Rare Diseases Symptoms Automatic Extraction
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Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24.
[benign recurrent intrahepatic cholestasis]
Benign
recurrent
intrahepatic
cholestasis
(
BRIC
)
is
an
autosomal
recessive
liver
disease
characterized
by
multiple
episodes
of
cholestasis
without
progression
to
chronic
liver
disease
.
On
the
basis
of
recent
evidence
of
locus
heterogeneity
,
we
studied
19
subjects
(
7
affected
members
)
of
a
BRIC
family
.
Male
-
to
-male
transmission
and
the
presence
of
affected
females
suggested
autosomal
dominant
inheritance
.
Blood
samples
were
collected
after
informed
consent
.
Subjects
were
genotyped
by
using
markers
mapping
to
18
q
and
2
q
24
region
,
respectively
,
where
the
genes
FIC
1
and
FIC
2
have
been
mapped
.
Segregation
of
haplotypes
excluded
the
two
regions
in
our
family
.
These
findings
suggest
further
genetic
heterogeneity
of
the
origin
of
BRIC
.
Diseases
Validation
Diseases presenting
"intrahepatic cholestasis"
symptom
benign recurrent intrahepatic cholestasis
zellweger syndrome
This symptom has already been validated
