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Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired.
[aniridia]
We
herein
report
the
case
of
a
woman
with
aniridia
and
with
a
heterozygous
PAX
6
mutation
.
Pax
6
is
a
transcription
factor
involved
in
the
development
of
several
organs
,
including
the
eye
,
pancreas
and
pituitary
.
The
patient
had
been
diagnosed
with
aniridia
in
childhood
and
was
found
to
have
impaired
glucose
tolerance
with
a
heterozygous
PAX
6
mutation
12
years
prior
to
the
current
admission
.
Hormone
stimulating
tests
revealed
a
slightly
impaired
pituitary
function
,
including
subtle
hypogonadotropic
hypogonadism
and
borderline
growth
hormone
(
GH
)
deficiency
.
The
present
case
is
the
first
report
of
a
slightly
impaired
pituitary
function
in
an
aniridia
patient
with
a
heterozygous
PAX
6
mutation
.
Diseases
Validation
Diseases presenting
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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