 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
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| MeSH Number(s) |
C16.320.565.398.925 C18.452.584.750.975 C18.452.648.398.925
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| 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
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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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2023 | 2 | 0 | 2 |
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Below are the most recent publications written about "Xanthomatosis, Cerebrotendinous" by people in Profiles.
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Steiner RD, DeBarber A, Larson A, Blanchard B, Laurie S, Odedara N, Rosengrant H, Dutta R. Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives. Adv Ther. 2024 02; 41(2):467-475.
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Freedman SF, Del Monte MA, Diva U, Donahue SP, Drack AV, Dutta R, Fung SSM, Imperiale M, Jordan CO, Lenhart PD, Lim ME, McCourt EA, Nihalani BR, Sabahi T, Stahl ED, Miraldi Utz VA, Wilson ME, Yen KG, VanderVeen DK. 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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