Rare Diseases Symptoms Automatic Extraction
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[Ocular manifestations in hereditary diseases with defects in DNA repair].
[werner syndrome]
DNA
repair
is
involved
in
maintaining
the
stability
of
the
genome
and
accurate
sending
of
genetic
information
.
DNA
repair
pathways
remove
many
DNA
damages
induced
by
endo-
and
exogenous
factors
.
There
are
several
DNA
repair
pathways
in
human
cells
,
including
base
or
nucleotide
excision
system
,
homologous
recombination
system
and
non-homologous
end
joining
.
Mutation
in
DNA
repair
genes
may
results
in
rare
genetic
disorders
,
including
Xeroderma
pigmentosum
,
Cockayne
syndrom
,
trichothiodystrophy
,
Nijmegen
syndrome
,
ataxia
teleangiectasia
,
Werner
syndrome
,
Bloom
syndrome
,
Rothmund-
Thomson
syndrome
.
These
diseases
may
be
associated
with
various
visual
disturbances
.
In
this
work
we
review
we
focus
on
human
genetic
diseases
linked
with
mutations
in
DNA
repair
genes
associated
with
visual
impairment
.
Diseases
Validation
Diseases presenting
"ataxia"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
cadasil
canavan disease
cholangiocarcinoma
cystinuria
dystrophic epidermolysis bullosa
familial mediterranean fever
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
lamellar ichthyosis
locked-in syndrome
omenn syndrome
phenylketonuria
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
triple a syndrome
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated