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The genetic basis of mast cell activation disease - looking through a glass darkly.
[cutaneous mastocytosis]
Within
the
last
decade
,
and
in
particular
since
2012
,
research
has
greatly
extended
our
understanding
of
the
molecular
basis
of
systemic
mast
cell
activation
disease
(
MCAD
)
.
Initial
studies
demonstrated
that
somatic
mutations
in
the
tyrosine
kinase
KIT
led
to
the
establishment
of
a
clonal
mast
cell
population
.
Recent
studies
,
in
particular
those
involving
next
generation
sequencing
analyses
of
advanced
systemic
mastocytosis
,
have
revealed
mutations
in
additional
genes
.
The
respective
genes
encode
proteins
for
various
signaling
pathways
,
epigenetic
regulators
,
the
RNA
splicing
machinery
,
and
transcription
factors
.
Although
almost
all
of
the
detected
mutations
are
somatic
in
nature
,
transgenerational
transmission
of
MCAD
appears
to
be
quite
common
.
However
,
the
molecular
mechanisms
underlying
genetic
predestination
,
e
.
g
.
germline
mutations
and
the
contribution
of
epigenetic
processes
,
still
await
identification
.
The
aim
of
the
present
review
is
to
present
and
discuss
available
genetic
findings
,
and
to
outline
the
relationship
between
adult-onset
systemic
MCAD
and
childhood-onset
mastocytosis
,
often
termed
cutaneous
mastocytosis
,
on
the
basis
of
current
genetic
data
.
Finally
,
the
implications
of
increased
knowledge
of
the
molecular
basis
of
MCAD
in
terms
of
diagnostics
and
therapy
are
discussed
.
Diseases
Validation
Diseases presenting
"and to outline the relationship between adult-onset systemic mcad and childhood-onset mastocytosis"
symptom
cutaneous mastocytosis
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