Rare Diseases Symptoms Automatic Extraction
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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
"rare diseases with dna repair deficiencies can arise"
symptom
werner syndrome
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