Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome.
[triple a syndrome]
The
triple
A
syndrome
is
characterized
by
the
main
features
adrenal
insufficiency
,
achalasia
and
alacrima
.
Other
organ
systems
can
be
involved
in
a
variable
manner
.
We
report
clinical
and
novel
molecular
findings
in
a
6
.
8
-
year
-old
Kurdish
boy
,
who
presented
with
relapsing
vomiting
and
failure
to
thrive
.
He
was
diagnosed
as
having
achalasia
and
primary
adrenocortical
hypofunction
.
History
and
clinical
examination
showed
that
the
boy
was
unable
to
produce
tears
.
In
addition
,
a
large
number
of
associated
neurological
and
dermatological
features
was
present
in
this
patient
.
Thus
,
the
clinical
diagnosis
of
triple
A
syndrome
was
made
.
Initial
molecular
marker
analysis
supported
linkage
to
the
triple
A
critical
region
on
chromosome
12
q
13
.
Further
,
a
homozygous
G
-
-
>
A
transition
in
exon
9
of
the
newly
identified
AAAS
gene
,
resulting
in
a
stop
codon
(
W
295
X
)
and
predicting
a
truncated
protein
with
loss
of
function
,
confirmed
the
diagnosis
.
This
new
mutation
was
also
detected
in
another
family
of
Kurdish
origin
.
In
turned
out
that
both
families
were
related
.
Diseases
Validation
Diseases presenting
"vomiting"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
congenital toxoplasmosis
cutaneous mastocytosis
dedifferentiated liposarcoma
esophageal squamous cell carcinoma
homocystinuria without methylmalonic aciduria
kallmann syndrome
locked-in syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
primary hyperoxaluria type 1
proteus syndrome
scrub typhus
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
typhoid
von hippel-lindau disease
This symptom has already been validated