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A novel DNA sequence variation in the first genetically confirmed allgrove syndrome in iran.
[triple a syndrome]
Allgrove
syndrome
or
triple-
A
syndrome
is
an
autosomal
recessive
disorder
characterized
by
adrenal
insufficiency
,
achalasia
and
alacrima
.
Affected
patients
may
also
present
with
a
constellation
of
central
and
peripheral
nervous
system
manifestations
.
The
gene
for
Allgrove
syndrome
(
ALADIN
)
is
located
on
chromosome
12
q
13
.
Here
we
report
a
23
-
year
-old
man
with
alacrimia
,
achalasia
,
optic
atrophy
and
progressive
amyotrophic
lateral
sclerosis
-like
presentations
.
Sequencing
of
ALADIN
gene
showed
a
novel
6
-
bp
sequence
variant
that
the
patient
was
homozygous
and
his
father
was
heterozygous
for
the
defect
.
A
probable
mechanism
of
action
of
this
newly
diagnosed
missense
mutation
would
be
to
cause
abnormal
splicing
of
the
ALADIN
gene
.
Diseases
Validation
Diseases presenting
"optic atrophy and progressive amyotrophic lateral sclerosis-like presentations"
symptom
triple a syndrome
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