KEGG   DISEASE: Tuberous sclerosis complex (TSC)Help
H00915                      Disease                                

Tuberous sclerosis complex (TSC);
Bourneville-Pringle disease
Tuberous sclerosis complex (TSC), also known as Bourneville-Pringle disease, is a rare, slowly progressive genetic disorder characterized by pervasive benign tumors in most organ systems including the brain, skin, kidney, liver, lung, and heart, which is inherited in an autosomal dominant manner. Patients with TSC are frequently diagnosed with comorbid neurological disorders, including epilepsy, intellectual disability, behavioral dysregulation, sleep disorders, and autism spectrum disorders (ASD). TSC most often results from spontaneous genetic mutations in one or two genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively. These gene products form a physical and functional complex to limit activation of the mammalian target rapamycin (mTOR) complex 1. When these genes are deficient, mTOR complex 1 is constitutively up-regulated, leading to uncontrolled cell growth and protein synthesis.
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00915  Tuberous sclerosis complex (TSC)
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q80-Q89  Other congenital malformations
   Q85  Phakomatoses, not elsewhere classified
    H00915  Tuberous sclerosis complex (TSC)
BRITE hierarchy
hsa04115  p53 signaling pathway
hsa04150  mTOR signaling pathway
hsa04910  Insulin signaling pathway
TSC1 [HSA:7248] [KO:K07206]
TSC2 [HSA:7249] [KO:K07207]
Other DBs
ICD-10: Q85.1
MeSH: D014402
OMIM: 191100
PMID:21692602 (description. gene)
Hallett L, Foster T, Liu Z, Blieden M, Valentim J
Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review.
Curr Med Res Opin 27:1571-83 (2011)
PMID:21301339 (description. gene)
Tsai P, Sahin M
Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex.
Curr Opin Neurol 24:106-13 (2011)
PMID:21182496 (description. gene)
Borkowska J, Schwartz RA, Kotulska K, Jozwiak S
Tuberous sclerosis complex: tumors and tumorigenesis.
Int J Dermatol 50:13-20 (2011)

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