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Increasing the complexity: new genes and new types of albinism.
[oculocutaneous albinism]
Albinism
is
a
rare
genetic
condition
globally
characterized
by
a
number
of
specific
deficits
in
the
visual
system
,
resulting
in
poor
vision
,
in
association
with
a
variable
hypopigmentation
phenotype
.
This
lack
or
reduction
in
pigment
might
affect
the
eyes
,
skin
,
and
hair
(
oculocutaneous
albinism
,
OCA
)
,
or
only
the
eyes
(
ocular
albinism
,
OA
)
.
In
addition
,
there
are
several
syndromic
forms
of
albinism
(
e
.
g
.
Hermansky-
Pudlak
and
Chediak-
Higashi
syndromes
,
HPS
and
CHS
,
respectively
)
in
which
the
described
hypopigmented
and
visual
phenotypes
coexist
with
more
severe
pathological
alterations
.
Recently
,
a
locus
has
been
mapped
to
the
4
q
24
human
chromosomal
region
and
thus
represents
an
additional
genetic
cause
of
OCA
,
termed
OCA
5
,
while
the
gene
is
eventually
identified
.
In
addition
,
two
new
genes
have
been
identified
as
causing
OCA
when
mutated
:
SLC
24
A
5
and
C
10
orf
11
,
and
hence
designated
as
OCA
6
and
OCA
7
,
respectively
.
This
consensus
review
,
involving
all
laboratories
that
have
reported
these
new
genes
,
aims
to
update
and
agree
upon
the
current
gene
nomenclature
and
types
of
albinism
,
while
providing
additional
insights
from
the
function
of
these
new
genes
in
pigment
cells
.
Diseases
Validation
Diseases presenting
"rare genetic condition"
symptom
congenital toxoplasmosis
cowden syndrome
epidermolysis bullosa simplex
homocystinuria without methylmalonic aciduria
kabuki syndrome
oculocutaneous albinism
phenylketonuria
wolf-hirschhorn syndrome
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