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New insights into the molecular basis of the triple A syndrome.
[triple a syndrome]
The
triple
A
syndrome
(
MIM
*
231550
)
is
a
rare
autosomal
recessive
disorder
characterized
by
adrenocorticotropic
hormone
(
ACTH
)
resistant
adrenal
failure
,
achalasia
,
alacrima
and
a
variety
of
neurological
and
dermatological
features
.
Adrenal
insufficiency
usually
presents
in
the
first
decade
of
life
,
however
in
some
patients
it
may
occur
later
in
life
or
may
even
lack
completely
.
Recently
,
we
and
others
identified
a
novel
gene
on
chromosome
12
q
13
,
designated
AAAS
(
Achalasia
-
Addisonianism-
Alacrima
-
Syndrome
gene
)
which
is
mutated
in
patients
with
triple
A
syndrome
.
We
investigated
n
=
84
families
including
111
patients
with
clinically
suggested
triple
A
syndrome
and
identified
homozygous
or
compound
heterozygous
AAAS
mutations
in
78
families
.
Genotype
/
phenotype
analyses
revealed
a
highly
variable
occurrence
,
age
of
onset
and
severity
of
all
clinical
symptoms
between
patients
with
the
same
AAAS
mutation
.
The
obvious
lack
of
a
genotype
/
phenotype
relationship
is
suggestive
of
modifying
genes
/
factors
which
need
to
be
determined
.
The
AAAS
protein
function
is
unknown
.
With
four
WD
repeats
it
belongs
to
the
family
of
WD
repeat-containing
proteins
which
may
exhibit
a
high
degree
of
functional
diversity
.
The
subcellular
localization
of
the
protein
and
the
determination
of
its
putative
binding
partners
will
shed
light
on
the
role
of
the
AAAS
protein
for
the
development
and
function
of
the
adrenal
gland
and
other
neuroendocrine
structures
.