Tuberous sclerosis complex
Synonyms: Bourneville syndrome | Tuberous sclerosis
A rare neurocutaneous disorder characterized by multisystem hamartomas most commonly involving the skin brain kidneys lungs eye and heart and associated with neuropsychiatric disorders.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Tuberous sclerosis complex?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
TSC Alliance
The TSC Alliance® is an internationally recognized nonprofit that does everything it takes to improve the lives of people with tuberous sclerosis complex (TSC). We drive research, increase care quality, improve access, inspire hope and advocate with and for all affected by the disease.
Tuberous Sclerosis Australia
To help create a better life and more hopeful future for everyone in Australia affected by Tuberous Sclerosis Complex (TSC) by providing knowledge, support and connection.
Tuberous Sclerosis Australia
To help create a better life and more hopeful future for everyone in Australia affected by Tuberous Sclerosis Complex (TSC) by providing knowledge, support and connection.
TRND Network
The TRND Network is dedicated to supporting patients and their loved ones by providing advocacy and support, advancing research, and creating collaboration between researchers and patients.
TRND Network
The TRND Network is dedicated to supporting patients and their loved ones by providing advocacy and support, advancing research, and creating collaboration between researchers and patients.
Genetic Epilepsy Team Australia
Collaboration of research and care
MAST Genes Research Foundation
Connecting families and fueling research into microtubule-associated serine/threonine kinase (MAST) genetic mutations to improve the quality of life and develop therapies to support affected patients and families.
SCN2A Foundation
The SCN2A Foundation is a global initiative dedicated towards accelerating research and treatment for SCN2A. We plan to achieve this by building collaborative networks among the global research community, organizing resources, and strategically investing in highly focused research directed towards therapeutic development.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
My Faulty Gene
My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.
My Little Sunshine Foundation
My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.
SALUS
Educate and provide resources to POC with Rare Cancers
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Project FAVA
Project FAVA is a 501(c)(3) non-profit patient advocacy group that promotes awareness of fibro-adipose vascular anomalies, educates patients, their families, and the global community, and provides helpful resources to those with FAVA. Project FAVA also advances research to move the needle towards more effective and less invasive treatment options for FAVA patients.
Collaborative Research Advocacy for Vascular Anomalies Network (CaRAVAN)
As the research-based umbrella organization for all vascular anomalies, we are on a mission to develop a unified network of patients and their families, advocates, researchers, and clinicians who influence research from initial concept and design to patient care delivery
Clinical Trials
For a list of clinical trials in this disease area, please click here.