Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
CTX; Cerebral cholesterinosis; Sterol 27-hydroxylase deficiency
Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases;
Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body (lipid storage disease). People with this disorder cannot break down certain lipids effectively (such as cholesterol), so these fats form fatty yellow nodules called xanthomas, that accumulate in the body, especially in the brain and the tendons that attach muscle to bone, which is reflected in the condition name (cerebromeaning brain and -tendinous referring to tendons). Symptoms may include diarrhea, clouding of the lens of the eyes (
- Chronic diarrhea (infancy)
- Mental impairment (infancy or at puberty)
- Xanthomas (adolescents to early adulthood)
Dementiawith slow deterioration in intellectual abilities (early adulthood) Spasticity(early adulthood)
- Cerebellar signs such as intention tremor, difficulty with fast hand movements,
nystagmus, truncal ataxia, and rhomberg's sign) (early adulthood)
- Behavioral changes (early adulthood)
- Hallucinations (early adulthood)
- Agitation (early adulthood)
- Aggression (early adulthood)
- Depression (early adulthood)
- Suicide attempt (early adulthood)
Other symptoms may include
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|
|Abnormality of vision||
Abnormality of sight
[ more ]
Clouding of the lens of the eye
[ more ]
Mental retardation, nonspecific
[ more ]
Fatty deposits in skin around the eyes
Fatty deposits on eyelids
[ more ]
|30%-79% of people have these symptoms|
|Abnormal pyramidal sign||0007256|
|Abnormality of extrapyramidal motor function||0002071|
|Abnormality of the periventricular white matter||0002518|
Narrowing and hardening of arteries
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
[ more ]
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ]
|Neurological speech impairment||
[ more ]
Involuntary muscle stiffness, contraction, or spasm
|5%-29% of people have these symptoms|
Abnormal deposits of calcium in the brain
Slowed or blocked flow of bile from liver
Recurrent joint dislocations
[ more ]
[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormal circulating cholesterol concentration||
Abnormality of cholesterol metabolism
|Abnormality of central somatosensory evoked potentials||0100291|
|Abnormality of the dentate
Degeneration of cerebellum
Degeneration of cerebrum
[ more ]
|EEG with generalized slow activity||0010845|
|EMG: axonal abnormality||0003482|
|Optic disc pallor||0000543|
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other causes of xanthomata such as sitosterolemia and hyperlipemia (especially type IIa, also known as familial hypercholesterolemia [see these terms]), and for infants presenting with cholestasis, all other causes of neonatal cholestasis.
Visit the Orphanet disease page for more information.
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.
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.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Cerebrotendinous xanthomatosis. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cerebrotendinous xanthomatosis. Click on the link to view a sample search on this topic.
- Federico A, Dotti MT, Gallus GN. Cerebrotendinous Xanthomatosis. GeneReviews. 2016; https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ctx.
- Cerebrotendinous Xanthomatosis. Genetics Home Reference. 2016; https://ghr.nlm.nih.gov/condition/cerebrotendinous-xanthomatosis.