Xanthomatosis, Cerebrotendinous
"Xanthomatosis, Cerebrotendinous" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.
| Descriptor ID |
D019294
|
| MeSH Number(s) |
C16.320.565.398.925 C18.452.584.750.975 C18.452.648.398.925
|
| Concept/Terms |
Xanthomatosis, Cerebrotendinous- Xanthomatosis, Cerebrotendinous
- Cerebrotendinous Xanthomatoses
- Xanthomatoses, Cerebrotendinous
- Cerebrotendinous Xanthomatosis
- Van Bogaert-Scherer-Epstein Disease
- Bogaert-Scherer-Epstein Disease, Van
- Disease, Van Bogaert-Scherer-Epstein
- Van Bogaert Scherer Epstein Disease
- Cerebral Cholesterinosis
- Cerebral Cholesterinoses
|
Below are MeSH descriptors whose meaning is more general than "Xanthomatosis, Cerebrotendinous".
- Diseases [C]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Xanthomatosis, Cerebrotendinous [C16.320.565.398.925]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Lipid Metabolism Disorders [C18.452.584]
- Xanthomatosis [C18.452.584.750]
- Xanthomatosis, Cerebrotendinous [C18.452.584.750.975]
- Metabolism, Inborn Errors [C18.452.648]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Xanthomatosis, Cerebrotendinous [C18.452.648.398.925]
Below are MeSH descriptors whose meaning is more specific than "Xanthomatosis, Cerebrotendinous".
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Below are the most recent publications written about "Xanthomatosis, Cerebrotendinous" by people in Profiles.