Rare Diseases Symptoms Automatic Extraction
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LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects.
[aniridia]
AGR
syndrome
(
the
clinical
triad
of
aniridia
,
genitourinary
anomalies
,
and
mental
retardation
,
a
subgroup
of
WAGR
syndrome
for
Wilm
's
tumor
,
aniridia
,
genitourinary
anomalies
,
and
mental
retardation
)
is
a
rare
syndrome
caused
by
a
contiguous
gene
deletion
in
the
11
p
13
-
14
region
.
However
,
the
mechanisms
of
WAGR
syndrome
pathogenesis
are
elusive
.
In
this
study
we
provide
evidence
that
LGR
4
(
also
named
GPR
4
8
)
,
the
only
G-
protein-coupled
receptor
gene
in
the
human
chromosome
11
p
12
-
11
p
14
.
4
fragment
,
is
the
key
gene
responsible
for
the
diseases
of
AGR
syndrome
.
Deletion
of
Lgr
4
in
mouse
led
to
aniridia
,
polycystic
kidney
disease
,
genitourinary
anomalies
,
and
mental
retardation
,
similar
to
the
pathological
defects
of
AGR
syndrome
.
Furthermore
,
Lgr
4
inactivation
significantly
increased
cell
apoptosis
and
decreased
the
expression
of
multiple
important
genes
involved
in
the
development
of
WAGR
syndrome
related
organs
.
Specifically
,
deletion
of
Lgr
4
down-regulated
the
expression
of
histone
demethylases
Jmjd
2
a
and
Fbxl
10
through
cAMP-CREB
signaling
pathways
both
in
mouse
embryonic
fibroblast
cells
and
in
urinary
and
reproductive
system
mouse
tissues
.
Our
data
suggest
that
Lgr
4
,
which
regulates
eye
,
kidney
,
testis
,
ovary
,
and
uterine
organ
development
as
well
as
mental
development
through
genetic
and
epigenetic
surveillance
,
is
a
novel
candidate
gene
for
the
pathogenesis
of
AGR
syndrome
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated