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DENT'S DISEASE
Descriptors Found:
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DeCS
Descriptor
English
:
Dent Disease
Descriptor
Spanish
:
Enfermedad de Dent
Descriptor
Portuguese
:
Doença de Dent
Synonyms
English
:
Dent's Disease
Tree Number:
C12.777.419.815.364
C13.351.968.419.815.364
C16.320.322.100
C16.320.565.861.271
C18.452.648.861.271
Definition
English
:
X-linked recessive
NEPHROLITHIASIS
characterized by
HYPERCALCIURIA
;
HYPOPHOSPHATEMIA
;
NEPHROCALCINOSIS
; and
PROTEINURIA
. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (
Dent Disease
I). Another group of mutations associated with this
disease
is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.
See Related
English
:
Bartter Syndrome
Fanconi Syndrome
Gitelman Syndrome
Oculocerebrorenal Syndrome
History Note
English
:
2011
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:
53983
Unique Identifier:
D057973
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS