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Genetic and Rare Diseases Information Center (GARD)

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Tuberous sclerosis


Other Names for this Disease

  • Tuberous sclerosis 1
  • Tuberous sclerosis complex
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Tuberous sclerosis is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. Common signs and symptoms include patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Tumors may cause developmental problems (e.g., seizures, hyperactivity, aggression, learning problems, autistic-like behaviors). Some tumors can cause serious complications (e.g., those affecting the brain, heart, or kidney). Tuberous sclerosis complex has an autosomal dominant pattern of inheritance and can be caused by mutations in the TSC1 or TSC2 gene.[1]
Last updated: 10/29/2010

References

  1. Tuberous Sclerosis Complex. Genetics Home Reference. June 2009; http://www.ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex. Accessed 10/29/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Tuberous sclerosis. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Tuberous sclerosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Tuberous sclerosis 1
  • Tuberous sclerosis complex
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.