Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Genetics and phenomics of Pendred syndrome.
[pendred syndrome]
Pendred
syndrome
is
an
autosomal
recessive
disorder
characterized
by
sensorineural
deafness
,
goiter
and
a
partial
defect
in
iodide
organification
.
Goiter
development
and
hypothyroidism
vary
and
appear
to
depend
on
nutritional
iodide
intake
.
Pendred
syndrome
is
caused
by
biallelic
mutations
in
the
SLC
26
A
4
gene
,
which
encodes
pendrin
,
a
multifunctional
anion
exchanger
.
Pendrin
is
mainly
expressed
in
the
thyroid
,
the
inner
ear
,
and
the
kidney
.
In
the
thyroid
,
pendrin
localizes
to
the
apical
membrane
of
thyrocytes
,
where
it
may
be
involved
in
mediating
iodide
efflux
.
Loss
-of-function
mutations
in
the
SLC
26
A
4
gene
are
associated
with
a
partial
iodide
organification
defect
,
presumably
because
of
a
reduced
iodide
efflux
into
the
follicular
lumen
.
In
the
kidney
,
pendrin
functions
as
a
chloride
/
bicarbonate
exchanger
.
In
the
inner
ear
,
pendrin
is
important
in
the
maintenance
of
a
normal
anion
transport
and
the
endocochlear
potential
.
Elucidation
of
the
function
of
pendrin
has
provided
unexpected
novel
insights
into
the
pathophysiology
of
thyroid
hormone
biosynthesis
,
chloride
retention
in
the
kidney
,
and
composition
of
the
endolymph
.
Diseases
Validation
Diseases presenting
"thyroid hormone biosynthesis"
symptom
pendred syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom