MeSH Browser

MeSH Heading: Xanthomatosis, Cerebrotendinous
Tree Number(s): C16.320.565.398.925; C18.452.584.563.925; C18.452.584.750.975; C18.452.648.398.925
Unique ID: D019294
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D019294
Scope Note: 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.
Entry Term(s): Cerebral Cholesterinosis; Cerebrotendinous Xanthomatosis; Van Bogaert-Scherer-Epstein Disease
Previous Indexing: Xanthomatosis (1968-1996)
Public MeSH Note: 97
History Note: 97
Date Established: 1997/01/01
Date of Entry: 1996/06/10
Revision Date: 2021/06/30

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0028726
Scope Note: 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.
Terms: Xanthomatosis, Cerebrotendinous Preferred Term
Term UI T057480
Date01/01/1999
LexicalTag NON
ThesaurusID; Van Bogaert-Scherer-Epstein Disease
Term UI T057481
Date12/06/1995
LexicalTag EPO
ThesaurusID; Cerebrotendinous Xanthomatosis
Term UI T645929
Date07/15/2005
LexicalTag NON
ThesaurusID; Cerebral Cholesterinosis
Term UI T769514
Date04/15/2010
LexicalTag NON
ThesaurusID

Xanthomatosis, Cerebrotendinous MeSH Descriptor Data 2025