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
|
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
|
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
|
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 |
---|
1995 | 1 | 0 | 1 | 2002 | 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 | 4 | 0 | 4 | 2014 | 1 | 0 | 1 | 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 | 2 | 0 | 2 | 2024 | 2 | 0 | 2 | 2025 | 2 | 0 | 2 |
To return to the timeline, click here.
Below are the most recent publications written about "Tuberous Sclerosis" by people in Profiles.
-
Chalkley ML, Guerin LN, Iyer T, Mallahan S, Nelson S, Sahin M, Hodges E, Ess KC, Ihrie RA. Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome. Hum Mol Genet. 2025 Apr 06; 34(8):684-698.
-
Schultz KAP, MacFarland SP, Perrino MR, Mitchell SG, Kamihara J, Nelson AT, Mallinger PHR, Brzezinski JJ, Maxwell KN, Woodward ER, Gallinger B, Kim SY, Greer MC, Schneider KW, Scollon SR, Das A, Wasserman JD, Eng C, Malkin D, Foulkes WD, Michaeli O, Bauer AJ, Stewart DR. Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex. Clin Cancer Res. 2025 Jan 17; 31(2):234-244.
-
Arceneaux JS, Brockman AA, Khurana R, Chalkley ML, Geben LC, Krbanjevic A, Vestal M, Zafar M, Weatherspoon S, Mobley BC, Ess KC, Ihrie RA. Multiparameter quantitative analyses of diagnostic cells in brain tissues from tuberous sclerosis complex. Cytometry B Clin Cytom. 2025 Jan; 108(1):35-54.
-
Brown JA, Faley SL, Judge M, Ward P, Ihrie RA, Carson R, Armstrong L, Sahin M, Wikswo JP, Ess KC, Neely MD. Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit. J Neurodev Disord. 2024 May 23; 16(1):27.
-
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.
-
Ihrie RA, Henske EP. Modeling tuberous sclerosis with organoids. Science. 2022 01 28; 375(6579):382-383.
-
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.
-
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.
-
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.
-
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.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|