Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
[harlequin ichthyosis]
Autosomal
recessive
congenital
ichthyoses
(
ARCI
)
include
several
severe
subtypes
including
harlequin
ichthyosis
(
HI
)
,
lamellar
ichthyosis
and
non-
bullous
congenital
ichthyosiform
erythroderma
.
Patients
with
these
severe
types
of
ichthyoses
frequently
show
severe
hyperkeratosis
and
scales
over
a
large
part
of
the
body
surface
form
birth
and
their
quality
of
life
is
often
severely
affected
.
Recently
,
research
into
the
pathomechanisms
of
these
severe
congenital
ichthyoses
have
advanced
dramatically
and
led
to
the
identification
of
several
causative
genes
and
molecules
underlying
the
genetic
defects
.
To
date
,
seven
loci
have
been
identified
that
are
associated
with
ARCI
and
,
among
them
,
five
causative
genes
and
molecules
have
been
detected
.
The
five
genes
are
transglutaminase
1
gene
(
TGM
1
)
,
ABCA
12
,
two
lipoxygenase
genes
,
ALOXE
3
and
ALOX
12
B
and
ichthyin
.
One
of
these
components
,
ABCA
12
,
has
recently
been
shown
to
be
a
keratinocyte
lipid
transporter
associated
with
lipid
transport
in
lamellar
granules
and
loss
of
ABCA
12
function
leads
to
a
defective
lipid
barrier
in
the
stratum
corneum
,
resulting
in
the
HI
phenotype
.
Transglutaminse
1
deficiency
was
reported
to
cause
a
malformed
cornified
cell
envelope
leading
to
a
defect
in
the
intercellular
lipid
layers
in
the
stratum
corneum
and
defective
stratum
corneum
barrier
function
resulting
in
an
ichthyosis
phenotype
.
Thus
,
defective
intercellular
lipid
layers
are
major
findings
in
autosomal
recessive
congenital
ichthyoses
.
Information
concerning
ARCI
genetic
defects
and
disease
pathomechanisms
are
beneficial
for
providing
better
treatments
and
genetic
counseling
including
prenatal
diagnosis
for
families
affect
by
ichthyoses
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom