Tuberous sclerosis 1

An autosomal dominant syndrome caused by pathogenic variants in the TSC1 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions.

Also known as: TSC1 tuberous sclerosis, TSC1-related tuberous sclerosis, tuberous sclerosis 1, tuberous sclerosis caused by mutation in TSC1, tuberous sclerosis type 1, tuberous sclerosis-1, TSC1, tuberose sclerosis

65 clinical trials for this condition and its sub-types, 33 tagged with Tuberous sclerosis 1 itself.