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Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus.
[triple a syndrome]
Evidence
indicates
that
patients
with
familial
achalasia
associated
with
Allgrove
or
triple-
A
syndrome
(
i
.
e
.
alacrima
,
achalasia
and
adrenocorticotropin-resistant
adrenal
insufficiency
with
neurological
impairment
)
have
mutations
of
the
alacrima
achalasia
adrenal
insufficiency
syndrome
(
AAAS
)
gene
.
The
present
study
was
aimed
at
identifying
possible
AAAS
gene
mutations
in
patients
with
established
idiopathic
non-familial
achalasia
.
Genomic
DNA
of
41
patients
was
isolated
from
peripheral
blood
cells
using
standard
methods
.
The
16
exons
of
the
AAAS
gene
(
or
ALADIN
)
were
screened
for
mutations
using
the
denaturing
high
-performance
liquid
chromatography
method
.
Four
heterozygous
nucleotidic
variations
have
been
identified
in
patients
with
idiopathic
achalasia
,
among
which
three
were
exonic
conservative
polymorphisms
[
i
.
e
.
D
138
D
(
GAT--
>
GAC
)
,
L
227
L
(
TTG--
>
CTG
)
and
F
2
85
F
(
TTC--
>
TTT
)
in
exons
5
,
7
and
9
,
respectively
]
.
The
fourth
nucleotidic
variation
was
located
in
intron
13
(
IVS
14
-
23
delT
)
.
All
variants
have
been
regarded
as
polymorphisms
resulting
in
a
normal
ALADIN
protein
since
they
are
either
conservative
or
lying
outside
the
consensus
splice
sites
.
Our
data
do
not
support
a
pathogenetic
role
for
common
AAAS
gene
mutations
in
patients
with
idiopathic
achalasia
as
seen
in
Allgrove
syndrome
.
These
findings
suggest
the
participation
of
different
mechanisms
in
the
pathogenesis
of
idiopathic
achalasia
.
Diseases
Validation
Diseases presenting
"high-performance liquid chromatography method"
symptom
phenylketonuria
triple a syndrome
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