Descriptors Found: 1
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Descriptor English:   Xanthomatosis, Cerebrotendinous 
Descriptor Spanish:   Xantomatosis Cerebrotendinosa 
Descriptor Portuguese:   Xantomatose Cerebrotendinosa 
Synonyms English:   Bogaert-Scherer-Epstein Disease, Van
Cerebral Cholesterinoses
Cerebral Cholesterinosis
Cerebrotendinous Xanthomatoses
Cerebrotendinous Xanthomatosis
Disease, Van Bogaert-Scherer-Epstein
Van Bogaert Scherer Epstein Disease
Van Bogaert-Scherer-Epstein Disease
Xanthomatoses, Cerebrotendinous  
Tree Number:   C16.320.565.398.925
Definition English:   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. 
History Note English:   97 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   32957 
Unique Identifier:   D019294 

Occurrence in VHL: