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Updated molecular genetics and pathogenesis of ichthiyoses.
[harlequin ichthyosis]
Research
into
the
molecular
genetics
and
pathomechanisms
of
ichthyoses
have
advanced
considerably
,
resulting
in
the
identification
of
several
causative
genes
and
molecules
underlying
the
disease
.
In
2009
,
the
First
Ichthyosis
Consensus
Conference
was
held
to
establish
a
consensus
for
the
nomenclature
and
classification
of
inherited
ichthyoses
,
by
which
an
international
consensus
for
the
classification
of
inherited
ichthyosis
was
achieved
.
In
this
review
,
the
pathogeneses
of
various
ichthyoses
are
summarized
based
on
their
revised
classification
and
terminology
.
Skin
barrier
defects
are
involved
in
the
pathogenesis
of
various
types
of
ichthyosis
.
The
known
causative
molecules
underlying
ichthyosis
include
ABCA
12
,
lipoxygenase-
3
,
12
R-
lipoxygenase
,
CYP
4
F
2
2
,
ichthyin
and
steroid
sulfatase
,
all
of
which
are
thought
to
be
related
to
the
intercellular
lipid
layers
.
ABCA
12
is
a
known
keratinocyte
lipid
transporter
associated
with
lipid
transport
in
lamellar
granules
and
a
loss
of
ABCA
12
function
leads
to
defective
lipid
transport
in
the
keratinocytes
,
resulting
in
the
most
severe
,
harlequin
ichthyosis
phenotype
.
Other
causative
molecules
for
ichthyoses
are
transglutaminase
1
,
keratins
and
filaggrin
.
Transglutaminase
1
plays
a
role
in
cornified
cell
envelope
formation
.
Keratins
1
,
10
and
2
are
involved
in
the
keratin
network
of
suprabasal
keratinocytes
and
filaggrin
is
essential
for
the
formation
of
keratohyalin
granules
.
It
is
important
to
obtain
information
concerning
genetic
defects
and
to
elucidate
ichthyotic
disease
pathomechanisms
for
the
establishment
of
an
effective
therapy
and
beneficial
genetic
counseling
,
including
a
prenatal
diagnosis
for
families
affected
by
ichthyotic
disease
.
Diseases
Validation
Diseases presenting
"a loss of abca12 function leads to defective lipid transport in the keratinocytes"
symptom
harlequin ichthyosis
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