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Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
[kindler syndrome]
Mutations
in
the
FERMT
1
gene
(
also
known
as
KIND
1
)
,
encoding
the
focal
adhesion
protein
kindlin-
1
,
underlie
the
Kindler
syndrome
(
KS
)
,
an
autosomal
recessive
skin
disorder
with
an
intriguing
progressive
phenotype
comprising
skin
blistering
,
photosensitivity
,
progressive
poikiloderma
with
extensive
skin
atrophy
,
and
propensity
to
skin
cancer
.
Herein
we
review
the
clinical
and
genetic
data
of
62
patients
,
and
delineate
the
natural
history
of
the
disorder
,
for
example
,
age
at
onset
of
symptoms
,
or
risk
of
malignancy
.
Although
most
mutations
are
predicted
to
lead
to
premature
termination
of
translation
,
and
to
loss
of
kindlin-
1
function
,
significant
clinical
variability
is
observed
among
patients
.
There
is
an
association
of
FERMT
1
missense
and
in
-frame
deletion
mutations
with
milder
disease
phenotypes
,
and
later
onset
of
complications
.
Nevertheless
,
the
clinical
variability
is
not
fully
explained
by
genotype-phenotype
correlations
.
Environmental
factors
and
yet
unidentified
modifiers
may
play
a
role
.
Better
understanding
of
the
molecular
pathogenesis
of
KS
should
enable
the
development
of
prevention
strategies
for
disease
complications
.
Diseases
Validation
Diseases presenting
"later onset"
symptom
alexander disease
homocystinuria without methylmalonic aciduria
kindler syndrome
krabbe disease
primary hyperoxaluria type 1
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