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 May 2026
Newly diagnosed with
Tuberous sclerosis complex?
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Advocacy Organizations
Access to Life NGO
Our mission is to improve the lives of people affected by genetic epilepsies by empowering patients and families, advancing access to diagnosis and treatment, supporting research, and advocating for equitable, patient-centered care in Ukraine in alignment with global rare disease standards.
Cache DNA
At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.
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
FamilieSCN2A Foundation
Our MISSION is to accelerate research, build community and advocate to improve the lives of those affected by SCN2A-related disorders around the world.
Genetic Epilepsy Team Australia
Collaboration of research and care
Helping Swans Co.
Promoting disability awareness and inclusion through education and support services. They highlight rare and undiagnosed diseases and provide initiatives in schools, hospitals, and other organizations to create a more inclusive world. The organization was founded by a disabled Latina mother of a rare child with autism, with a focus on diversity and underrepresented communities.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
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.
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.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
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.
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.
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.
The SHANK2 Foundation
To improve the quality of life for individuals affected by SHANK2 disorders
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.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.