Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Our Team
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
[benign recurrent intrahepatic cholestasis]
Cholestasis
,
or
impaired
bile
flow
,
is
an
important
but
poorly
understood
manifestation
of
liver
disease
.
Two
clinically
distinct
forms
of
inherited
cholestasis
,
benign
recurrent
intrahepatic
cholestasis
(
BRIC
)
and
progressive
familial
intrahepatic
cholestasis
type
1
(
PFIC
1
)
,
were
previously
mapped
to
18
q
21
.
Haplotype
analysis
narrowed
the
candidate
region
for
both
diseases
to
the
same
interval
of
less
than
1
cM
,
in
which
we
identified
a
gene
mutated
in
BRIC
and
PFIC
1
patients
.
This
gene
(
called
FIC
1
)
is
the
first
identified
human
member
of
a
recently
described
subfamily
of
P-
type
ATPases
;
ATP-dependent
aminophospholipid
transport
is
the
previously
described
function
of
members
of
this
subfamily
.
FIC
1
is
expressed
in
several
epithelial
tissues
and
,
surprisingly
,
more
strongly
in
small
intestine
than
in
liver
.
Its
protein
product
is
likely
to
play
an
essential
role
in
enterohepatic
circulation
of
bile
acids
;
further
characterization
of
FIC
1
will
facilitate
understanding
of
normal
bile
formation
and
cholestasis
.
Diseases
Validation
Diseases presenting
"liver disease"
symptom
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
cholangiocarcinoma
cutaneous mastocytosis
erythropoietic protoporphyria
legionellosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
typhoid
zellweger syndrome
This symptom has already been validated
