A genetic disorder in which benign (not cancer) tumors form in the kidneys, brain, eyes, heart, lungs, and skin. This disease can cause seizures, mental disabilities, and different types of skin lesions.

Autosomal dominant disease characterized principally by the presences of hamartomas of the brain, retina, and visera; clinical manifestations include mental retardation, seizures, and adenoma sebaceum of the face.

Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.

Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.

Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical dysplasias, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.

Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow. They could include Skin problems, such as light patches and thickened skin; Seizures; Behavior problems; Intellectual disabilities; Kidney problems. Some people have signs of tuberous sclerosis at birth. In others it can take time for the symptoms to develop. The disease can be mild, or it can cause severe disabilities. In rare cases, tumors in vital organs or other symptoms can be life-threatening. Tuberous sclerosis has no cure, but treatments can help symptoms. Options include medicines, educational and occupational therapy, surgery, or surgery to treat specific complications. NIH: National Institute of Neurological Disorders and Stroke

Tuberous sclerosis complex is a dominantly inherited genetic disorder in which tumors (usually hamartomas) develop in multiple organs. Diagnosis requires specific clinical criteria and imaging of the affected organ. Treatment is symptomatic or, if central nervous system tumors are growing, drug therapy with sirolimus or everolimus....

Tuberous sclerosis complex (TSC) is a genetic disorder affecting cellular differentiation, proliferation, and migration early in development, resulting in a variety of hamartomatous lesions that may affect virtually every organ system of the body. The best-known cutaneous manifestation of TSC is adenoma sebaceum, which often does not...

Tuberous sclerosis (TWO-bur-uhs skluh-ROH-sis), also called tuberous sclerosis complex, is an uncommon genetic disorder that causes noncancerous (benign) tumors - unexpected overgrowths of normal tissue - to develop in many parts of the body. Signs and symptoms vary widely, depending on where the growths develop and how severely a person...

Tuberous sclerosis complex (TSC) is characterized by the growth of benign tumors throughout the body, including in the heart, brain, and kidneys. Certain symptoms develop before to birth, such as heart tumors (rhabdomyoma). Other symptoms become more obvious in childhood, such as developmental delay and skin changes. Lung and kidney...

Tuberous sclerosis complex (TSC) is an autosomal-dominant, neurocutaneous, multisystem disorder characterized by cellular hyperplasia, tissue dysplasia, and multiple organ hamartomas. The disease has 2 genetic loci: TSC1, found on chromosome 9q34; and TSC2, found on chromosome 16p13. The clinical phenotype can result from a mutation in...

Tuberous sclerosis, autosomal dominant disorder marked by the formation of widespread benign tumors throughout the body. This disease has a well-established molecular link, which stems from defects or mutations in either of two genes--TSC1 or TSC2--that cause uncontrolled cell growth. Eighty percent...