Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Rare hereditary diseases with defects in DNA-repair.
[werner syndrome]
The
human
genome
is
constantly
exposed
to
various
sources
of
DNA
damage
.
Ineffective
protection
from
this
damage
leads
to
genetic
instability
which
can
ultimately
give
rise
to
somatic
disease
,
causing
mutations
.
Therefore
our
organism
commands
a
number
of
highly
conserved
and
effective
mechanisms
responsible
for
DNA
repair
.
If
these
repair
mechanisms
are
defective
due
to
germline
mutations
in
relevant
genes
,
rare
diseases
with
DNA
repair
deficiencies
can
arise
.
Today
,
a
limited
number
of
rare
hereditary
diseases
characterized
by
genetic
defects
of
DNA
repair
mechanisms
is
known
,
comprising
ataxia
telangiectasia
,
Nijmegen
breakage
syndrome
,
Werner
syndrome
,
Bloom
Syndrome
,
Fanconi
anemia
,
xeroderma
pigmentosum
,
Cockayne
syndrome
,
trichothiodystrophy
.
Although
heterogeneous
in
respect
to
selected
symptoms
,
these
rare
disorders
share
many
clinical
features
such
as
growth
retardation
,
neurological
disorders
,
premature
ageing
,
skin
alterations
including
abnormal
pigmentation
,
telangiectasia
,
xerosis
cutis
,
pathological
wound
healing
as
well
as
an
increased
risk
of
developing
different
types
of
cancer
.
Based
on
the
clinical
similarities
of
symptoms
as
well
as
the
predominant
diagnostic
technology
available
,
many
of
these
rare
disorders
were
formerly
classified
as
genodermatoses
with
cancer
predisposition
or
chromosomal
breakage
symptoms
.
These
pathological
conditions
not
only
severely
impair
patients
with
these
rare
genetic
diseases
but
also
represent
symptoms
affecting
large
parts
of
the
general
population
.
Diseases
Validation
Diseases presenting
"telangiectasia"
symptom
coats disease
cowden syndrome
cutaneous mastocytosis
hereditary cerebral hemorrhage with amyloidosis
kallmann syndrome
kindler syndrome
malignant atrophic papulosis
omenn syndrome
pendred syndrome
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
waldenström macroglobulinemia
werner syndrome
This symptom has already been validated