Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
[kindler syndrome]
Kindler
syndrome
is
an
autosomal
recessive
disorder
characterized
by
neonatal
blistering
,
sun
sensitivity
,
atrophy
,
abnormal
pigmentation
,
and
fragility
of
the
skin
.
Linkage
and
homozygosity
analysis
in
an
isolated
Panamanian
cohort
and
in
additional
inbred
families
mapped
the
gene
to
20
p
12
.
3
.
Loss
-of-function
mutations
were
identified
in
the
FLJ
20116
gene
(
renamed
"
KIND
1
"
[
encoding
kindlin-
1
]
)
.
Kindlin-
1
is
a
human
homolog
of
the
Caenorhabditis
elegans
protein
UNC-
112
,
a
membrane-associated
structural
/
signaling
protein
that
has
been
implicated
in
linking
the
actin
cytoskeleton
to
the
extracellular
matrix
(
ECM
)
.
Thus
,
Kindler
syndrome
is
,
to
our
knowledge
,
the
first
skin
fragility
disorder
caused
by
a
defect
in
actin-
ECM
linkage
,
rather
than
keratin-
ECM
linkage
.
Diseases
Validation
Diseases presenting
"skin fragility"
symptom
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
This symptom has already been validated