Search on:
VAN BOGAERT-SCHERER-EPSTEIN DISEASE
Descriptors Found:
1
Displaying:
1 .. 1
1 / 1
DeCS
Descriptor
English
:
Xanthomatosis, Cerebrotendinous
Descriptor
Spanish
:
Xantomatosis Cerebrotendinosa
Descriptor
Portuguese
:
Xantomatose Cerebrotendinosa
Synonyms
English
:
Van Bogaert-Scherer-Epstein Disease
Tree Number:
C16.320.565.398.925
C18.452.584.750.975
C18.452.648.398.925
Definition
English
:
An autosomal recessive lipid storage disorder due to
mutation
of the gene CYP27A1 encoding sterol 27-hydroxylase. 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
:
blood
cerebrospinal fluid
chemically induced
classification
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
urine
ultrasonography
veterinary
virology
Record Number:
32957
Unique Identifier:
D019294
Occurrence in VHL
:
Similar:
DeCS
SciELO
LILACS
LIS