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Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals.
[oculocutaneous albinism]
The
characterisation
of
the
pleiotropic
effects
of
coat
colour-associated
mutations
in
mammals
illustrates
that
sensory
organs
and
nerves
are
particularly
affected
by
disorders
because
of
the
shared
origin
of
melanocytes
and
neurocytes
in
the
neural
crest
;
e
.
g
.
the
eye
-colour
is
a
valuable
indicator
of
disorders
in
pigment
production
and
eye
dysfunctions
.
Disorders
related
to
coat
colour-associated
alleles
also
occur
in
the
skin
(
melanoma
)
,
reproductive
tract
and
immune
system
.
Additionally
,
the
coat
colour
phenotype
of
an
individual
influences
its
general
behaviour
and
fitness
.
Mutations
in
the
same
genes
often
produce
similar
coat
colours
and
pleiotropic
effects
in
different
species
(
e
.
g
.
,
KIT
[
reproductive
disorders
,
lethality
]
,
EDNRB
[
megacolon
]
and
LYST
[
CHS
]
)
.
Whereas
similar
disorders
and
similar-looking
coat
colour
phenotypes
sometimes
have
a
different
genetic
background
(
e
.
g
.
,
deafness
[
EDN
3
/
EDNRB
,
MITF
,
PAX
and
SNAI
2
]
and
visual
diseases
[
OCA
2
,
RAB
38
,
SLC
24
A
5
,
SLC
45
A
2
,
TRPM
1
and
TYR
]
)
.
The
human
predilection
for
fancy
phenotypes
that
ignore
disorders
and
genetic
defects
is
a
major
driving
force
for
the
increase
of
pleiotropic
effects
in
domestic
species
and
laboratory
subjects
since
domestication
has
commenced
approximately
18
,
000
years
ago
.
Diseases
Validation
Diseases presenting
"different genetic background"
symptom
kindler syndrome
oculocutaneous albinism
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