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. Generated by gene2mesh v. 1.1.1
LABEL:
Xanthomatosis, Cerebrotendinous
SCORE TYPE:
Binary
DATE ADDED:
DATE UPDATED:
SPECIES:
| Uploaded As | Gene Symbol | Homology | Score | Priority | LinkOuts | Emphasis |
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GeneWeaver