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XANTHOMATOSIS, CEREBROTENDINOUS
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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 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
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
32957
Unique Identifier:
D019294
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS