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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
"large number"
symptom
acute rheumatic fever
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
canavan disease
coats disease
cowden syndrome
dedifferentiated liposarcoma
dracunculiasis
epidermolysis bullosa simplex
fabry disease
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
kindler syndrome
legionellosis
malignant atrophic papulosis
neuralgic amyotrophy
phenylketonuria
pleomorphic liposarcoma
primary effusion lymphoma
scrub typhus
severe combined immunodeficiency
triple a syndrome
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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