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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
"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