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Genetic testing by cancer site: endocrine system.
[cowden syndrome]
Numerous
hereditary
syndromes
,
caused
by
mutations
in
multiple
tumor
suppressor
genes
and
oncogenes
,
can
cause
tumors
in
organs
of
the
endocrine
system
.
The
primary
syndromes
(
and
genes
)
addressed
here
include
multiple
endocrine
neoplasia
types
1
and
2
(
MEN
1
and
RET
genes
)
,
Cowden
syndrome
(
PTEN
)
,
hereditary
pheochromocytoma
/
paraganglioma
syndromes
(
multiple
genes
)
,
and
von
Hippel-
Lindau
disease
(
VHL
)
.
Clinical
genetic
testing
is
available
for
each
of
these
syndromes
and
is
generally
directed
to
individuals
with
endocrine
or
other
tumors
and
additional
features
suggestive
of
a
hereditary
syndrome
.
However
,
for
some
endocrine
tumors
,
the
proportion
because
of
heredity
is
so
high
that
genetic
testing
may
be
appropriate
for
all
affected
individuals
.
Management
for
hereditary
cases
typically
involves
aggressive
screening
and
/
or
surgical
protocols
,
starting
at
young
ages
to
minimize
morbidity
and
mortality
.
Endocrine
tumors
can
be
less
commonly
seen
in
a
number
of
other
hereditary
syndromes
(
eg
,
neurofibromatosis
)
,
which
are
not
reviewed
in
this
section
.
Diseases
Validation
Diseases presenting
"neurofibromatosis"
symptom
22q11.2 deletion syndrome
child syndrome
coats disease
cowden syndrome
dedifferentiated liposarcoma
kindler syndrome
monosomy 21
oculocutaneous albinism
pendred syndrome
proteus syndrome
von hippel-lindau disease
well-differentiated liposarcoma
This symptom has already been validated