Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Genetics of neuroendocrine tumours, hereditary tumour syndromes].
[von hippel-lindau disease]
Neuroendocrine
tumours
occur
in
some
hereditary
tumour
syndromes
,
and
the
molecular
pathophysiological
mechanisms
involved
in
these
are
also
important
in
their
sporadic
counterparts
which
representing
the
majority
of
neuroendocrine
tumours
.
These
syndromes
include
multiple
endocrine
neoplasia
type
1
,
von
Hippel-
Lindau
syndrome
,
neurofibromatosis
type
1
and
tuberous
sclerosis
.
All
these
follow
an
autosomal
dominant
inheritance
.
The
primarily
affected
molecular
pathways
are
Ras-
MAPK
signalling
,
hypoxia
induced
factor
1
α
,
and
mTOR
signalling
that
are
also
involved
in
sporadic
tumours
and
may
even
represent
potential
molecular
targets
of
therapy
.
In
this
review
,
the
major
characteristics
of
hereditary
tumour
syndromes
,
their
molecular
genetics
and
the
pathophysiological
mechanisms
involved
in
sporadic
tumours
are
discussed
.
Diseases
Validation
Diseases presenting
"affected molecular pathways"
symptom
von hippel-lindau disease
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom