Because of a lapse in government funding, the information on this
website may not be up to date, transactions submitted via the
website may not be processed, and the agency may not be able to
respond to inquiries until appropriations are enacted. The NIH
Clinical Center (the research hospital of NIH) is open. For more
details about its operating status, please visit
cc.nih.gov. Updates
regarding government operating status and resumption of normal
operations can be found at
opm.gov.
Xanthomatosis, Cerebrotendinous MeSH Descriptor Data 2025
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.
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.