The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Angiofibromas | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Papule | Very frequent (present in 80%-99% of cases) |
| Prominent occiput | Very frequent (present in 80%-99% of cases) |
| Skin tags | Very frequent (present in 80%-99% of cases) |
| Subependymal giant-cell astrocytoma | Very frequent (present in 80%-99% of cases) |
| Subependymal nodules | Very frequent (present in 80%-99% of cases) |
| Ungual fibroma | Very frequent (present in 80%-99% of cases) |
| Achromatic retinal patches | Frequent (present in 30%-79% of cases) |
| Behavioral abnormality | Frequent (present in 30%-79% of cases) |
| Confetti-like hypopigmented macules | Frequent (present in 30%-79% of cases) |
| Cortical dysplasia | Frequent (present in 30%-79% of cases) |
| Hypopigmented skin patches | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Multiple cafe-au-lait spots | Frequent (present in 30%-79% of cases) |
| Nevus flammeus | Frequent (present in 30%-79% of cases) |
| Optic atrophy | Frequent (present in 30%-79% of cases) |
| Retinal hamartoma | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Shagreen patch | Frequent (present in 30%-79% of cases) |
| Abnormality of the liver | Occasional (present in 5%-29% of cases) |
| Aplasia/Hypoplasia of the |
Occasional (present in 5%-29% of cases) |
| Arrhythmia | Occasional (present in 5%-29% of cases) |
| Cardiac rhabdomyoma | Occasional (present in 5%-29% of cases) |
| Cerebral calcification | Occasional (present in 5%-29% of cases) |
| Chylothorax | Occasional (present in 5%-29% of cases) |
| Congestive heart failure | Occasional (present in 5%-29% of cases) |
| Dental enamel pits | Occasional (present in 5%-29% of cases) |
| Dilatation | Occasional (present in 5%-29% of cases) |
| Emphysema | Occasional (present in 5%-29% of cases) |
| Gingival fibromatosis | Occasional (present in 5%-29% of cases) |
| Gingivitis | Occasional (present in 5%-29% of cases) |
| Hypothyroidism | Occasional (present in 5%-29% of cases) |
| Increased intracranial pressure | Occasional (present in 5%-29% of cases) |
| Iris coloboma | Occasional (present in 5%-29% of cases) |
| Multiple renal cysts | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Pneumothorax | Occasional (present in 5%-29% of cases) |
| Precocious puberty | Occasional (present in 5%-29% of cases) |
| Pulmonary lymphangiomyomatosis | Occasional (present in 5%-29% of cases) |
| Renal angiomyolipoma | Occasional (present in 5%-29% of cases) |
| Renal insufficiency | Occasional (present in 5%-29% of cases) |
| Respiratory insufficiency | Occasional (present in 5%-29% of cases) |
| Abnormality of the respiratory system | - |
| Astrocytoma | - |
| Attention deficit hyperactivity disorder | - |
| - | |
| - | |
| Cafe-au-lait spot | - |
| Chordoma | - |
| Ependymoma | - |
| Heterogeneous | - |
| Hypomelanotic macule | - |
| Infantile spasms | - |
| Optic glioma | - |
| Phenotypic variability | - |
| Premature |
- |
| Projection of scalp hair onto lateral cheek | - |
| Renal cell carcinoma | - |
| Renal cyst | - |
| Specific learning disability | - |
| Subcutaneous nodule | - |
| Subungual fibromas | - |
| Wolff-Parkinson-White |
- |
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.
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.
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.
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.
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.
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
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
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Can tuberous sclerosis affect blinking and eye closure? If not, what could cause this? See answer
