Diseases

Tuberous Sclerosis

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Related Concepts

Knowledge Graph

Loading graph…

Drag nodes to rearrange; hover to trace links; click a node to open its page.

MeSH Record

See Also

MeSH Record

Synonyms

27 entry terms
  • 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
  • Bourneville Phacomatosis
  • Bourneville Pringle Disease
  • Bourneville Pringle's Disease
  • Bourneville-Pringles Disease
  • Cerebral Scleroses
  • Disease, Bourneville-Pringle
  • Disease, Bourneville-Pringle's
  • Sclerosis, Cerebral
  • Sclerosis, Tuberose
  • Sclerosis, Tuberous
  • Syndrome, Bourneville
  • Syndrome, Bourneville's
  • Adenoma Sebaceum

MeSH Record

Aspects Covered

35 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, congenital, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Hierarchy

Tree Numbers

  1. C04w.445w.810w
  2. C04w.651.800w
  3. C04w.700w.700w
  4. C10w.500w.507.400.750w
  5. C10w.562w.850w
  6. C10w.574w.500.865w
  7. C16w.131w.666w.507.400.750w
  8. C16w.320w.400.880w
  9. C16w.320w.700w.700w

MeSH Record

NLM Classification

QS 675

AMA Style

References

  1. National Library of Medicine. Tuberous Sclerosis. Medical Subject Headings (MeSH). 2026. Unique ID D014402. http://id.nlm.nih.gov/mesh/2026/D014402
  2. Tuberous Sclerosis. In: Wikipedia. https://en.wikipedia.org/wiki/Tuberous_sclerosis
  3. Tuberous Sclerosis. In: Wikidata. https://www.wikidata.org/wiki/Q1362721