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A random Abstract
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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
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated