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A random Abstract
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The ESF meeting on "The proteomics, epigenetics and pharmacogenetics of pendrin".
[pendred syndrome]
Human
pendrin
(
SCL
26
A
4
,
PDS
)
is
a
780
amino
acid
integral
membrane
protein
with
transport
function
.
It
acts
as
an
electroneutral
,
sodium-independent
anion
exchanger
for
a
wide
range
of
anions
,
such
as
iodide
,
chloride
,
formate
,
bicarbonate
,
hydroxide
and
thiocyanate
.
Pendrin
expression
was
originally
described
in
the
thyroid
gland
,
kidney
and
inner
ear
.
Accordingly
,
pendrin
mutations
with
reduction
or
loss
of
transport
function
result
in
thyroid
and
inner
ear
abnormalities
,
manifested
as
syndromic
(
Pendred
syndrome
)
and
non-syndromic
hearing
loss
with
an
enlarged
vestibular
aqueduct
(
ns-
EVA
)
.
Pendred
syndrome
,
the
most
common
form
of
syndromic
deafness
,
is
an
autosomal
recessive
disease
characterized
by
sensorineural
deafness
due
to
inner
ear
malformations
and
a
partial
iodide
organification
defect
that
may
lead
to
thyroid
goiter
.
Later
,
it
became
evident
that
not
only
pendrin
loss
of
function
,
but
also
up-regulation
could
participate
in
the
pathogenesis
of
human
diseases
.
Indeed
,
despite
the
absence
of
kidney
dysfunction
in
Pendred
syndrome
patients
,
evidence
exists
that
pendrin
also
plays
a
crucial
role
in
this
organ
,
with
a
potential
involvement
in
the
pathogenesis
of
hypertension
.
In
addition
,
recent
data
underscore
the
role
of
pendrin
in
exacerbations
of
respiratory
distresses
including
bronchial
asthma
and
chronic
obstructive
pulmonary
disease
(
COPD
)
.
Pendrin
expression
in
other
organs
such
as
mammary
gland
,
testis
,
placenta
,
endometrium
and
liver
point
to
new
,
underscored
pendrin
functions
that
deserve
to
be
further
investigated
.
Diseases
Validation
Diseases presenting
"non-syndromic hearing loss"
symptom
kallmann syndrome
pendred syndrome
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