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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
"tears"
symptom
triple a syndrome
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