Tuberous Sclerosis ComplexSymptoms, Doctors, Treatments, Advances & More
Tuberous Sclerosis Complex Overview
Learn About Tuberous Sclerosis Complex
Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the brain, kidneys, heart, skin, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person.
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.
Tuberous sclerosis complex affects 1 in 6,000 to 10,000 people.
Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and other problems with development. In about one-third of cases, an affected person inherits an altered TSC1 or TSC2 gene from a parent who has the disorder. The remaining two-thirds of people with tuberous sclerosis complex are born with new variants in the TSC1 or TSC2 gene. These cases, which are described as sporadic, occur in people with no history of tuberous sclerosis complex in their family. TSC1 gene variants appear to be more common in familial cases of tuberous sclerosis complex, while variants in the TSC2 gene occur more frequently in sporadic cases.
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Jurriaan Peters is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Peters is rated as an Elite provider by MediFind in the treatment of Tuberous Sclerosis Complex. He is also highly rated in 42 other conditions, according to our data. His clinical expertise encompasses Tuberous Sclerosis Complex, Tuberous Sclerosis, Cortical Dysplasia, and Seizures.
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Steven Sparagana is a Neurologist practicing medicine in Dallas, Texas. Dr. Sparagana is rated as an Elite provider by MediFind in the treatment of Tuberous Sclerosis Complex. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Tuberous Sclerosis Complex, Tuberous Sclerosis, Cortical Dysplasia, and Astrocytoma.
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Brenda Porter is a Neurologist practicing medicine in Palo Alto, California. Dr. Porter is rated as an Elite provider by MediFind in the treatment of Tuberous Sclerosis Complex. She is also highly rated in 44 other conditions, according to our data. Her clinical expertise encompasses Seizures, Tuberous Sclerosis, Tuberous Sclerosis Complex, Epilepsy, and Deep Brain Stimulation.
Summary: Pulmonary lymphangioleiomyomatosis (LAM) is a destructive lung disease typically affecting women of childbearing age. Currently, there is no effective therapy for the disease and the prognosis is poor. This study is designed to determine the disease processes involved at the level of cells and molecules, in order to develop more effective therapy. Researchers intend to identify the proteins and ge...
Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...
Published Date: January 04, 2022
Published By: National Institutes of Health