Ontology highlight
ABSTRACT:
SUBMITTER: Nair N
PROVIDER: S-EPMC7478169 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Nair Nikhil N Chakraborty Ronith R Mahajan Zubin Z Sharma Aditya A Sethi Sidharth K SK Raina Rupesh R
Journal of kidney cancer and VHL 20200827 3
Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the <i>TSC1</i> or <i>TSC2</i> gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors, and seizures. TSC can manifest in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney dis ...[more]