Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
[cadasil]
CADASIL
is
an
autosomal
dominant
inherited
disease
,
characterized
by
mid-adult
onset
of
cerebrovascular
disease
and
dementia
.
CADASIL
is
caused
by
mutations
in
the
NOTCH
3
gene
,
which
encodes
the
NOTCH
3
protein
.
Pathogenic
mutations
in
CADASIL
are
highly
distinctive
in
the
sense
that
they
lead
to
the
loss
or
gain
of
a
cysteine
residue
in
1
of
the
34
EGFr
domains
of
the
NOTCH
3
protein
.
The
majority
are
missense
mutations
,
but
small
deletions
,
insertions
and
splice-site
mutations
have
been
reported
,
which
typically
also
lead
to
a
numerical
cysteine
alteration
.
Whether
numerical
cysteine-altering
mutations
are
a
rule
in
CADASIL
remains
subject
of
debate
,
as
there
are
reports
suggesting
pathogenicity
of
other
types
of
mutations
.
However
,
for
most
of
these
the
association
with
CADASIL
was
later
revoked
or
is
questionable
.
Here
,
we
discuss
and
provide
recommendations
for
the
interpretation
of
NOTCH
3
mutations
in
the
diagnosis
of
CADASIL
.
Diseases
Validation
Diseases presenting
"dementia"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
phenylketonuria
sneddon syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated