Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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The gene family of ABC transporters--novel mutations, new phenotypes.
[harlequin ichthyosis]
Members
of
the
ABC
(
ATP-binding
cassette
)
superfamily
of
genes
encode
transmembrane
proteins
that
are
involved
in
the
transport
of
a
variety
of
substrates
both
in
and
out
of
the
cells
,
in
addition
to
across
intracellular
membranes
.
Recently
,
mutations
in
two
ABC
-transporter
genes
,
ABCC
6
and
ABCA
12
,
have
been
demonstrated
to
underlie
phenotypically
different
diseases
affecting
the
skin
(
pseudoxanthoma
elasticum
and
harlequin
ichthyosis
,
respectively
)
,
attesting
to
the
spectrum
of
ABC
gene
mutations
in
human
diseases
.
These
findings
have
a
major
impact
on
the
molecular
genetics
of
these
devastating
disorders
in
terms
of
DNA-based
prenatal
testing
and
pre-implantation
genetic
diagnosis
.
Diseases
Validation
Diseases presenting
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated