Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Genetic obesity syndromes.
[cohen syndrome]
There
are
numerous
reports
of
multi-system
genetic
disorders
with
obesity
.
Many
have
a
characteristic
presentation
and
several
,
an
overlapping
phenotype
indicating
the
likelihood
of
a
shared
common
underlying
mechanism
or
pathway
.
By
understanding
the
genetic
causes
and
functional
perturbations
of
such
syndromes
we
stand
to
gain
tremendous
insight
into
obesogenic
pathways
.
In
this
review
we
focus
particularly
on
Bardet-
Biedl
syndrome
,
whose
molecular
genetics
and
cell
biology
has
been
elucidated
recently
,
and
Prader-
Willi
syndrome
,
the
commonest
obesity
syndrome
due
to
loss
of
imprinted
genes
on
15
q
11
-
13
.
We
also
discuss
highlights
of
other
genetic
obesity
syndromes
including
Alstrom
syndrome
,
Cohen
syndrome
,
Albright
's
hereditary
osteodystrophy
(
pseudohypoparathyroidism
)
,
Carpenter
syndrome
,
MOMO
syndrome
,
Rubinstein-
Taybi
syndrome
,
cases
with
deletions
of
6
q
16
,
1
p
36
,
2
q
37
and
9
q
34
,
maternal
uniparental
disomy
of
chromosome
14
,
fragile
X
syndrome
and
Börjeson-
Forssman-
Lehman
syndrome
.
Diseases
Validation
Diseases presenting
"obesity"
symptom
acute rheumatic fever
adrenal incidentaloma
aniridia
aromatase deficiency
carcinoma of the gallbladder
cohen syndrome
congenital adrenal hyperplasia
cushing syndrome
cystinuria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
heparin-induced thrombocytopenia
kabuki syndrome
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
sneddon syndrome
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated