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Disease Xanthomatosis, Cerebrotendinous

Name Xanthomatosis, Cerebrotendinous
Synonyms Bogaert-Scherer-Epstein Disease, Van | Cerebral Cholesterinoses | Cerebral Cholesterinosis | Cerebrotendinous Xanthomatoses | Cerebrotendinous Xanthomatosis | CTX | Disease, Van Bogaert-Scherer-Epstein | Van Bogaert Scherer Epstein Disease | Van Bogaert-Scherer-Epstein Disease | Xanthomatoses, Cerebrotendinous
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D019294
OMIM® ID 213700
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Xanthomatosis, Cerebrotendinous Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Xanthomatosis Has associated chemicals Has associated genes Xanthomatosis, Cerebrotendinous Has associated chemicals Has associated genes
3. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Xanthomatosis, Cerebrotendinous Has associated chemicals Has associated genes

Top ↑ Descendants

None.