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A random Abstract
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Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex.
[lymphangioleiomyomatosis]
Tuberous
sclerosis
complex
(
TSC
)
is
an
autosomal
dominant
genetic
disorder
caused
by
inactivating
mutations
in
either
the
TSC
1
or
TSC
2
genes
.
It
is
characterized
by
the
development
of
multiple
,
benign
tumors
in
several
organs
throughout
the
body
.
Lesions
occur
in
the
brain
,
kidneys
,
heart
,
liver
,
lungs
,
and
skin
and
result
in
seizures
and
epilepsy
,
mental
retardation
,
autism
,
and
renal
and
pulmonary
organ
system
dysfunction
,
as
well
as
other
complications
.
Elucidation
of
the
molecular
pathways
and
etiological
factors
responsible
for
causing
TSC
has
led
to
a
paradigm
shift
in
the
management
and
treatment
of
the
disease
.
TSC
1
or
TSC
2
mutations
lead
to
constitutive
upregulation
of
the
mammalian
target
of
rapamycin
pathway
,
which
affects
many
cellular
processes
involved
in
tumor
growth
.
By
targeting
mammalian
target
of
rapamycin
with
everolimus
,
an
orally
active
rapamycin
derivative
,
clinically
meaningful
and
statistically
significant
reductions
in
tumor
burden
have
been
achieved
for
the
main
brain
(
subependymal
giant
cell
astrocytoma
)
and
renal
manifestations
(
angiomyolipoma
)
associated
with
TSC
.
This
review
provides
an
overview
of
TSC
,
everolimus
,
and
the
clinical
trials
that
led
to
its
approval
for
the
treatment
of
TSC-associated
subependymal
giant
cell
astrocytoma
and
renal
angiomyolipoma
.
Diseases
Validation
Diseases presenting
"autism"
symptom
22q11.2 deletion syndrome
achondroplasia
aniridia
canavan disease
cohen syndrome
cowden syndrome
gm1 gangliosidosis
kabuki syndrome
krabbe disease
lymphangioleiomyomatosis
proteus syndrome
wolf-hirschhorn syndrome
This symptom has already been validated