Rare Diseases Symptoms Automatic Extraction
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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
"hypothyroidism"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alpha-thalassemia
aromatase deficiency
congenital adrenal hyperplasia
cowden syndrome
cushing syndrome
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
inclusion body myositis
kallmann syndrome
pendred syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated