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CYSTINOSIS
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DeCS
Descriptor
English
:
Cystinosis
Descriptor
Spanish
:
Cistinosis
Descriptor
Portuguese
:
Cistinose
Tree Number:
C16.320.565.595.377
C18.452.648.595.377
Definition
English
:
A metabolic
disease
characterized by the defective transport of
CYSTINE
across the lysosomal membrane due to
mutation
of a membrane protein cystinosin. This results in
cystine
accumulation and
crystallization
in the cells causing widespread tissue damage. In the
KIDNEY
, nephropathic
cystinosis
is a common cause of RENAL
FANCONI SYNDROME.
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:
3572
Unique Identifier:
D003554
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS