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A random Abstract
Our Project
Our Team
Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases.
[harlequin ichthyosis]
To
review
recent
advances
in
our
understanding
of
the
genetic
pathomechanisms
of
harlequin
ichthyosis
(
HI
)
(
the
most
devastating
subtype
of
congenital
ichthyoses
)
and
its
prenatal
diagnosis
and
to
discuss
the
possibility
of
future
gene
therapy
.
PubMed
search
for
articles
about
HI
,
its
causative
protein
adenosine
triphosphate-binding
cassette
A
12
(
ABCA
12
)
,
and
related
molecules
.
English
-
language
studies
were
selected
if
they
provided
useful
information
about
the
pathomechanisms
of
HI
and
ABCA
lipid
transporters
.
This
article
describes
ABCA
12
as
a
causative
molecule
involved
in
defects
in
HI
,
summarizes
the
known
genetic
disorders
caused
by
genetic
defects
in
ABCA
lipid
transporters
,
and
highlights
the
prospects
of
prenatal
diagnosis
and
gene
therapy
for
HI
.
Harlequin
ichthyosis
is
caused
by
a
serious
functional
deficiency
of
ABCA
12
.
ABCA
12
and
ABCA
3
are
essential
lipid
transporters
for
human
adaptation
to
a
dry
terrestrial
environment
.
In
clinical
practice
,
information
regarding
the
genetic
defects
and
pathomechanisms
underlying
HI
is
important
for
precise
diagnosis
,
genetic
counseling
,
and
prenatal
diagnosis
.
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
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