 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 |
|---|
| 2002 | 1 | 0 | 1 | | 2006 | 1 | 0 | 1 | | 2007 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2015 | 1 | 1 | 2 | | 2016 | 2 | 1 | 3 |
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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Kingswood JC, Bissler JJ, Budde K, Hulbert J, Guay-Woodford L, Sampson JR, Sauter M, Cox J, Patel U, Elmslie F, Anderson C, Zonnenberg BA. Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study. Nephron. 2016; 134(2):51-58.
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Origlieri C, Geddie B, Karwoski B, Berl MM, Elling N, McClintock W, Alexander J, Bazemore M, de Beaufort H, Hutcheson K, Miller M, Taylormoore J, Jaafar MS, Madigan W. Optical coherence tomography to monitor vigabatrin toxicity in children. J AAPOS. 2016 Apr; 20(2):136-40.
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Jancic J, Duric V, Ivancevic N, Nikolic B, van den Anker JN, Samardzic J. Current Use of mTOR Inhibitors for the Treatment of Subependymal Giant Cell Astrocytomas and Epilepsy in Patients with TSC. Curr Med Chem. 2016; 23(37):4260-4269.
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Vézina G. Neuroimaging of phakomatoses: overview and advances. Pediatr Radiol. 2015 Sep; 45 Suppl 3:S433-42.
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Cramer MT, Guay-Woodford LM. Cystic kidney disease: a primer. Adv Chronic Kidney Dis. 2015 Jul; 22(4):297-305.
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Humphrey A, MacLean C, Ploubidis GB, Granader Y, Clifford M, Haslop M, Neville BG, Yates JR, Bolton PF. Intellectual development before and after the onset of infantile spasms: a controlled prospective longitudinal study in tuberous sclerosis. Epilepsia. 2014 Jan; 55(1):108-16.
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Granader YE, Bender HA, Zemon V, Rathi S, Nass R, Macallister WS. The clinical utility of the Social Responsiveness Scale and Social Communication Questionnaire in tuberous sclerosis complex. Epilepsy Behav. 2010 Jul; 18(3):262-6.
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Storm PB, Magge SN, Kazahaya K, Sutton LN. Cervical chordoma in a patient with tuberous sclerosis presenting with shoulder pain. Pediatr Neurosurg. 2007; 43(2):167-9.
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Rosser T, Panigrahy A, McClintock W. The diverse clinical manifestations of tuberous sclerosis complex: a review. Semin Pediatr Neurol. 2006 Mar; 13(1):27-36.
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McClintock WM. Neurologic manifestations of tuberous sclerosis complex. Curr Neurol Neurosci Rep. 2002 Mar; 2(2):158-63.
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