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Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.
[werner syndrome]
Segmental
progeroid
syndromes
are
a
group
of
disorders
with
multiple
features
resembling
accelerated
aging
.
Adult-onset
Werner
syndrome
(
WS
)
and
childhood-onset
Hutchinson-
Gilford
progeria
syndrome
are
the
best
known
examples
.
The
discovery
of
genes
responsible
for
such
syndromes
has
facilitated
our
understanding
of
the
basic
mechanisms
of
aging
as
well
as
the
pathogenesis
of
other
common
,
age-related
diseases
.
Our
International
Registry
of
Werner
Syndrome
accesses
progeroid
pedigrees
from
all
over
the
world
,
including
those
for
whom
we
have
ruled
out
a
mutation
at
the
WRN
locus
.
Cases
without
WRN
mutations
are
operationally
categorized
as
'
atypical
WS
'
(
AWS
)
.
In
2003
,
we
identified
LMNA
mutations
among
a
subset
of
AWS
cases
using
a
candidate
gene
approach
.
As
of
2013
,
the
Registry
has
142
WS
patients
with
WRN
mutations
,
11
AWS
patients
with
LMNA
mutations
,
and
49
AWS
patients
that
have
neither
WRN
nor
LMNA
mutations
.
Efforts
are
underway
to
identify
the
responsible
genes
for
AWS
with
unknown
genetic
causes
.
While
WS
and
AWS
are
rare
disorders
,
the
causative
genes
have
been
shown
to
have
much
wider
implications
for
cancer
,
cardiovascular
disease
and
the
biology
of
aging
.
Remarkably
,
centenarian
studies
revealed
WRN
and
LMNA
polymorphic
variants
among
those
who
have
escaped
various
geriatric
disorders
.
Diseases
Validation
Diseases presenting
"unknown genetic causes"
symptom
werner syndrome
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