Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease.

The prevalence of the disease is estimated to be 7 to 12 in 100,000.[1] The disease is often abbreviated to tuberous sclerosis, which refers to the hard swellings in the brains of patients, first described by French neurologist Désiré-Magloire Bourneville in 1880.[4]


[1]O'Callaghan FJ, Shiell AW, Osborne JP, Martyn CN (May 1998). "Prevalence of tuberous sclerosis estimated by capture-recapture analysis". Lancet. 351 (9114): 1490. doi:10.1016/S0140-6736(05)78872-3. PMID 9605811.
[4]Brigo F, Lattanzi S, Trinka E, Nardone R, Bragazzi NL, Ruggieri M, et al. (December 2018). "First descriptions of tuberous sclerosis by Désiré-Magloire Bourneville (1840-1909)". Neuropathology. 38 (6): 577–582. doi:10.1111/neup.12515. PMID 30215888.

The search result for the NDD Category "Tuberous Sclerosis Complex"
A total of 16 results found based on your keywords
RF_ID Disease Name Species RF_Name Association Condition PMID
316 Tuberous sclerosis complex human administration of multiple antiepileptic drugs RF 20113608
325 Tuberous sclerosis complex human age of onset RF 20113608
349 Tuberous sclerosis complex human autistic features RF 28721058
371 Tuberous sclerosis complex human calcification in the cerebral parenchyma RF 29929111
424 Tuberous sclerosis complex human Early-onset and severe epilepsy RF in the first 2 years of life 31538337
431 Tuberous sclerosis complex human epilepsy RF 26631248
492 Tuberous sclerosis complex human high tuber burden RF 28721058
501 Tuberous sclerosis complex human history of infantile spasm (epileptic spasms) RF 28721058
520 Tuberous sclerosis complex human infantile spams RF 26631248
565 Tuberous sclerosis complex human mutations in TSC2 RF 26631248
611 Tuberous sclerosis complex human poor control of subsequent seizures after IS RF 16043792
623 Tuberous sclerosis complex human prolonged duration of IS RF per 1-month interval 16043792
624 Tuberous sclerosis complex human prolonged time from treatment initiation until the cessation of IS RF 16043792
642 Tuberous sclerosis complex human Seizure type (ie, infantile spasms) RF 9520012
645 Tuberous sclerosis complex human severe mental retardation RF 28721058
667 Tuberous sclerosis complex human The presence of seizures RF 21449900
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