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Von hippel-lindau disease: a genetic and clinical review.
[von hippel-lindau disease]
Von
Hippel-
Lindau
Disease
(
VHL
)
is
an
autosomal
dominant
inherited
systemic
cancer
syndrome
that
gives
rise
to
cystic
and
highly
vascularized
tumors
in
many
organs
,
including
the
eye
.
Recent
studies
have
contributed
to
the
understanding
of
VHL
pathophysiology
,
genetics
,
and
the
role
of
the
VHL
protein
.
This
article
reviews
recent
studies
on
VHL
clinical
findings
,
genetics
and
tumorigenesis
.
Literature
review
of
articles
on
VHL
genetics
with
correlation
to
clinical
findings
.
Genotype-phenotype
correlation
studies
show
that
patients
with
a
complete
deletion
mutation
of
the
VHL
gene
,
relative
to
participants
with
a
missense
or
protein-truncating
mutation
,
had
better
visual
acuity
and
decreased
tumorigenesis
incidence
of
retinal
hemangioblastomas
.
It
has
also
been
documented
that
higher
levels
of
vascular
endothelial
growth
factor
(
VEGF
)
,
hypoxia
induced
factor
(
HIF
)
,
and
ubiquitin
are
found
in
ocular
hemangioblastomas
.
The
stromal
foamy
vacuolated
cells
seem
to
be
the
true
tumor
cells
of
the
disease
acting
on
the
surrounding
endothelial
cells
in
ocular
hemangioblastomas
.
Tumor
cells
and
ocular
lesions
have
shown
increased
levels
of
Erythropoietin
(
Epo
)
,
Epo
receptor
(
EpoR
)
,
and
CD
133
.
Also
,
CXCR
4
,
a
CXC
chemokine
receptor
,
is
expressed
in
retinal
VHL
hemangioblastomas
.
Recent
studies
suggest
that
the
VHL
mutation
alone
may
not
be
sufficient
to
develop
VHL
-associated
neoplasms
.
Studies
suggest
that
targeting
various
proteins
along
with
anti-angiogenesis
molecules
may
be
a
better
therapeutic
approach
than
targeting
VEGF
alone
.
Understanding
of
the
mechanisms
and
genetics
underlying
VHL
and
its
associated
retinal
hemangioblastomas
has
increased
substantially
in
recent
years
.
This
knowledge
suggests
that
future
advances
may
include
better
identification
of
individuals
at
higher
risk
of
vision
loss
and
the
development
of
novel
individualized
therapies
.
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