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.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
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
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I was diagnosed with a renal oncocytoma in 2013. Recently I had a lower back MRI and the tumor showed up. Apparently it is now over 5 centimeters in size. How big can these tumors get? Is there ever a time when they need to be removed because of their size? See answer