Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The etiology and molecular genetics of human pigmentation disorders.
[oculocutaneous albinism]
Pigmentation
,
defined
as
the
placement
of
pigment
in
skin
,
hair
,
and
eyes
for
coloration
,
is
distinctive
because
the
location
,
amount
,
and
type
of
pigmentation
provides
a
visual
manifestation
of
genetic
heterogeneity
in
pathways
regulating
the
pigment-producing
cells
,
melanocytes
.
The
scope
of
this
genetic
heterogeneity
in
humans
ranges
from
normal
to
pathological
pigmentation
phenotypes
.
Clinically
,
normal
human
pigmentation
encompasses
a
variety
of
skin
and
hair
color
as
well
as
punctate
pigmentation
such
as
melanocytic
nevi
(
moles
)
or
ephelides
(
freckles
)
,
while
abnormal
human
pigmentation
exhibits
markedly
reduced
or
increased
pigment
levels
,
known
as
hypopigmentation
and
hyperpigmentation
,
respectively
.
Elucidation
of
the
molecular
genetics
underlying
pigmentation
has
revealed
genes
important
for
melanocyte
development
and
function
.
Furthermore
,
many
pigmentation
disorders
show
additional
defects
in
cells
other
than
melanocytes
,
and
identification
of
the
genetic
insults
in
these
disorders
has
revealed
pleiotropic
genes
,
where
a
single
gene
is
required
for
various
functions
in
different
cell
types
.
Thus
,
unravelling
the
genetics
of
easily
visualized
pigmentation
disorders
has
identified
molecular
similarities
between
melanocytes
and
less
visible
cell
types
/
tissues
,
arising
from
a
common
developmental
origin
and
/
or
shared
genetic
regulatory
pathways
.
Herein
we
discuss
notable
human
pigmentation
disorders
and
their
associated
genetic
alterations
,
focusing
on
the
fact
that
the
developmental
genetics
of
pigmentation
abnormalities
are
instructive
for
understanding
normal
pathways
governing
development
and
function
of
melanocytes
.
Diseases
Validation
Diseases presenting
"associated genetic alterations, focusing on the fact that the developmental genetics"
symptom
oculocutaneous albinism
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom