Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Our Team
Genetic testing by cancer site: colon (polyposis syndromes).
[cowden syndrome]
Hereditary
colonic
polyposis
conditions
are
all
characterized
by
high
rates
of
cancer
,
but
they
have
diverse
phenotypes
,
genetic
heterogeneity
,
and
assorted
inheritance
patterns
.
The
most
well
known
of
these
conditions
include
familial
adenomatous
polyposis
,
attenuated
familial
adenomatous
polyposis
,
MUTYH
(
MutY
human
homolog
)
-
associated
polyposis
,
Peutz-
Jeghers
syndrome
,
juvenile
polyposis
syndrome
,
and
Cowden
syndrome
.
Early
recognition
of
these
conditions
is
not
only
vital
for
management
in
affected
individuals
,
but
also
for
prevention
and
early
detection
in
at
-risk
relatives
.
Reviewed
here
are
the
genetic
testing
strategies
for
colonic
polyposis
,
as
well
as
an
overview
of
characteristic
features
and
management
considerations
for
these
syndromes
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated