Disease-gene associations mined from literature

Human genes for tuberous sclerosis

Tuberous sclerosis [DOID:13515]

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral problems, skin abnormalities, lung and kidney disease. TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin respectively. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation.

Synonyms:  tuberous sclerosis,  DOID:13515,  Bourneville's disease,  Epiloia,  Tuberose sclerosis ...

Linkouts:  OMIM #1 #2 #3 #4