develop in the heart (cardiac rhabdomyoma) and the light-sensitive tissue at the back of the eye (the retina). Some women with tuberous sclerosis complex develop lymphangioleiomyomatosis (LAM), which is a lung disease characterized by the abnormal overgrowth of smooth muscle-like tissue in the lungs that causes coughing, shortness of breath, chest pain, and lung collapse.

Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Sometimes, affected individuals have areas of bone or dental damage.

Source: MedlinePlus Genetics

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