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OCULOCEREBRORENAL SYNDROME
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DeCS
Descriptor
English
:
Oculocerebrorenal Syndrome
Descriptor
Spanish
:
Síndrome Oculocerebrorrenal
Descriptor
Portuguese
:
Síndrome Oculocerebrorrenal
Synonyms
English
:
Lowe Syndrome
Cerebrooculorenal Syndrome
Tree Number:
C10.228.140.163.100.640
C12.777.419.815.720
C13.351.968.419.815.720
C16.131.077.661
C16.320.322.750
C16.320.565.151.600
C16.320.565.189.640
C16.320.565.861.750
C18.452.132.100.640
C18.452.648.151.600
C18.452.648.189.640
C18.452.648.861.750
Definition
English
:
A sex-linked recessive disorder affecting multiple systems including the
EYE
, the
NERVOUS SYSTEM
, and the
KIDNEY
. Clinical features include congenital
CATARACT
; MENTAL RETARDATION; and renal tubular dysfunction (
FANCONI SYNDROME
; RENAL TUBULAR
ACIDOSIS
; X-LINKED
HYPOPHOSPHATEMIA
or vitamin-D-resistant
rickets
) and
SCOLIOSIS
. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL
metabolism
and
INOSITOL
signaling pathway. (from Menkes, Textbook of
Child
Neurology
, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
History Note
English
:
1991(1977)
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:
9986
Unique Identifier:
D009800
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS