Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
[oculocutaneous albinism]
Hypo-
and
hyperpigmentation
disorders
are
the
most
severe
dermatological
diseases
observed
in
patients
from
all
over
the
world
.
These
disorders
can
be
divided
into
melanoses
connected
with
disorders
of
melanocyte
function
and
melanocytoses
connected
with
melanocyte
development
.
The
article
presents
some
hereditary
hypomelanocytoses
,
which
are
caused
by
abnormal
melanoblast
development
,
migration
and
proliferation
as
well
as
by
abnormal
melanocyte
viability
and
proliferation
.
These
disorders
are
represented
by
Waardenburg
syndrome
,
piebaldism
and
Tietz
syndrome
,
and
are
caused
by
different
mutations
of
various
or
the
same
genes
.
The
types
of
mutations
comprise
missense
and
nonsense
mutations
,
frameshifts
(
in
-frame
insertions
or
deletions
)
,
truncating
variations
,
splice
alterations
and
non-stop
mutations
.
It
has
been
demonstrated
that
mutations
of
the
same
gene
may
cause
different
hypopigmentation
syndromes
that
may
have
similar
phenotypes
.
For
example
,
mutations
of
the
MITF
gene
cause
Waardenburg
syndrome
type
2
A
as
well
as
Tietz
syndrome
.
It
has
also
been
demonstrated
that
mutations
of
different
genes
may
cause
an
identical
syndrome
.
For
example
,
mutations
of
MITF
,
SNAI
2
and
SOX
10
genes
are
observed
in
Waardenburg
syndrome
type
II
and
mutations
of
EDNRB
,
EDN
3
and
SOX
10
genes
are
responsible
for
Waardenburg
syndrome
type
IV
.
In
turn
,
mutation
of
the
KIT
gene
and
/
or
heterozygous
deletion
of
the
SNAI
2
gene
result
in
piebaldism
disease
.
The
knowledge
of
the
exact
mechanisms
of
pigmentary
disorders
may
be
useful
in
the
development
of
new
therapeutic
approaches
to
their
treatment
.
Diseases
Validation
Diseases presenting
"hypopigmentation syndromes"
symptom
oculocutaneous albinism
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom