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Two cases of Allgrove syndrome with mutations in the AAAS gene.
[triple a syndrome]
Allgrove
syndrome
is
a
rare
autosomal
recessive
disorder
characterized
by
the
triad
of
adrenal
insufficiency
,
achalasia
and
alacrima
.
This
syndrome
,
also
known
as
triple
A
syndrome
,
is
now
known
to
be
caused
by
mutations
in
the
AAAS
gene
.
In
the
present
study
,
we
report
two
new
patients
of
Allgrove
syndrome
with
mutations
in
the
AAAS
gene
.
Patient
1
was
a
22
-
year
-old
Japanese
woman
,
born
to
consanguineous
parents
.
She
was
confirmed
to
have
adrenal
insufficiency
at
the
age
of
3
years
and
6
months
.
She
developed
alacrima
and
bilateral
optic
nerve
atrophy
at
the
age
of
8
years
.
She
had
been
noticed
to
have
dysphagia
.
Based
on
these
findings
,
she
was
diagnosed
as
having
Allgrove
syndrome
.
Mutation
analysis
revealed
a
novel
homozygous
point
mutation
in
exon
7
of
her
AAAS
gene
,
changing
codon
194
encoding
Arg
(
CGA
)
to
a
stop
codon
(
TGA
)
(
R
194
X
)
.
Patient
2
was
a
7
-
year
-old
Japanese
boy
,
born
to
consanguineous
parents
.
At
the
age
of
1
year
,
he
was
noticed
to
be
unable
to
produce
tears
.
He
was
confirmed
to
have
adrenal
insufficiency
,
mental
retardation
and
spastic
diplegia
at
the
age
of
5
years
and
4
months
.
He
was
tentatively
diagnosed
as
having
Allgrove
syndrome
,
although
he
has
never
complained
of
dysphasia
.
Mutation
analysis
revealed
a
homozygous
point
mutation
in
exon
4
of
his
AAAS
gene
,
changing
codon
119
encoding
Arg
(
CGA
)
to
a
stop
codon
(
TGA
)
(
R
119
X
)
.
Both
of
the
R
119
X
and
R
194
X
mutations
are
predicted
to
result
in
truncated
and
non-functioning
ALADIN
proteins
,
and
thus
the
diagnosis
of
Allgrove
syndrome
was
confirmed
by
the
mutation
analyses
.
These
findings
indicate
that
there
exist
significant
clinical
variability
and
mutational
heterogeneities
in
Japanese
patients
with
this
syndrome
.
Diseases
Validation
Diseases presenting
"dysphagia"
symptom
alexander disease
cadasil
cushing syndrome
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
inclusion body myositis
kindler syndrome
liposarcoma
locked-in syndrome
neuralgic amyotrophy
oligodontia
triple a syndrome
well-differentiated liposarcoma
This symptom has already been validated