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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
"respectively"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
kallmann syndrome
lamellar ichthyosis
liposarcoma
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
triple a syndrome
von hippel-lindau disease
well-differentiated liposarcoma
wolf-hirschhorn syndrome
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