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 25 results found based on your keywords
RF_ID Disease Name Species RF_Name Association Phase Condition Year PMID
3480 Tuberous sclerosis complex Human mutations in TSC2 RF 2015 26631248
3884 Tuberous sclerosis complex Human TSC2 RF Diagnosis 2021 33225634
1414 Tuberous sclerosis complex Human age of onset RF 2009 20113608
3387 Tuberous sclerosis complex Human autistic features RF 2017 28721058
2913 Tuberous sclerosis complex Human bilateral angiomyolipoma (AML) RF Diagnosis 2021 33517888
3461 Tuberous sclerosis complex Human history of infantile spasm (epileptic spasms) RF 2017 28721058
2780 Tuberous sclerosis complex Human Seizure type (ie, infantile spasms) RF 1998 9520012
1446 Tuberous sclerosis complex Human administration of multiple antiepileptic drugs RF 2009 20113608
3889 Tuberous sclerosis complex Human multiple antiepileptic drugs RF Diagnosis 2021 33225634
2456 Tuberous sclerosis complex Human poor control of subsequent seizures after IS RF 2005 16043792
2995 Tuberous sclerosis complex Human calcification in the cerebral parenchyma RF 2018 29929111
3887 Tuberous sclerosis complex Human course of epilepsy RF Diagnosis 2021 33225634
3420 Tuberous sclerosis complex Human Early-onset and severe epilepsy RF in the first 2 years of life 2019 31538337
3885 Tuberous sclerosis complex Human epilepsy RF Diagnosis 2021 33225634
3428 Tuberous sclerosis complex Human epilepsy RF 2015 26631248
3888 Tuberous sclerosis complex Human high reported seizure frequency(HRSF) RF Diagnosis 2021 33225634
3456 Tuberous sclerosis complex Human high tuber burden RF 2017 28721058
3470 Tuberous sclerosis complex Human Infantile spasms RF 2015 26631248
3890 Tuberous sclerosis complex Human intellectual disability(ID) RF Diagnosis 2021 33225634
1886 Tuberous sclerosis complex Human prolonged duration of IS RF per 1-month interval 2005 16043792
1881 Tuberous sclerosis complex Human prolonged time from treatment initiation until the cessation of IS RF 2005 16043792
3886 Tuberous sclerosis complex Human seizure RF Diagnosis 2021 33225634
3504 Tuberous sclerosis complex Human severe mental retardation RF 2017 28721058
3522 Tuberous sclerosis complex Human The presence of seizures RF 2011 21449900
3891 Tuberous sclerosis complex Human tuberous sclerosis–associated neuropsychiatric disorders(TANDs) RF Diagnosis 2021 33225634
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