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Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
The history of tuberous sclerosis (TSC) research spans less than 200 years. TSC is a rare, multi-system genetic disease that can cause benign tumours to grow on the brain or other vital organs such as the kidneys , heart , eyes , lungs , and skin .
These include tuberous sclerosis, which causes skin lesions similar to fibrofolliculomas, and Von Hippel–Lindau disease, which causes hereditary kidney cancers. Once diagnosed, people with BHD are treated preventatively, with monitoring of kidneys and lungs using medical imaging .
Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2. The complex is known as a tumor suppressor. Mutations in these genes can cause tuberous sclerosis complex.
Subependymal giant cell astrocytoma (SEGA, SGCA, or SGCT) is a low-grade astrocytic brain tumor (astrocytoma) that arises within the ventricles of the brain. [1] It is most commonly associated with tuberous sclerosis complex (TSC).
According to the Mayo Clinic. tuberous sclerosis — also called tuberous sclerosis complex (TSC) — is "an uncommon genetic disorder that causes tumors to develop in many parts of the body ...
Defects in this gene can cause tuberous sclerosis, due to a functional impairment of the TSC complex. [citation needed] Defects in TSC1 may also be a cause of focal cortical dysplasia. [citation needed] TSC1 may be involved in protecting brain neurons in the CA3 region of the hippocampus from the effects of stroke. [7]
In tuberous sclerosis, typically, many angiomyolipomas affect each kidney. Not uncommonly, more than one intervention may be required during lifetime. Since kidney function may already be impaired (up to half the kidney may be lost before function loss is detectable), preserving as much kidney as possible is vital when removing any lesion.