Tuberous Sclerosis
| Tuberous sclerosis complex | |
|---|---|
| Synonyms | Tuberous sclerosis complex (TSC), Bourneville disease |
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| A case of tuberous sclerosis showing facial angiofibromas in characteristic butterfly pattern | |
| Classification and external resources | |
| Specialty | neurology, medical genetics |
| ICD-10 | Q85.1 |
| ICD-9-CM | 759.5 |
| OMIM | 191100 613254 |
| DiseasesDB | 13433 |
| MedlinePlus | 000787 |
| eMedicine | neuro/386 derm/438 ped/2796 radio/723 |
| Patient UK | Tuberous sclerosis |
| MeSH | D014402 |
| GeneReviews | |
| Orphanet | 805 |
| Hamartin | |
|---|---|
| Identifiers | |
| Symbol | TSC1 |
| Entrez | 7248 |
| HUGO | 12362 |
| OMIM | 605284 |
| RefSeq | NM_000368 |
| UniProt | Q92574 |
| Other data | |
| Locus | Chr. 9 q34 |
| Tuberin | |
|---|---|
| Identifiers | |
| Symbol | TSC2 |
| Entrez | 7249 |
| HUGO | 12363 |
| OMIM | 191092 |
| RefSeq | NM_000548 |
| UniProt | P49815 |
| Other data | |
| Locus | Chr. 16 p13.3 |
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disease that causes benign tumors 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, and 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.
The name, composed of the Latin tuber (swelling) and the Greek skleros (hard), refers to the pathological finding of thick, firm, and pale gyri, called "tubers", in the brains of patients post mortem. These tubers were first described by Désiré-Magloire Bourneville in 1880; the cortical manifestations may sometimes still be known by the eponym Bourneville's disease (English /bɔərnˈviːl/) or Bourneville–Pringle disease (after Bourneville and John James Pringle). The full name of "tuberous sclerosis complex" is preferred among medical professionals and researchers today because the disease has manifestations outside of the brain. Furthermore, the name reduces confusion with tuberculosis, a more well-known disease.
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