Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"mental retardation and spastic diplegia at the age of 5 years and 4 months"
symptom
triple a syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom