tuberous sclerosis type 2

tuberous sclerosis type 2

An autosomal dominant multi-system disorder (OMIM:613254) characterised by hamartomas and developmental defects, which primarily affects the brain, kidneys, heart and skin.

Clinical findings
Range from benign hypopigmented skin macules, to profound mental retardation with intractable seizures and premature death due to disease-associated causes.
 
Molecular pathology
Defects of TSC2, which encodes a putative tumour suppressor, cause of tuberous sclerosis type 2.
References in periodicals archive ?
SAN DIEGO -- Characteristic patterns of gene expression in blood samples can now identify patients with migraine, Tourette's syndrome, neurofibromatosis type 1, tuberous sclerosis type 2, Down syndrome, and early ischemic stroke, among other diseases, Dr.
Five genes in the blood differentiate neurofibromatosis type 1 and tuberous sclerosis type 2, for example.