Synonyms: CTX | Sterol 27-hydroxylase deficiency
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis childhood-onset cataract adolescent to young adult-onset tendon xanthomata and brain xanthomata with adult-onset neurologic dysfunction.
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 July 2026
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Cerebrotendinous xanthomatosis?
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Advocacy Organizations
Access to Life NGO
Access to Life is Ukraine’s first patient advocacy organization for rare genetic epilepsies, anchored in Dravet syndrome and SCN1A-related conditions. We support 600+ families nationwide, advocate for a national clinical protocol and drug access, and are building Ukraine’s National Patient Resource Centre and Patient Registry for genetic epilepsies.
Alex, The Leukodystrophy Charity
Support and access to treatment for everyone living with leukodystrophy Provide support for those living with leukodystrophy, and their families/carers Raise awareness of leukodystrophy Improve best practice in prevention, diagnosis & treatment Support research initiatives
Ataxia and me
To relieve the needs of sufferers of Ataxia or other neurological disorders, their families and carers for the public benefit by providing patient led support and by raising awareness of such conditions."
Biliary Atresia and Liver Care Africa
To create awareness, provide support, and advocate for better healthcare services for individuals and families affected by biliary atresia and liver diseases.
Charcot-Marie-Tooth Association
Our mission … to support the development of new treatments for CMT, to improve the quality of life for people with CMT, and, ultimately, to find a cure. Our vision … a world without CMT. CMTA was started by patients in 1986, and to this day is powered by a community of patients who are engaged in helping carry out and support our mission.
Childhood Dementia Initiative
Our vision is for sustainable global health solutions for childhood dementia. This will be achieved through the following outcomes: - Treatments and cures available for children with dementia - Access to equitable and quality care for children with dementia and their families - Childhood dementia is a global health policy priority.
Cure LBSL
Our Mission Find a cure for LBSL, advance awareness of the disease, and support patients, families, and medical providers confronted with this ultra-rare condition.
Ducks For Dementia
Ducks For Dementia, founded on the profound compassion and vision of a young boy named David, aims to bring solace and understanding to individuals with dementia and their families. Our mission is rooted in the distribution of toy ducks as symbols of comfort, which serve not only as therapeutic aids but also as beacons of joy and companionship for those navigating the complexities of dementia.
Genetic Epilepsy Team Australia
Collaboration of research and care
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Legacy Bridges Foundation, Inc
The Legacy Bridges Foundation, Inc. is a 501(c)3 non-profit organization founded to bridge the gap to support, educate and advocate for individuals, families and caregivers of those living with epilepsy and other seizure related disorders. The Legacy Bridges Foundation, Inc. is dedicated to helping champions live a sustainable life through participation of essential supportive programs and service
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
National Ataxia Foundation
To accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia.
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 Foundation
ReNU2 Foundation supports families affected by RNU2-2-related neurodevelopmental disease. We foster collaboration, raise awareness, and advance research—pursuing a world where every family has testing, informed care, community, and treatment.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
United Leukodystrophy Foundation
OUR MISSION is to provide support to the leukodystrophy community and enable platforms to accelerate improving patient quality of life and finding cures.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.