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Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene.
[triple a syndrome]
Allgrove
syndrome
(
or
triple-
A
syndrome
)
is
a
rare
autosomal
recessive
disorder
characterized
by
alacrima
,
achalasia
,
adrenal
insufficiency
(
glucocorticoid
in
the
majority
of
cases
)
and
autonomic
/
neurological
abnormalities
.
This
disease
is
now
known
to
be
caused
by
mutation
in
the
AAAS
gene
located
on
chromosome
12
q
13
.
Diagnosis
should
be
readily
available
when
the
full-blown
features
are
there
,
but
it
becomes
less
apparent
when
presentation
is
atypical
or
in
the
evolving
process
.
We
present
a
brother
and
sister
(
12
and
19
y
old
,
respectively
)
born
to
consanguineous
parents
of
Palestinian
origin
with
Allgrove
syndrome
.
The
index
patient
was
erroneously
diagnosed
to
be
a
case
of
familial
dysautonomia
before
the
diagnosis
of
adrenal
insufficiency
was
made
at
the
age
of
7
.
5
y
,
while
his
elder
sister
had
only
alacrima
from
birth
and
developed
achalasia
at
the
age
of
15
y
.
She
started
to
develop
early
evidence
of
adrenal
disease
at
the
age
of
19
y
.
Both
of
them
had
neuroautonomic
dysfunction
.
The
diagnosis
of
Allgrove
syndrome
was
confirmed
in
these
two
patients
by
studying
the
gene
mutation
in
the
family
.
The
sequencing
of
the
AAAS
gene
in
the
two
patients
identified
a
novel
homozygous
mutation
within
intron
5
(
IVS
5
+
1
G--
>
A
)
.
Both
parents
as
well
as
all
three
other
children
were
heterozygous
for
the
same
mutation
.
These
two
cases
illustrate
the
heterogenous
nature
and
the
intrafamilial
phenotypic
variability
of
Allgrove
syndrome
.
Diseases
Validation
Diseases presenting
"adrenal insufficiency"
symptom
adrenal incidentaloma
adrenomyeloneuropathy
aromatase deficiency
congenital adrenal hyperplasia
cushing syndrome
familial hypocalciuric hypercalcemia
neonatal adrenoleukodystrophy
scrub typhus
triple a syndrome
von hippel-lindau disease
x-linked adrenoleukodystrophy
This symptom has already been validated