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Cerebrotendineous xanthomatosis

Cerebrotendineous xanthomatosis
Classification & external resources
ICD-10 E75.5
ICD-9 272.7
OMIM 213700
DiseasesDB 29239
MeSH D019294

Cerebrotendineous xanthomatosis (or cerebrotendinous xanthomatosis, with one fewer 'e', or Van Bogaert-Scherer-Epstein syndrome, or cerebrotendinous cholesterosis) is a form of xanthomatosis associated with the CYP27A1 gene on chromosome 2.

An inherited disorder associated with the deposition of a form of cholesterol in the brain and other tissues and with elevated levels of cholesterol in plasma but with normal total cholesterol level; it is characterized by progressive cerebellar ataxia beginning after puberty and by juvenile cataracts, and tendineous or tuberous xanthomas.

This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Cerebrotendineous_xanthomatosis". A list of authors is available in Wikipedia.
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