Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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The genetics of ACTH resistance syndromes.
[triple a syndrome]
Inherited
adrenocorticotropin
(
ACTH
)
resistance
diseases
are
rare
and
include
triple
A
syndrome
and
familial
glucocorticoid
deficiency
(
FGD
)
.
These
conditions
show
genetic
heterogeneity
,
i
.
e
.
,
the
identical
clinical
phenotype
may
result
from
defects
in
more
than
one
gene
.
Clinically
,
FGD
is
characterized
only
by
ACTH
resistance
,
while
the
triple
A
syndrome
exhibits
a
variety
of
additional
clinical
features
.
FGD
is
caused
by
mutations
in
the
ACTH
receptor
(
melanocortin
2
receptor
,
MC
2
R
)
and
the
recently
identified
melanocortin
2
receptor
accessory
protein
(
MRAP
)
genes
.
In
addition
,
linkage
to
a
locus
on
chromosome
8
has
been
demonstrated
.
The
identification
of
further
genes
in
ACTH
resistance
syndromes
may
reveal
novel
aspects
of
MC
2
R
signalling
and
trafficking
.
This
review
will
summarize
the
clinical
,
biochemical
and
genetic
aspects
of
these
rare
but
informative
diseases
.