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Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.
[triple a syndrome]
ACTH
resistance
is
a
feature
of
several
human
syndromes
with
known
genetic
causes
,
including
familial
glucocorticoid
deficiency
(
types
1
and
2
)
and
triple
A
syndrome
.
However
,
many
patients
with
ACTH
resistance
lack
an
identifiable
genetic
aetiology
.
The
human
homolog
of
the
Acd
gene
,
mutated
in
a
mouse
model
of
adrenal
insufficiency
,
was
sequenced
in
25
patients
with
a
clinical
diagnosis
of
familial
glucocorticoid
deficiency
or
triple
A
syndrome
.
A
3
.
4
kilobase
genomic
fragment
containing
the
entire
ACD
gene
was
analysed
for
mutations
in
all
25
patients
.
Samples
were
obtained
by
three
investigators
from
different
institutions
.
The
primary
cohort
consisted
of
25
unrelated
patients
,
primarily
of
European
or
Middle
Eastern
descent
,
with
a
clinical
diagnosis
of
either
familial
glucocorticoid
deficiency
(
FGD
)
or
triple
A
syndrome
.
Patients
lacked
mutations
in
other
genes
known
to
cause
ACTH
resistance
,
including
AAAS
for
patients
diagnosed
with
triple
A
syndrome
and
MC
2
R
and
MRAP
for
patients
diagnosed
with
familial
glucocorticoid
deficiency
.
Thirty
-
five
additional
patients
with
adrenal
disease
phenotypes
were
added
to
form
an
expanded
cohort
of
60
patients
.
Identification
of
DNA
sequence
changes
in
the
ACD
gene
in
the
primary
cohort
and
analysis
of
putative
ACD
haplotypes
in
the
expanded
cohort
.
No
disease-causing
mutations
were
found
,
but
several
novel
single
nucleotide
polymorphisms
(
SNPs
)
and
two
putative
haplotypes
were
identified
.
The
overall
frequency
of
SNPs
in
ACD
is
low
compared
to
other
gene
families
.
No
mutations
were
identified
in
ACD
in
this
collection
of
patients
with
ACTH
resistance
phenotypes
.
However
,
the
newly
identified
SNPs
in
ACD
should
be
more
closely
examined
for
possible
links
to
disease
.
Diseases
Validation
Diseases presenting
"single nucleotide polymorphisms"
symptom
adrenomyeloneuropathy
alpha-thalassemia
benign recurrent intrahepatic cholestasis
congenital adrenal hyperplasia
dentin dysplasia
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
hirschsprung disease
neonatal adrenoleukodystrophy
oculocutaneous albinism
oligodontia
pendred syndrome
primary effusion lymphoma
scrub typhus
triple a syndrome
waldenström macroglobulinemia
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