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Genetic aspects of hypothalamic and pituitary gland development.
[kallmann syndrome]
Hypothalamo-
pituitary
development
during
embryogenesis
is
a
highly
complex
process
involving
the
interaction
of
a
network
of
spatiotemporally
regulated
signaling
molecules
and
transcription
factors
.
Mutations
in
any
of
the
genes
encoding
these
components
can
lead
to
congenital
hypopituitarism
,
which
is
often
associated
with
a
wide
spectrum
of
defects
affecting
craniofacial
/
midline
development
.
In
turn
,
these
defects
can
be
incompatible
with
life
,
or
lead
to
disorders
encompassing
holoprosencephaly
(
HPE
)
and
cleft
palate
,
and
septo-
optic
dysplasia
(
SOD
)
.
In
recent
years
,
there
has
been
increasing
evidence
of
an
overlapping
genotype
between
this
spectrum
of
disorders
and
Kallmann
syndrome
(
KS
)
,
defined
as
the
association
of
hypogonadotropic
hypogonadism
(
HH
)
and
anosmia
.
This
is
consistent
with
the
known
phenotypic
overlap
between
these
disorders
and
opens
a
new
avenue
of
identifying
novel
genetic
causes
of
the
hypopituitarism
spectrum
.
This
chapter
reviews
the
genetic
and
molecular
events
leading
to
the
successful
development
of
the
hypothalamo-
pituitary
axis
during
embryogenesis
,
and
focuses
on
genes
in
which
variations
/
mutations
occur
,
leading
to
congenital
hypopituitarism
and
associated
defects
.
Diseases
Validation
Diseases presenting
"cleft palate"
symptom
22q11.2 deletion syndrome
aniridia
congenital diaphragmatic hernia
cystinuria
hirschsprung disease
kabuki syndrome
kallmann syndrome
monosomy 21
neuralgic amyotrophy
oligodontia
phenylketonuria
This symptom has already been validated