Concept information
Nutritional and Metabolic Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Terme préférentiel
Xanthomatosis, Cerebrotendinous
Type
-
mesh:Descriptor
Définition
- 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.
Concept générique
Synonyme(s)
- Cerebral Cholesterinosis
- Cerebrotendinous Xanthomatosis
- Van Bogaert-Scherer-Epstein Disease
Qualificatif(s) autorisé(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
Traductions
-
français
-
Forme cérébrale de la cholestérinose
-
Maladie de van Bogaert-Scherer-Epstein
-
Xanthomatose cérébro-tendineuse
URI
http://data.loterre.fr/ark:/67375/JVR-VP5FPVK5-H
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