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Renal Agenesis in Kallmann Syndrome: A Network Approach.
[kallmann syndrome]
Kallmann
syndrome
(
KS
)
is
defined
by
the
combination
of
isolated
hypogonadotrophic
hypogonadism
(
IHH
)
and
anosmia
,
with
renal
agenesis
occurring
in
30
%
of
KS
cases
with
KAL
1
gene
mutations
.
Unlike
other
KS
-related
disorders
,
renal
agenesis
can
not
be
directly
associated
with
mutations
in
the
KAL
1
gene
.
We
hypothesized
that
protein
interaction
networks
may
suggest
a
link
between
genes
currently
known
to
be
associated
with
KS
on
the
one
hand
and
those
associated
with
renal
agenesis
on
the
other
hand
.
We
created
a
STRING
protein
interaction
network
from
KS
-related
genes
and
renal
-
agenesis
-associated
genes
and
analyzed
it
with
Cytoscape
3
.
0
.
1
network
software
.
The
STRING
protein
interaction
network
provided
a
conceptual
framework
for
current
knowledge
on
the
subject
of
renal
morphogenesis
in
Kallmann
syndrome
.
In
addition
,
STRING
and
Cytoscape
3
.
0
.
1
software
identified
new
potential
KS
renal
-
aplasia
-associated
genes
(
PAX
2
,
BMP
4
,
and
SOX
10
)
.
The
use
of
protein-protein
interaction
networks
and
network
analysis
tools
provided
interesting
insights
and
possible
directions
for
future
studies
on
the
subject
of
renal
aplasia
in
Kallmann
syndrome
.
Diseases
Validation
Diseases presenting
"those associated with renal agenesis on the other hand"
symptom
kallmann syndrome
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