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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


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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


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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.

Showing of 68 |
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
Patchy loss of skin color
0001053
Intellectual disability
Mental-retardation
Mental retardation, nonspecific
Mental retardation
Mental deficiency
[ 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
Wider than typical opening or gap
0002617
Emphysema 0002097
Gingival fibromatosis 0000169
Gingivitis
Inflamed gums
Red and swollen gums
[ more ]
0000230
Hypothyroidism
Underactive thyroid
0000821
Increased intracranial pressure
Rise in pressure inside skull
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
1%-4% of people have these symptoms
Autism 0000717
Infantile spasms 0012469
Percent of people who have these symptoms is not available through HPO
Abnormality of the respiratory system 0002086
Adenoma sebaceum 0009720
Astrocytoma 0009592
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ]
0007018
Autosomal dominant inheritance 0000006
Cafe-au-lait spot 0000957
Chordoma 0010762
Cortical tubers 0009717
Ependymoma 0002888
Epileptic spasms 0011097
Hemimegalencephaly 0007206
Hypomelanotic macule 0009719
Optic nerve glioma 0009734
Preauricular hair displacement
Hair growing down to cheek
Projection of scalp hair onto lateral cheek
[ more ]
0009554
Premature chromatid separation 0200024
Renal cell carcinoma
Cancer starting in small tubes in kidneys
0005584
Renal cyst
Kidney cyst
0000107
Specific learning disability 0001328
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ]
0001482
Subungual fibromas 0009724
Wolff-Parkinson-White syndrome 0001716
Showing of 68 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 12/1/2019
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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


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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


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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


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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


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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


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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 (TS Alliance)
    801 Roeder RD, Suite 750
    Silver Spring, MD 20910-4487
    Toll-free: 1-800-225-6872
    Telephone: +1-301-562-9890
    Fax: +1-301-562-9870
    E-mail: info@tsalliance.org
    Website: https://www.tsalliance.org/
    For immediate support or information, please email Dena Hook at dhook@tsalliance.org.
Do you know of an organization? We want to hear from you.

Living With Living With


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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


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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. 
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Tuberous sclerosis in a table called Phenotypic Series. Each entry in OMIM includes 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.

GARD Answers GARD Answers


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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


  1. Tuberous Sclerosis Complex. Genetics Home Reference. December 2013; http://www.ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex.
  2. Northrup H, Koenig MK, Pearson DA, Au K-S. Tuberous Sclerosis Complex. GeneReviews. September 3, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1220/.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

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