Related MeSH Hierarchy (4)
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Lipid Metabolism, Inborn Errors » Xanthomatosis, Cerebrotendinous
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors » Xanthomatosis, Cerebrotendinous
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Xanthomatosis » Xanthomatosis, Cerebrotendinous
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors » Xanthomatosis, Cerebrotendinous
Description
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. MeSH
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Phase 2 Indicated Drugs (2)
Organization Involved with Phase 2 Indications (2)
Organization Involved with Other Experimental Indications (1)
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