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Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene.
[triple a syndrome]
Triple
A
syndrome
is
a
rare
autosomal
recessive
disease
characterized
by
achalasia
,
alacrima
,
adrenocorticotrophic
hormone
resistant
adrenal
failure
and
some
neurologic
abnormalities
.
We
report
a
nine
year
old
patient
with
alacrima
,
optic
atrophy
and
achalasia
with
mutation
in
the
AAAS
gene
.
PCR
amplification
of
the
complete
coding
sequence
as
well
as
the
exon-intron
junctions
of
AAAS
gene
was
performed
in
DNA
from
the
patient
and
his
parents
.
A
AAS
gene
analysis
demonstrated
a
homozygous
A
to
G
mutation
at
nucleotide
position
122
in
exon
1
in
DNA
from
the
patient
.
The
novel
mutation
described
confirms
the
diagnosis
.
Diseases
Validation
Diseases presenting
"resistant adrenal failure"
symptom
triple a syndrome
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