KEGG   DISEASE: H00915Help
Entry
H00915                      Disease                                

Name
Tuberous sclerosis complex (TSC);
Bourneville-Pringle disease
Description
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.
Category
Nervous system disease; Skin and connective tissue disease
BRITE hierarchy
Pathway
p53 signaling pathway
mTOR signaling pathway
Insulin signaling pathway
Gene
TSC1 [HSA:7248] [KO:K07206]
TSC2 [HSA:7249] [KO:K07207]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:21692602 (description. gene)
  Authors
Hallett L, Foster T, Liu Z, Blieden M, Valentim J
  Title
Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review.
  Journal
Curr Med Res Opin 27:1571-83 (2011)
Reference
PMID:21301339 (description. gene)
  Authors
Tsai P, Sahin M
  Title
Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex.
  Journal
Curr Opin Neurol 24:106-13 (2011)
Reference
PMID:21182496 (description. gene)
  Authors
Borkowska J, Schwartz RA, Kotulska K, Jozwiak S
  Title
Tuberous sclerosis complex: tumors and tumorigenesis.
  Journal
Int J Dermatol 50:13-20 (2011)

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