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".
This graph shows the total number of publications written about "Xanthomatosis, Cerebrotendinous" by people in this website by year, and whether "Xanthomatosis, Cerebrotendinous" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Xanthomatosis, Cerebrotendinous" by people in Profiles.
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Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis. J AAPOS. 2023 08; 27(4):208-211.
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Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. Mol Genet Metab. 2015 Dec; 116(4):298-304.
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Genetics of familial hypercholesterolemia. Curr Atheroscler Rep. 2015 Apr; 17(4):491.
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Presenile cataract: consider cholestanol. Arch Ophthalmol. 2006 Oct; 124(10):1490-2.