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Tuberous Sclerosis MeSH Descriptor Data 2021


MeSH Heading
Tuberous Sclerosis
Tree Number(s)
C04.445.810
C04.651.800
C04.700.700
C10.500.507.400.750
C10.562.850
C10.574.500.865
C16.131.666.507.400.750
C16.320.400.880
C16.320.700.700
Unique ID
D014402
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D014402
Scope Note
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.
Entry Term(s)
Adenoma Sebaceum
Bourneville Disease
Bourneville Phakomatosis
Bourneville Syndrome
Bourneville's Disease
Bourneville's Syndrome
Bourneville-Pringle Disease
Bourneville-Pringle's Disease
Cerebral Sclerosis
Epiloia
Phacomatosis, Bourneville
Phakomatosis, Bourneville
Sclerosis Tuberosa
Tuberose Sclerosis
Tuberous Sclerosis Complex
NLM Classification #
QS 675
Date Established
1966/01/01
Date of Entry
1999/01/01
Revision Date
2018/06/29
Tuberous Sclerosis Preferred
Adenoma Sebaceum Narrower
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