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A random Abstract
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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
"failure to thrive"
symptom
22q11.2 deletion syndrome
alexander disease
child syndrome
congenital diaphragmatic hernia
cystinuria
familial hypocalciuric hypercalcemia
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated