Tuberous Sclerosis

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Tuberous Sclerosis is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. The disorder can cause a wide range of potential signs and symptoms and is associated with the formation of benign (non-cancerous) tumors in various organ systems of the body. The skin, brain, eyes, heart, kidneys and lungs are frequently affected. These tumors are often referred to as hamartomas. Hamartoma is a general term for a tumor or tumor-like growth that is made up of cells normally found in the area of the body where the hamartoma forms. Hamartomas are not malignant; they do not metastasize and spread to other areas of the body. However, these abnormal growths can grow larger and can damage the affected organ system. The number, size, and specific location of these abnormal growths in individuals with tuberous sclerosis can vary widely and consequently the severity of the disorder can vary widely as well. Tuberous sclerosis results from alterations (mutations) in a gene or genes that may occur spontaneously (sporadically) for unknown reasons or be inherited as an autosomal dominant trait. Most cases represent new (sporadic or de novo) gene mutations, with no family history of the disease. Mutations of at least two different genes are known to cause tuberous sclerosis, the TSC1 gene or the TSC2 gene.

Supporting Organizations

Cancer.Net

American Society of Clinical Oncology
2318 Mill Road Suite 800
Alexandria, VA 22314
Tel: (571)483-1780
Fax: (571)366-9537
Tel: (888)651-3038
Email: contactus@cancer.net
Website: http://www.cancer.net/

Epilepsy Foundation

8301 Professional Place
Landover, MD 20785-7223
Tel: (866)330-2718
Fax: (877)687-4878
Tel: (800)332-1000
Email: ContactUs@efa.org
Website: http://www.epilepsyfoundation.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

LAM Health Project

1909 Capitol Avenue,
Suite 203
Sacramento, CA 95811
Tel: (617)460-7339
Fax: (617)864-0614
Email: info@LAMHealthProject.org
Website: http://www.lamhealthproject.org/

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Website: http://www.ninds.nih.gov/

Rothberg Institute For Childhood Diseases

530 Whitfield Street
Guilford, CT 6437
USA
Tel: (203)458-7100
Fax: (203)458-2514
Email: info@childhooddiseases.org
Website: http://www.childhooddiseases.org

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

Tuberous Sclerosis Alliance

801 Roeder Road
Suite 750
Silver Spring, MD 20910
US
Tel: 3015629890
Fax: 3015629870
Tel: 8002256872
Email: info@tsalliance.org
Website: http://www.tsalliance.org

Tuberous Sclerosis Association

Toad Hall
White Rose Lane
Surrey, GU22 7LB
United Kingdom
Tel: 4401214456970
Email: development-support@tuberous-sclerosis.org
Website: http://www.tuberous-sclerosis.org

Tuberous Sclerosis Canada Sclerose Tubereuse

92 Caplan Ave
Suite 125 Barrie
L4N 0Z7
Canada
Tel: 8882232410
Email: TSCanadaST@gmail.com
Website: http://www.tscanada.ca

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  3/7/2016
Copyright  2016 National Organization for Rare Disorders, Inc.