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.
New York University
Orrin Devinsky is a Neurologist and a General Surgeon in New York, New York. Dr. Devinsky and is rated as an Elite provider by MediFind in the treatment of Tuberous Sclerosis Complex. His top areas of expertise are Myoclonic Epilepsy, Seizures, Dravet Syndrome, Epilepsy, and Deep Brain Stimulation.
Children's Hospital Medical Center
David Franz is a Pediatric Neurologist and a Pediatrics provider in Cincinnati, Ohio. Dr. Franz and is rated as an Elite provider by MediFind in the treatment of Tuberous Sclerosis Complex. His top areas of expertise are Tuberous Sclerosis Complex, Tuberous Sclerosis, Cortical Dysplasia, and Astrocytoma. Dr. Franz is currently accepting new patients.
UT Lebonheur Pediatric Specialists, Inc.
John Bissler is a Pediatric Nephrologist and a Nephrologist in Memphis, Tennessee. Dr. Bissler has been practicing medicine for over 40 years and is rated as an Elite provider by MediFind in the treatment of Tuberous Sclerosis Complex. His top areas of expertise are Tuberous Sclerosis, Tuberous Sclerosis Complex, Cortical Dysplasia, Astrocytoma, and Nephrectomy. Dr. Bissler is currently accepting new patients.
Summary: Tuberous sclerosis is a rare, hereditary disease in which patients develop multiple tumors. Although not cancerous, the tumors can affect various organs, including the heart, lungs, kidneys, skin, and central nervous system, with serious medical consequences. The severity of disease varies greatly among patients, from barely detectable to fatal. This study will investigate what causes skin tumors ...
Summary: This study is designed to evaluate the genetics involved in the development of lung disease by surveying genes involved in the process of breathing and examining the genes in lung cells of patients with lung disease. The study will focus on defining the distribution of abnormal genes responsible for processes directly involved in different diseases affecting the lungs of patients and healthy volun...
Published Date: January 04, 2022
Published By: National Institutes of Health