Synonyms
Tuberous sclerosis; Bourneville-Pringle’s disease
Definition and Characteristics
Autosomal dominant tumor-associated syndrome leading to the formation of numerous hamartomas in multiple organs. The clinical appearance is highly variable. Hamartomas of the brain, which may take the form of giant cell astrocytomas, may lead to epilepsy and mental retardation; hamartomas of the kidneys can cause renal insuffiency, and hamartomas of the heart may cause arrhythmia and cardiac insufficiency. About 25% of the patients are not mentally affected and do not suffer from epilepsy. A clinical hallmark are numerous angiofibromas of the face.
Prevalence
The estimated prevalence is 1:5,000 to 1:10,000. Half of the cases are familiar, the other half sporadic.
Genes
Tuberous sclerosis is caused by a heterozygous mutation of the tuberous sclerosis complex gene-1 or -2 (TSC1 or TSC2) on Chromosome 9q34 (TSC1) and 16p13.3 (TSC2). TSC1 and TSC2 are tumor suppressor genes. In most hamartomas, a loss...
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References
Roach ES et al. (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnositic criteria. J Child Neurol 13:624–628
Roach ES et al. (1999) Tuberous sclerosis complex consensus conference: recommendations for diagnostic evaluation. J Child Neurol 14:401–407
Kennerson HL (2002) Activated mammalian target of rapamycin pathway in the pathogenesis of tuberous sclerosis complex renal tumors. Cancer Res 62:5645–5650
Brazil DP et al. (2002) PKB binding proteins. Getting in on the Akt. Cell 111:293–303
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© 2009 Springer-Verlag GmbH Berlin Heidelberg
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Wienecke, R. (2009). Tuberous Sclerosis Complex. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_1789
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DOI: https://doi.org/10.1007/978-3-540-29676-8_1789
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
Online ISBN: 978-3-540-29676-8
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