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||
|80%-99% of people have these symptoms|
Prominent back of the skull
Prominent posterior skull[ more ]
|Subependymal giant-cell astrocytoma||0009718|
|30%-79% of people have these symptoms|
|Achromatic retinal patches||0009727|
Psychiatric disturbances[ more ]
|Confetti-like hypopigmented macules||0007449|
|Hypopigmented skin patches||0001053|
Mental retardation, nonspecific
Mental retardation[ more ]
|Multiple cafe-au-lait spots||0007565|
|5%-29% of people have these symptoms|
|Abnormality of the liver||
Liver abnormality[ more ]
|Aplasia/Hypoplasia of the
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat[ more ]
|Congestive heart failure||
Heart failure[ more ]
|Dental enamel pits||
Pitting of tooth enamel
Tooth enamel pits[ more ]
Red and swollen gums[ more ]
|Increased intracranial pressure||0002516|
|Multiple renal cysts||
Multiple kidney cysts
Cancer of the pancreas
Pancreatic tumor[ more ]
Early onset of puberty
Early puberty[ more ]
Renal failure in adulthood[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the respiratory system||0002086|
|Attention deficit hyperactivity disorder||
Attention deficit disorder
Attention deficit-hyperactivity disorder
Childhood attention deficit/hyperactivity disorder[ more ]
|Optic nerve glioma||0009734|
|Projection of scalp hair onto lateral cheek||
Hair growing down to cheek
|Renal cell carcinoma||0005584|
|Specific learning disability||0001328|
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.
Learn more orphan products.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 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,firstname.lastname@example.org
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