Tuberous sclerosis

Información en español Title

Other Names:

Tuberous sclerosis complex; Tuberous sclerosis 1

Categories:

Blood Diseases; Congenital and Genetic Diseases; Eye diseases; Blood Diseases; Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases; Nervous System Diseases; Rare Cancers; Skin Diseases See More

Summary Summary

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] Treatment depends on the symptoms in each individual case and may include medications or surgery.^[2]

Last updated: 5/19/2016

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Angiofibromas		0010615
EEG abnormality		0002353
Papule		0200034
Prominent occiput	Prominent back of the skull Prominent posterior skull [ more ]	0000269
Skin tags		0010609
Subependymal giant-cell astrocytoma		0009718
Subependymal nodules		0009716
Ungual fibroma		0100804
30%-79% of people have these symptoms
Achromatic retinal patches		0009727
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Confetti-like hypopigmented macules		0007449
Cortical dysplasia		0002539
Global developmental delay		0001263
Hypopigmented skin patches		0001053
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Multiple cafe-au-lait spots		0007565
Nevus flammeus	port-wine stain	0001052
Optic atrophy		0000648
Retinal hamartoma		0009594
Seizures	Seizure	0001250
Shagreen patch		0009721
5%-29% of people have these symptoms
Abnormality of the liver	Abnormal liver Liver abnormality [ more ]	0001392
Aplasia/Hypoplasia of the corpus callosum		0007370
Arrhythmia	Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat [ more ]	0011675
Cardiac rhabdomyoma		0009729
Cerebral calcification	Abnormal deposits of calcium in the brain	0002514
Chylothorax		0010310
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Dental enamel pits	Pitting of tooth enamel Tooth enamel pits [ more ]	0009722
Dilatation		0002617
Emphysema		0002097
Gingival fibromatosis		0000169
Gingivitis	Inflamed gums Red and swollen gums [ more ]	0000230
Hypothyroidism	Underactive thyroid	0000821
Increased intracranial pressure		0002516
Iris coloboma	Cat eye	0000612
Macrodactyly	Finger overgrowth	0004099
Multiple renal cysts	Multiple kidney cysts	0005562
Neoplasm of the pancreas	Cancer of the pancreas Pancreatic tumor [ more ]	0002894
Pneumothorax	Collapsed lung	0002107
Precocious puberty	Early onset of puberty Early puberty [ more ]	0000826
Pulmonary lymphangiomyomatosis		0012798
Renal angiomyolipoma		0006772
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Respiratory insufficiency	Respiratory impairment	0002093
Percent of people who have these symptoms is not available through HPO
Abnormality of the respiratory system		0002086
Astrocytoma		0009592
Attention deficit hyperactivity disorder	Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ]	0007018
Autism		0000717
Autosomal dominant inheritance		0000006
Cafe-au-lait spot		0000957
Chordoma		0010762
Ependymoma		0002888
Hypomelanotic macule		0009719
Infantile spasms		0012469
Optic nerve glioma		0009734
Premature chromatid separation		0200024
Projection of scalp hair onto lateral cheek	Hair growing down to cheek	0009554
Renal cell carcinoma		0005584
Renal cyst		0000107
Specific learning disability		0001328
Subcutaneous nodule	Firm lump under the skin	0001482
Subungual fibromas		0009724
Wolff-Parkinson-White syndrome		0001716

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/2/2018

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Everolimus (Brand name: Afinitor) - Manufactured by Novartis Pharmaceuticals Corporation
FDA-approved indication: April 2018 approved for the adjunctive treatment of adult and pediatric patients age 2 years and older with tuberous sclerosis complex (TSC)-associated partial-onset seizures. April 2012 approved for the treatment of adults with renal angiomyolipoma and tuberous sclerosis complex (TSC) not requiring immediate surgery. October 2010 approved for the treatment of patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis who require therapeutic intervention but are not candidates for curative surgical resection.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
vigabatrin (Brand name: Sabril) - Manufactured by Lundbeck
FDA-approved indication: For infantile spasms (IS) 1 month to 2 years of age
National Library of Medicine Drug Information Portal
Medline Plus Health Information

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis includes vitiligo, Ito hypomelanosis, cardiac myxoma, isolated brain tumors, pulmonary emphysema, acne, skin rash. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Tuberous sclerosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

The Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations Consortium is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research on Tuberous Sclerosis Complex (TSC1 and TSC2 genes), PTEN ASD/ID syndrome and Phelan-McDermid syndrome (PMS; SHANK3 gene). The Consortium has a contact registry for patients who wish to be contacted about clinical research opportunities and updates on the progress of the research projects.

For more information on the registry see: https://www.rarediseasesnetwork.org/registry/index.htm

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Tuberous Sclerosis Alliance
801 Roeder RD, Suite 750
Silver Spring, MD 20910
Toll-free: 800-225-6872
Telephone: 301-562-9890
Fax: 301-562-9870
E-mail: info@tsalliance.org
Website: http://www.tsalliance.org/

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

Patient Access Network Foundation (PAN Foundation) has Assistance Programs for those with health insurance who reside in the United States. The disease fund status can change over time, so you may need to check back if funds are not currently available.

Education Resources

The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
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.

News & Events News & Events

NCATS Co-Sponsored Conferences

2015 International Tuberous Sclerosis Complex Research Conference: From Treatment to Prevention Thursday, September 10, 2015 - Saturday, September 12, 2015
Location: Mercure Windsor Castle Hotel, Windsor, United Kingdom
Description: The goal of this international conference is to stimulate collaborative research to address unmet medical needs of those affected by tuberous sclerosis complex (TSC) and related disorders, including autism, epilepsy, lymphangioleiomyomatosis (LAM), cancer, and rare diseases with overlapping phenotypes. Because of the wide variety of symptoms associated with TSC, research into TSC will increase knowledge relevant to similar symptoms that occur in individuals without TSC. Likewise, advances in the broader fields of autism, epilepsy, and cancer can improve the understanding and, therefore, the treatment of TSC.

Contact: Dr. Laura Mamounas,(301) 496-5745,mamounal@ninds.nih.gov

Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
Gordon Research Conference and Gordon Research Seminar on Lysosomes and Endocytosis Sunday, June 15, 2014 - Friday, June 20, 2014
Location: Proctor Academy, Andover, NH
Description: The main goal of the Lysosomes and Endocytosis GRC is to foster the dissemination of current research results and the establishment of new research areas and new collaborations in the area of the cell biology of endocytosis, lysosomes, endosomes and related organelles. We hope that many of these new directions and collaborations will be directed toward the etiology, diagnosis and treatment of rare genetic diseases such as lysosomal storage disorders, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Niemann Pick disease and tuberous sclerosis, among others.

Contact: Alexandra Ainsztein, Ph.D.(301) 594-0828, Alexandra.Ainsztein@nih.gov

Co-funding Institute(s): National Institute of General Medical Sciences, Office of Rare Diseases Research

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Can tuberous sclerosis affect blinking and eye closure? If not, what could cause this? See answer

Have a question? Contact a GARD Information Specialist.

References References

Tuberous Sclerosis Complex. Genetics Home Reference. December 2013; http://www.ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex.
Northrup H, Koenig MK, Pearson DA, Au K-S. Tuberous Sclerosis Complex. GeneReviews. September 3, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1220/.

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