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Von hippel-lindau disease: a new approach to an old problem.
[von hippel-lindau disease]
Von
Hippel-
Lindau
(
VHL
)
disease
is
a
hereditary
,
autosomal
dominant
syndrome
which
is
manifested
by
a
range
of
different
benign
and
malignant
tumors
.
This
disease
can
present
with
different
clinical
presentations
such
as
;
retinal
angioma
(
RA
)
,
hemangioblastoma
(
HB
)
of
the
central
nervous
system
(
CNS
)
,
pheochromocytoma
(
Pheo
)
,
and
epididymal
cystadenoma
.
Tumors
are
usually
accompanied
with
cysts
.
As
the
disease
can
display
different
clinical
presentations
,
which
are
mainly
unspecific
,
and
considering
the
importance
of
an
early
diagnosis
and
the
proper
and
early
management
of
it
,
this
study
was
carried
out
to
present
a
general
overview
of
VHL
.
Moreover
,
the
present
article
reviews
screening
methods
and
emphasizes
the
need
for
increasing
the
awareness
of
different
health
care
professionals
to
diagnose
and
refer
the
patients
in
the
early
stages
.
A
thorough
search
of
internet
medical
databases
,
such
as
PubMed
,
was
carried
out
on
known
or
suggested
;
clinical
presentations
,
pathogenesis
,
screening
,
causes
and
criteria
for
diagnosis
of
patients
and
their
referrals
.
Our
research
demonstrated
that
VHL
is
caused
by
a
mutation
in
the
von
Hippel-
Lindau
(
VHL
)
gene
.
It
also
showed
that
different
screening
methods
can
be
utilized
for
the
early
diagnosis
and
referral
of
patients
.
Different
clinical
presentations
of
the
disease
are
also
elaborated
in
some
detail
and
their
treatment
options
are
discussed
.
Considering
the
need
for
a
multidisciplinary
approach
to
VHL
,
especially
,
given
the
number
of
cases
which
have
been
reported
and
diagnosed
in
Iran
,
it
is
of
great
importance
that
clinicians
remain
vigilant
in
order
to
identify
cases
that
present
with
clinical
characteristics
of
the
disease
,
and
that
they
are
prompt
in
referring
them
to
a
multidisciplinary
VHL
clinic
.
It
is
also
important
to
establish
links
with
existing
VHL
Family
Alliances
and
other
related
organizations
around
the
world
.
Diseases
Validation
Diseases presenting
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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