Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Is mTOR inhibition a systemic treatment for tuberous sclerosis?
[lymphangioleiomyomatosis]
Tuberous
sclerosis
complex
(
TSC
)
is
a
genetic
multisystem
disorder
characterized
by
the
development
of
hamartomas
in
several
organs
.
Mutations
in
the
TSC
1
and
TSC
2
tumor
suppressor
genes
determin
overactivation
of
the
mammalian
target
of
rapamycin
(
mTOR
)
signaling
pathway
and
subsequent
abnormalities
in
numerous
cell
processes
.
As
a
result
,
mTOR
inhibitors
such
as
sirolimus
and
everolimus
have
the
potential
to
provide
targeted
therapy
for
TSC
patients
.
Everolimus
has
been
recently
approved
as
a
pharmacotherapy
option
for
TSC
patients
with
subependymal
giant
-cell
astrocytomas
(
SEGAs
)
or
renal
angiomyolipomas
(
AMLs
)
.
However
,
clinical
evidence
suggests
that
this
treatment
can
benefit
other
TSC-associated
disease
manifestations
,
such
as
skin
manifestations
,
pulmonary
lymphangioleiomyomatosis
,
cardiac
rhabdomyomas
,
and
epilepsy
.
Therefore
,
the
positive
effects
that
mTOR
inhibition
have
on
a
wide
variety
of
TSC
disease
manifestations
make
this
a
potential
systemic
treatment
option
for
this
genetic
multifaceted
disorder
.
Diseases
Validation
Diseases presenting
"wide variety"
symptom
alexander disease
allergic bronchopulmonary aspergillosis
cadasil
erythropoietic protoporphyria
esophageal carcinoma
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
junctional epidermolysis bullosa
lamellar ichthyosis
lymphangioleiomyomatosis
oral submucous fibrosis
pleomorphic liposarcoma
proteus syndrome
severe combined immunodeficiency
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom