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Pituitary gland development: an update.
[kallmann syndrome]
The
embryonic
development
of
the
pituitary
gland
involves
a
complex
and
highly
spatio-temporally
regulated
network
of
integrating
signalling
molecules
and
transcription
factors
.
Genetic
mutations
in
any
of
these
factors
can
lead
to
congenital
hypopituitarism
in
association
with
a
wide
spectrum
of
craniofacial
/
midline
defects
ranging
from
incompatibility
with
life
to
holoprosencephaly
(
HPE
)
and
cleft
palate
and
septo-
optic
dysplasia
(
SOD
)
.
Increasing
evidence
supports
a
genotypic
overlap
with
hypogonadotrophic
hypogonadal
disorders
such
as
Kallmann
syndrome
,
which
is
consistent
with
the
known
overlap
in
phenotypes
between
these
disorders
.
This
chapter
reviews
the
cascade
of
events
leading
up
to
the
successful
development
of
the
pituitary
gland
and
to
highlight
key
areas
where
genetic
variations
can
occur
thus
leading
to
congenital
hypopituitarism
and
associated
defects
.
Diseases
Validation
Diseases presenting
"wide spectrum"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
canavan disease
classical phenylketonuria
focal myositis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
primary hyperoxaluria type 1
proteus syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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