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Disease Profile
Tuberous sclerosis complex
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100,000
Age of onset
All ages
ICD-10
Q85.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Tuberose sclerosis; TSC; Bourneville disease; Bourneville phakomatosis; Cerebral sclerosis; Sclerosis tuberosa
Categories
Blood Diseases; Congenital and Genetic Diseases; Eye diseases;
Summary
Tuberous sclerosis complex (TSC) is characterized by the growth of benign tumors throughout the body, including in the heart, brain, and kidneys. Certain symptoms develop before to birth, such as heart tumors (rhabdomyoma). Other symptoms become more obvious in childhood, such as developmental delay and skin changes. Lung and kidney tumors are more likely to develop in adulthood. TSC is caused by the TSC1 or TSC2 gene not working correctly. It is inherited in an autosomal dominant pattern. This condition is diagnosed based on a clinical exam, medical tests such as imaging studies, and genetic testing. Treatment is based on managing the symptoms, and includes medications and surgery.[1][2][3][4]
Symptoms
Signs and symptoms include:
Skin findings:
- Small bumps made up of blood vessels (angiofibromas)
- Patches of thickened, rough skin (shagreen patches)
- Growths under the fingernails and toenails (ungual fibromas)
- Light colored skin patches (hypomelanonic macules)
Brain findings:
- Benign brain tumor (astrocytoma)
- Abnormal organization of the brain (cortical dysplasia)
- Nodules in the brain (subependymal nodules)
- Seizures
Other systems:
- Benign growth in the retina (retinal hamartoma)
- Heart muscle tumor (cardiac rhabdomyoma)
- Formation of unusual clumps of cells in the lungs (pulmonary lymphangiomyomatosis)
- Kidney growths (renal angiomyolipoma)
- Developmental delay
- Intellectual disability
- Behavioral issues
Symptoms of tuberous sclerosis complex begin before birth and might be noted on ultrasound, such as tumors in the brain and heart (subependymal nodules and cardiac rhabdomyomas). Seizures, intellectual disability, and developmental delay usually appear in childhood. Other symptoms that might develop in childhood include skin changes and kidney symptoms caused by tumors. Brain tumors usually grow during childhood and in teen years, which may lead to other concerns, such as hydrocephalus. In adulthood, kidney and pulmonary symptoms become more common.[3][6]
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.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Cortical dysplasia | 0002539 | |
| Cortical tubers | 0009717 | |
| Generalized abnormality of skin |
Generalised abnormality of skin
|
0011354 |
| Hypomelanotic macule | 0009719 | |
| Subependymal nodules | 0009716 | |
| 30%-79% of people have these symptoms | ||
| Abnormal social behavior |
Abnormal social behaviour
|
0012433 |
| Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
| Angiofibromas | 0010615 | |
| Autism | 0000717 | |
| Cardiac rhabdomyoma | 0009729 | |
| Chorioretinal hypopigmentation | 0040030 | |
| Confetti-like hypopigmented macules | 0007449 | |
| Depressivity |
Depression
|
0000716 |
| Focal-onset seizure |
Seizure affecting one half of brain
|
0007359 |
| Impulsivity |
Impulsive
|
0100710 |
| Infantile spasms | 0012469 | |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
| Neurodevelopmental delay | 0012758 | |
| Pulmonary lymphangiomyomatosis | 0012798 | |
| Repetitive compulsive behavior | 0008762 | |
| Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
| Shagreen patch | 0009721 | |
| Skin plaque | 0200035 | |
| Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
| Specific learning disability | 0001328 | |
| Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
| 5%-29% of people have these symptoms | ||
| Anxiety |
Excessive, persistent worry and fear
|
0000739 |
| Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
| Epidermoid cyst |
Skin cyst
|
0200040 |
| Hemoptysis |
Coughing up blood
|
0002105 |
| Hepatic cysts |
Liver cysts
|
0001407 |
| Hypertension | 0000822 | |
| Noncommunicating hydrocephalus | 0010953 | |
| Poor speech | 0002465 | |
| Renal angiomyolipoma | 0006772 | |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
| Respiratory tract infection |
Respiratory infection
|
0011947 |
| Subependymal giant-cell astrocytoma | 0009718 | |
| Ungual fibroma | 0100804 | |
| 1%-4% of people have these symptoms | ||
| Aortic aneurysm |
Bulge in wall of large artery that carries blood away from heart
|
0004942 |
| Carcinoid tumor | 0100570 | |
| Internal hemorrhage |
Internal bleeding
|
0011029 |
| Pancreatic endocrine tumor | 0030405 | |
| Parathyroid adenoma | 0002897 | |
| Parathyroid hyperplasia |
Enlarged parathyroid glands
|
0008208 |
| Pheochromocytoma | 0002666 | |
| Pituitary adenoma |
Noncancerous tumor in pituitary gland
|
0002893 |
| Polycystic kidney dysplasia | 0000113 | |
| Renal cell carcinoma |
Cancer starting in small tubes in kidneys
|
0005584 |
| Respiratory failure | 0002878 | |
| Retinal astrocytic hamartoma | 0012778 | |
| Stage 5 chronic kidney disease | 0003774 | |
Cause
Diagnosis
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
Specialists who may be involved in the care of someone with tuberous sclerosis complex include:
- Cardiologist
- Dermatologist
- Nephrologist
- Neurologist
- Ophthalmologist
- Pulmonologist
- Urologist
- Medical geneticist
- Dentist
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 - Epidiolex (cannabidiol) [CBD] oral solution is FDA approved for the treatment of seizures associated with tuberous sclerosis complex (TSC) in patients one year of age and older. Epidiolex was previously approved for the treatment of seizures associated with two rare and severe forms of epilepsy, Lennox-Gastaut syndrome (LGS) and Dravet syndrome (DS). This is the only FDA-approved drug that contains a purified drug substance derived from cannabis. It is also the second FDA approval of a drug for the treatment of seizures associated with TSC.
CBD is a chemical component of the Cannabis sativa plant. However, CBD does not cause intoxication or euphoria (the “high”) that comes from tetrahydrocannabinol (THC). It is THC (and not CBD) that is the primary psychoactive component of cannabis.
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.
|
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 (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: [email protected]
Website: https://www.tsalliance.org/
For immediate support or information, please email Dena Hook at [email protected].
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
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on Tuberous sclerosis complex. This website is maintained by the National Library of Medicine.
- 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.
- 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 complex. Click on the link to view a sample search on this topic.
References
- Northrup H, Krueger DA. International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013; 49(4):243-254. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080684/.
- Krueger DA, Northrup H. International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013; 49(4):255-265. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4058297/.
- Peron A, Canevini MP, Ghelma F, Di Marco F, Vignoli A. Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex. Am J Med Genet C Semin Med Genet. 2018; 178(3):355-364. https://pubmed.ncbi.nlm.nih.gov/30253036.
- Caban C, Khan N, Hasbani DM, Crino PB. Genetics of tuberous sclerosis complex: implications for clinical practice.. Appl Clin Genet. 2016; 10:1-8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5189696/.
- Northrup H, Koenig MK, Pearson DA, Au K-S. Tuberous Sclerosis Complex. GeneReviews. Updated Apr 16, 2020; https://www.ncbi.nlm.nih.gov/books/NBK1220/.
- De Waele L, Lagae L, Mekahli D. Tuberous sclerosis complex: the past and the future. Pediatr Nephrol. Oct 2015; 30(10):1771-80. https://www.ncbi.nlm.nih.gov/pubmed/25533384.
- Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol. May 2000; 57(5):662-5. https://www.ncbi.nlm.nih.gov/pubmed/10815131.
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