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Triple A syndrome: 32 years experience of a single centre (1977-2008).
[triple a syndrome]
Triple
A
syndrome
is
an
autosomal
recessive
disorder
characterized
by
alacrima
,
achalasia
,
ACTH-resistant
adrenal
insufficiency
,
autonomic
dysfunction
,
and
neurodegeneration
.
Mutations
in
the
AAAS
gene
on
chromosome
12
q
13
encoding
the
nuclear
pore
protein
ALADIN
have
been
reported
in
these
patients
.
Over
the
period
1977
-
2008
we
evaluated
ten
subjects
with
the
clinical
diagnosis
of
triple
A
syndrome
.
Molecular
analysis
was
performed
in
seven
patients
and
revealed
that
all
except
one
are
compound
heterozygotes
for
two
mutations
in
the
AAAS
gene
.
Two
novel
mutations
were
detected
:
c
.
123
+
2
T
>
C
resulted
in
splice
defect
while
c
.
1261
_
1262
insG
mutation
resulted
in
a
truncated
protein
(
p
.
V
421
fs
)
,
which
most
probably
is
not
functional
.
Genotype-phenotype
correlation
could
not
be
established
.
In
all
our
patients
,
except
one
sibling
of
previously
diagnosed
brother
and
sister
,
genetic
analysis
was
performed
when
at
least
two
symptoms
were
present
,
usually
alacrima
and
achalasia
.
Based
on
our
experience
,
we
recommend
that
in
case
of
the
presence
of
alacrima
and
at
least
one
more
symptom
of
triple
A
syndrome
,
adrenal
function
testing
and
molecular
analysis
should
be
performed
.
In
all
children
with
mutation
in
AAAS
gene
,
regular
follow
up
of
adrenal
function
is
necessary
to
avoid
adrenal
crisis
and
start
substitution
therapy
as
soon
as
adrenal
insufficiency
is
noted
.
Diseases
Validation
Diseases presenting
"neurodegeneration"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated