 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 | 0 | 2 | 2 | | 2009 | 0 | 1 | 1 | | 2010 | 1 | 0 | 1 | | 2011 | 0 | 2 | 2 | | 2012 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2017 | 2 | 0 | 2 |
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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Siroky BJ, Towbin AJ, Trout AT, Schäfer H, Thamann AR, Agricola KD, Tudor C, Capal J, Dixon BP, Krueger DA, Franz DN. Improvement in Renal Cystic Disease of Tuberous Sclerosis Complex After Treatment with Mammalian Target of Rapamycin Inhibitor. J Pediatr. 2017 08; 187:318-322.e2.
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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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Warncke JC, Brodie KE, Grantham EC, Catarinicchia SP, Tong S, Kondo KL, Cost NG. Pediatric Renal Angiomyolipomas in Tuberous Sclerosis Complex. J Urol. 2017 02; 197(2):500-506.
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Rabban JT, Firetag B, Sangoi AR, Post MD, Zaloudek CJ. Incidental Pelvic and Para-aortic Lymph Node Lymphangioleiomyomatosis Detected During Surgical Staging of Pelvic Cancer in Women Without Symptomatic Pulmonary Lymphangioleiomyomatosis or Tuberous Sclerosis Complex. Am J Surg Pathol. 2015 Aug; 39(8):1015-25.
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Siroky BJ, Yin H, Dixon BP, Reichert RJ, Hellmann AR, Ramkumar T, Tsuchihashi Z, Bunni M, Dillon J, Bell PD, Sampson JR, Bissler JJ. Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy. Am J Physiol Renal Physiol. 2014 Sep 01; 307(5):F560-70.
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Siroky BJ, Yin H, Babcock JT, Lu L, Hellmann AR, Dixon BP, Quilliam LA, Bissler JJ. Human TSC-associated renal angiomyolipoma cells are hypersensitive to ER stress. Am J Physiol Renal Physiol. 2012 Sep 15; 303(6):F831-44.
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Gladstone M, Su TT. Chemical genetics and drug screening in Drosophila cancer models. J Genet Genomics. 2011 Oct 20; 38(10):497-504.
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Brooks-Kayal A. Molecular mechanisms of cognitive and behavioral comorbidities of epilepsy in children. Epilepsia. 2011 Jan; 52 Suppl 1:13-20.
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Dixon BP, Hulbert JC, Bissler JJ. Tuberous sclerosis complex renal disease. Nephron Exp Nephrol. 2011; 118(1):e15-20.
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Waldau B, Domeshek LF, Leigh FA, Lum KC, Fuchs HE, Marcus JR, Mukundan S, Grant GA. Spontaneous resolution of a 13-mm Chiari malformation Type I in relation to differential growth of the posterior fossa volume. J Neurosurg Pediatr. 2009 Feb; 3(2):110-4.
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