Xanthomatosis, Cerebrotendinous D019294

Related MeSH Hierarchy (4)

Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Xanthomatosis » 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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