*** Welcome to piglix ***

Tuberous Sclerosis Complex

Tuberous sclerosis complex
Synonyms Tuberous sclerosis complex (TSC),
Bourneville disease
Patient with facial angiofibromas caused by tuberous sclerosis.jpg
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 /bɔərnˈvl/) 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.


...
Wikipedia

...