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A random Abstract
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Genetic syndromes caused by mutations in epigenetic genes.
[kabuki syndrome]
The
orchestrated
organization
of
epigenetic
factors
that
control
chromatin
dynamism
,
including
DNA
methylation
,
histone
marks
,
non-coding
RNAs
(
ncRNAs
)
and
chromatin-remodeling
proteins
,
is
essential
for
the
proper
function
of
tissue
homeostasis
,
cell
identity
and
development
.
Indeed
,
deregulation
of
epigenetic
profiles
has
been
described
in
several
human
pathologies
,
including
complex
diseases
(
such
as
cancer
,
cardiovascular
and
neurological
diseases
)
,
metabolic
pathologies
(
type
2
diabetes
and
obesity
)
and
imprinting
disorders
.
Over
the
last
decade
it
has
become
increasingly
clear
that
mutations
of
genes
involved
in
epigenetic
mechanism
,
such
as
DNA
methyltransferases
,
methyl-binding
domain
proteins
,
histone
deacetylases
,
histone
methylases
and
members
of
the
SWI
/
SNF
family
of
chromatin
remodelers
are
linked
to
human
disorders
,
including
Immunodeficiency
Centromeric
instability
Facial
syndrome
1
,
Rett
syndrome
,
Rubinstein-
Taybi
syndrome
,
Sotos
syndrome
or
alpha-thalassemia
/
mental
retardation
X-
linked
syndrome
,
among
others
.
As
new
members
of
the
epigenetic
machinery
are
described
,
the
number
of
human
syndromes
associated
with
epigenetic
alterations
increases
.
As
recent
examples
,
mutations
of
histone
demethylases
and
members
of
the
non-coding
RNA
machinery
have
recently
been
associated
with
Kabuki
syndrome
,
Claes
-
Jensen
X-
linked
mental
retardation
syndrome
and
Goiter
syndrome
.
In
this
review
,
we
describe
the
variety
of
germline
mutations
of
epigenetic
modifiers
that
are
known
to
be
associated
with
human
disorders
,
and
discuss
the
therapeutic
potential
of
epigenetic
drugs
as
palliative
care
strategies
in
the
treatment
of
such
disorders
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated