Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family.
[cutaneous mastocytosis]
Diffuse
cutaneous
mastocytosis
(
DCM
)
is
an
extremely
rare
disease
characterized
by
massive
proliferation
of
mast
cells
infiltrating
the
entire
skin
.
We
report
a
Chinese
family
with
indolent
DCM
,
and
detection
of
a
new
germline
KIT
mutation
located
in
the
fifth
immunoglobulin-like
loop
of
the
KIT
protein
,
which
probably
results
in
a
gain-of-function
effect
and
consequent
overactivation
of
mast
cells
.
Our
report
expands
the
knowledge
of
correlations
between
the
genotype
of
KIT
mutations
and
the
phenotype
of
DCM
.
Diseases
Validation
Diseases presenting
"fifth immunoglobulin-like loop of the kit protein"
symptom
cutaneous mastocytosis
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom