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The Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients.
[congenital adrenal hyperplasia]
Congenital
adrenal
hyperplasia
(
CAH
)
is
a
group
of
genetic
endocrine
disorders
,
caused
by
enzyme
deficiencies
in
the
conversion
of
cholesterol
to
cortisol
.
More
than
90
%
of
the
cases
have
21
-
hydroxylase
deficiency
(
21
-
OHD
)
.
The
clinical
phenotype
of
the
disease
is
classified
as
classic
,
the
severe
form
,
and
nonclassic
,
the
mild
form
.
In
this
study
,
it
was
planned
to
characterize
the
mutations
that
cause
21
-
OHD
in
Turkish
CAH
patients
by
direct
sequencing
and
multiplex
ligation-dependent
probe
amplification
(
MLPA
)
analysis
and
to
investigate
the
type
of
CAH
(
classic
or
nonclassic
type
)
that
these
mutations
cause
.
A
total
of
124
CAH
patients
with
21
-
OHD
and
100
healthy
volunteers
were
recruited
to
the
study
.
Most
of
the
mutations
were
detected
by
direct
sequencing
.
Large
gene
deletions
/
duplications
/
conversions
were
investigated
with
MLPA
analysis
.
Results
were
evaluated
statistically
.
At
the
end
of
our
study
,
66
different
variations
were
detected
including
SNPs
and
deletions
/
duplications
/
conversions
.
Of
these
variations
,
18
are
novel
,
of
which
three
cause
amino
acid
substitutions
.
In
addition
,
15
SNPs
which
cause
amino
acid
changes
were
identified
among
these
variations
.
If
similar
results
are
obtained
in
different
populations
,
these
mutations
,
in
particular
the
novel
mutation
711
G
>
A
,
may
be
used
as
markers
for
prenatal
diagnosis
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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