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[Werner syndrome. A prototypical form of segmental progeria.]
[werner syndrome]
Werner
syndrome
is
a
segmental
progeroid
disorder
with
onset
in
adolescence
or
early
adulthood
.
Typical
symptoms
contributing
to
patients
'
prematurely
aged
appearance
include
postpubertal
development
of
short
stature
,
cataracts
,
premature
greying
/
thinning
of
scalp
hair
,
scleroderma
-like
skin
changes
and
regional
atrophy
of
subcutaneous
fat
tissue
.
In
addition
,
an
increased
rate
and
early
onset
of
typical
age-related
diseases
such
as
type
2
diabetes
mellitus
,
osteoporosis
,
atherosclerosis
,
and
various
malignancies
is
observed
.
Werner
syndrome
is
autosomal
recessively
inherited
and
caused
by
mutations
in
the
Werner
gene
(
WRN
)
.
To
date
,
more
than
70
WRN
mutations
have
been
identified
.
These
are
spread
over
the
entire
gene
and
typically
represent
loss
of
function
mutations
.
WRN
encodes
a
RecQ
type
helicase
involved
in
DNA
repair
and
the
maintenance
of
DNA
integrity
,
which
is
reflected
by
an
increased
genetic
instability
in
patient
cells
.
Despite
the
relative
rarity
of
Werner
syndrome
,
its
analysis
provides
important
general
insights
into
the
roles
of
DNA
stability
and
integrity
for
the
ageing
process
and
the
development
of
age-associated
diseases
.
Diseases
Validation
Diseases presenting
"diabetes mellitus"
symptom
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
alpha-thalassemia
child syndrome
cholangiocarcinoma
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
malignant atrophic papulosis
neuralgic amyotrophy
pyomyositis
sneddon syndrome
typhoid
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated