KEGG   DISEASE: Tuberous sclerosis complex
Entry
H00915                      Disease                                
Name
Tuberous sclerosis complex;
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
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00915  Tuberous sclerosis complex
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2D  Phakomatoses or hamartoneoplastic syndromes
    H00915  Tuberous sclerosis complex
Related
pathway
hsa04115  p53 signaling pathway
hsa04150  mTOR signaling pathway
hsa04910  Insulin signaling pathway
Network
nt06522  mTOR signaling
Gene
(TSC1) TSC1 [HSA:7248] [KO:K07206]
(TSC2) TSC2 [HSA:7249] [KO:K07207]
Drug
Cannabidiol [DR:D10915]
Other DBs
ICD-11: LD2D.2
ICD-10: Q85.1
MeSH: D014402
OMIM: 191100 613254
Reference
  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)
DOI:10.1185/03007995.2011.586687
Reference
  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)
DOI:10.1097/WCO.0b013e32834451c4
Reference
  Authors
Borkowska J, Schwartz RA, Kotulska K, Jozwiak S
  Title
Tuberous sclerosis complex: tumors and tumorigenesis.
  Journal
Int J Dermatol 50:13-20 (2011)
DOI:10.1111/j.1365-4632.2010.04727.x
Reference
PMID:9242607 (TSC1)
  Authors
van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ
  Title
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
  Journal
Science 277:805-8 (1997)
DOI:10.1126/science.277.5327.805
Reference
PMID:7581393 (TSC2)
  Authors
Kumar A, Wolpert C, Kandt RS, Segal J, Pufky J, Roses AD, Pericak-Vance MA, Gilbert JR
  Title
A de novo frame-shift mutation in the tuberin gene.
  Journal
Hum Mol Genet 4:1471-2 (1995)
DOI:10.1093/hmg/4.8.1471
LinkDB

» Japanese version

DBGET integrated database retrieval system