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Hereditary hearing loss with thyroid abnormalities.
[pendred syndrome]
Mutations
in
SLC
26
A
4
can
cause
deafness
and
goiter
in
Pendred
syndrome
(
PDS
)
or
isolated
non-syndromic
enlargement
of
the
vestibular
aqueduct
(
NSEVA
)
.
PDS
is
one
of
the
most
common
hereditary
causes
of
deafness
.
It
is
characterized
by
autosomal-recessive
inheritance
of
sensorineural
hearing
loss
,
enlarged
vestibular
aqueducts
(
EVA
)
,
and
an
iodide
organification
defect
with
or
without
goiter
.
The
diagnosis
is
confirmed
by
detection
of
two
mutant
alleles
of
SLC
26
A
4
in
a
patient
with
EVA
.
The
perchlorate
discharge
test
can
detect
the
underlying
thyroid
biochemical
defect
and
is
useful
for
the
evaluation
of
goiter
or
for
the
clinical
diagnosis
of
PDS
in
a
patient
with
a
non-diagnostic
SLC
26
A
4
genotype
.
SLC
26
A
4
encodes
the
pendrin
polypeptide
,
an
anion
exchanger
that
,
in
recombinant
expression
systems
,
transports
chloride
,
bicarbonate
,
and
iodide
.
Investigation
of
pendrin
function
in
the
inner
ear
has
been
facilitated
by
the
Slc
26
a
4
(
Δ
)
(
knockout
)
mouse
model
,
but
the
exact
mechanism
of
its
hearing
loss
remains
unclear
,
as
does
pendrin
's
principal
transport
function
in
the
inner
ear
.
Treatment
of
PDS
is
focused
upon
rehabilitation
of
hearing
loss
,
and
surveillance
and
management
of
goiter
and
,
less
commonly
,
hypothyroidism
.
Diseases
Validation
Diseases presenting
"enlargement of the vestibular aqueduct"
symptom
pendred syndrome
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