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Mesh term Tuberous Sclerosis

Browse to parent terms:
Hamartoma
Heredodegenerative Disorders, Nervous System
Malformations of Cortical Development, Group I
Neoplasms, Multiple Primary
Neoplastic Syndromes, Hereditary
Neurocutaneous Syndromes

Description

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.



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