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The molecular basis of adrenocorticotrophin resistance syndrome.
[triple a syndrome]
Adrenocorticotrophin
resistance
syndromes
comprise
familial
glucocorticoid
deficiency
(
FGD
)
and
triple
A
syndrome
,
which
are
rare
autosomal
recessive
diseases
with
distinct
clinical
features
and
molecular
etiologies
.
Mutations
of
melanocortin-
2
receptor
(
MC
2
R
)
have
been
described
in
segregation
with
FGD
in
25
%
of
patients
.
More
recently
melanocortin-
2
receptor
accessory
protein
(
MRAP
)
,
a
small
single
-transmembrane
domain
protein
,
was
described
as
an
essential
protein
for
the
traffic
of
MC
2
R
and
its
expression
on
the
plasma
membrane
.
About
20
%
of
FGD
patients
carry
homozygous
mutations
of
MRAP
.
The
ALADIN
protein
(
for
alacrima
/
achalasia
/
adrenal
insufficiency
/
neurologic
disorder
)
was
identified
as
the
molecular
basis
of
triple
A
syndrome
.
The
elucidation
of
the
genetic
basis
of
the
ACTH
resistance
syndrome
has
contributed
to
the
better
understanding
of
MC
2
R
function
.
However
,
in
some
patients
the
molecular
etiology
is
not
yet
known
and
awaits
further
genetic
studies
.
Diseases
Validation
Diseases presenting
"molecular etiologies"
symptom
triple a syndrome
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