Tuberous Sclerosis
"Tuberous Sclerosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
Descriptor ID |
D014402
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MeSH Number(s) |
C04.445.810 C04.651.800 C04.700.632 C10.500.507.400.750 C10.562.850 C10.574.500.865 C16.131.666.507.400.750 C16.320.400.880 C16.320.700.636
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Concept/Terms |
Tuberous Sclerosis- Tuberous Sclerosis
- Sclerosis, Tuberous
- Tuberous Sclerosis Complex
- Bourneville Syndrome
- Syndrome, Bourneville
- Bourneville's Disease
- Bourneville's Syndrome
- Syndrome, Bourneville's
- Bourneville-Pringle Disease
- Bourneville Pringle Disease
- Disease, Bourneville-Pringle
- Bourneville-Pringle's Disease
- Bourneville Pringle's Disease
- Bourneville-Pringles Disease
- Disease, Bourneville-Pringle's
- Cerebral Sclerosis
- Cerebral Scleroses
- Sclerosis, Cerebral
- Epiloia
- Phacomatosis, Bourneville
- Bourneville Phacomatosis
- Phakomatosis, Bourneville
- Sclerosis Tuberosa
- Tuberose Sclerosis
- Sclerosis, Tuberose
- Bourneville Disease
- Bourneville Phakomatosis
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Below are MeSH descriptors whose meaning is more general than "Tuberous Sclerosis".
- Diseases [C]
- Neoplasms [C04]
- Hamartoma [C04.445]
- Tuberous Sclerosis [C04.445.810]
- Neoplasms, Multiple Primary [C04.651]
- Tuberous Sclerosis [C04.651.800]
- Neoplastic Syndromes, Hereditary [C04.700]
- Tuberous Sclerosis [C04.700.632]
- Nervous System Diseases [C10]
- Nervous System Malformations [C10.500]
- Malformations of Cortical Development [C10.500.507]
- Malformations of Cortical Development, Group I [C10.500.507.400]
- Tuberous Sclerosis [C10.500.507.400.750]
- Neurocutaneous Syndromes [C10.562]
- Tuberous Sclerosis [C10.562.850]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Tuberous Sclerosis [C10.574.500.865]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Nervous System Malformations [C16.131.666]
- Malformations of Cortical Development [C16.131.666.507]
- Malformations of Cortical Development, Group I [C16.131.666.507.400]
- Tuberous Sclerosis [C16.131.666.507.400.750]
- Genetic Diseases, Inborn [C16.320]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Tuberous Sclerosis [C16.320.400.880]
- Neoplastic Syndromes, Hereditary [C16.320.700]
- Tuberous Sclerosis [C16.320.700.636]
Below are MeSH descriptors whose meaning is more specific than "Tuberous Sclerosis".
This graph shows the total number of publications written about "Tuberous Sclerosis" by people in this website by year, and whether "Tuberous Sclerosis" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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1995 | 1 | 0 | 1 | 2003 | 1 | 0 | 1 | 2004 | 1 | 0 | 1 | 2005 | 1 | 0 | 1 | 2006 | 1 | 2 | 3 | 2007 | 1 | 0 | 1 | 2010 | 2 | 0 | 2 | 2011 | 0 | 2 | 2 | 2012 | 2 | 0 | 2 | 2014 | 2 | 0 | 2 | 2015 | 3 | 0 | 3 | 2016 | 2 | 0 | 2 | 2017 | 1 | 1 | 2 | 2018 | 2 | 0 | 2 | 2019 | 3 | 0 | 3 | 2020 | 0 | 1 | 1 | 2022 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Tuberous Sclerosis" by people in Profiles.
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Morin CE, Griffin LM, Beroukhim RS, Caro-Dom?nguez P, Chan S, Johnson JN, Infante JC, Lam CZ, Malone LJ, Tang ER, Taylor MD, Wilkinson JC, Masand PM. Imaging of pediatric cardiac tumors: A COG Diagnostic Imaging Committee/SPR Oncology Committee White Paper. Pediatr Blood Cancer. 2023 06; 70 Suppl 4:e29955.
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McDermott DS, Mirro EA, Fetrow K, Burdette DE, Chen S, Hopp J, Masel T, Johnson EA, Elefant FMK, Le S, Patra SE, Brown MG, Haneef Z. Brain-Responsive Neurostimulation for the treatment of adults with epilepsy in tuberous sclerosis complex: A case series. Epilepsia Open. 2021 06; 6(2):419-424.
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Grinspan ZM, Mytinger JR, Baumer FM, Ciliberto MA, Cohen BH, Dlugos DJ, Harini C, Hussain SA, Joshi SM, Keator CG, Knupp KG, McGoldrick PE, Nickels KC, Park JT, Pasupuleti A, Patel AD, Pomeroy SL, Shahid AM, Shellhaas RA, Shrey DW, Singh RK, Wolf SM, Yozawitz EG, Yuskaitis CJ, Waugh JL, Pearl PL. Crisis Standard of Care: Management of Infantile Spasms during COVID-19. Ann Neurol. 2020 08; 88(2):215-217.
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Ess KC, Franz DN. Everolimus for cognition/autism in children with tuberous sclerosis complex: Definitive outcomes deferred. Neurology. 2019 07 09; 93(2):51-52.
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Short B, Kozek L, Harmsen H, Zhang B, Wong M, Ess KC, Fu C, Naftel R, Pearson MM, Carson RP. Cerebral aquaporin-4 expression is independent of seizures in tuberous sclerosis complex. Neurobiol Dis. 2019 09; 129:93-101.
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Rushing GV, Brockman AA, Bollig MK, Leelatian N, Mobley BC, Irish JM, Ess KC, Fu C, Ihrie RA. Location-dependent maintenance of intrinsic susceptibility to mTORC1-driven tumorigenesis. Life Sci Alliance. 2019 04; 2(2).
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Krueger DA, Capal JK, Curatolo P, Devinsky O, Ess K, Tzadok M, Koenig MK, Narayanan V, Ramos F, Jozwiak S, de Vries P, Jansen AC, Wong M, Mowat D, Lawson J, Bruns S, Franz DN. Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience. Eur J Paediatr Neurol. 2018 Nov; 22(6):1066-1073.
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Mortaji P, Morris KT, Samedi V, Eberhardt S, Ryan S. Pancreatic neuroendocrine tumor in a patient with a TSC1 variant: case report and review of the literature. Fam Cancer. 2018 04; 17(2):275-280.
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Armstrong LC, Westlake G, Snow JP, Cawthon B, Armour E, Bowman AB, Ess KC. Heterozygous loss of TSC2 alters p53 signaling and human stem cell reprogramming. Hum Mol Genet. 2017 12 01; 26(23):4629-4641.
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Dahl NA, Luebbert T, Loi M, Neuberger I, Handler MH, Kleinschmidt-DeMasters BK, Mulcahy Levy JM. Chordoma Occurs in Young Children With Tuberous Sclerosis. J Neuropathol Exp Neurol. 2017 Jun 01; 76(6):418-423.
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