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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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 Adenoma Sebaceum Adenoma Sebaceum

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 related to "Tuberous Sclerosis".

Below are MeSH descriptors whose meaning is more specific than "Tuberous Sclerosis".

publications

Timeline | Most Recent

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.

Bar chart showing 44 publications over 23 distinct years, with a maximum of 4 publications in 1997 and 2004 and 2005

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1997	4	0	4
1998	1	0	1
1999	1	1	2
2000	3	0	3
2001	1	0	1
2004	3	1	4
2005	2	2	4
2006	1	1	2
2007	3	0	3
2008	1	0	1
2009	1	0	1
2010	1	0	1
2011	1	2	3
2012	1	0	1
2013	2	0	2
2014	2	1	3
2015	1	1	2
2016	0	1	1
2017	1	0	1
2019	1	0	1
2022	1	0	1
2023	1	0	1
2024	1	0	1

Below are the most recent publications written about "Tuberous Sclerosis" by people in Profiles.

Chari A, Hernan AE, Mahoney JM, Thornton R, Tahir MZ, Tisdall MM, Scott RC. Single unit-derived connectivity networks in tuberous sclerosis complex reveal propensity for network hypersynchrony driven by tuber-tuber interactions. Sci Rep. 2024 12 30; 14(1):31654.

View in: PubMed
Bello NR, Pisuchpen P, de Guimar?es TAC, Capasso JE, Levin AV. TWO CASES OF CRB1-RELATED RETINAL DYSTROPHY ASSOCIATED WITH RETINAL MASSES. Retin Cases Brief Rep. 2023 Nov 01; 17(6):714-718.

View in: PubMed
Wang D, Eisen HJ. Mechanistic Target of Rapamycin (mTOR) Inhibitors. Handb Exp Pharmacol. 2022; 272:53-72.

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Dombkowski AA, Cukovic D, Bagla S, Jones M, Caruso JA, Chugani HT, Chugani DC. TLR7 activation in epilepsy of tuberous sclerosis complex. Inflamm Res. 2019 Dec; 68(12):993-998.

View in: PubMed
Bagla S, Cukovic D, Asano E, Sood S, Luat A, Chugani HT, Chugani DC, Dombkowski AA. A distinct microRNA expression profile is associated with a[11C]-methyl-L-tryptophan (AMT) PET uptake in epileptogenic cortical tubers resected from patients with tuberous sclerosis complex. Neurobiol Dis. 2018 Jan; 109(Pt A):76-87.

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Kumari K, Sharma MC, Kakkar A, Malgulwar PB, Pathak P, Suri V, Sarkar C, Chandra SP, Faruq M, Gupta RK, Saran RK. Role of mTOR signaling pathway in the pathogenesis of subependymal giant cell astrocytoma - A study of 28 cases. Neurol India. 2016 Sep-Oct; 64(5):988-94.

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Ess KC, Chugani HT. Dynamic tubers in tuberous sclerosis complex: A window for intervention? Neurology. 2015 Nov 03; 85(18):1530-1.

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Asadi-Pooya AA, Rakei SM, Kamgarpour A, Taghipour M, Ashjazadeh N, Razmkon A, Zare Z, Bagheri MH. Outcome after temporal lobectomy in patients with medically-refractory mesial temporal epilepsy in Iran. J Neurosurg Sci. 2017 Jun; 61(3):277-282.

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Dombkowski AA, Batista CE, Cukovic D, Carruthers NJ, Ranganathan R, Shukla U, Stemmer PM, Chugani HT, Chugani DC. Cortical Tubers: Windows into Dysregulation of Epilepsy Risk and Synaptic Signaling Genes by MicroRNAs. Cereb Cortex. 2016 Mar; 26(3):1059-71.

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Thiele EA, Granata T, Matricardi S, Chugani HT. Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis. Epilepsia. 2014 Aug; 55 Suppl 3:29-33.

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