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Prader-Willi and other syndromes associated with obesity and mental retardation.
[cohen syndrome]
Constitutional
obesity
and
mental
retardation
cooccur
in
several
multiple
congenital
anomaly
syndromes
,
including
Prader-
Willi
syndrome
,
Bardet-
Biedl
syndrome
,
Cohen
syndrome
,
Albright
hereditary
osteodystrophy
,
and
Borjeson-
Forssman-
Lehmann
syndrome
as
well
as
some
rarer
disorders
.
Although
hypothalamic
-
pituitary
axis
abnormalities
are
thought
to
be
a
possible
causative
mechanism
in
some
of
these
disorders
,
current
knowledge
is
insufficient
to
explain
the
pathophysiologic
mechanism
of
obesity
in
most
multiple
congenital
anomaly
/
mental
retardation
syndromes
.
The
chromosomal
location
of
many
of
these
syndromes
is
known
,
and
studies
are
ongoing
to
identify
the
causative
genes
.
Further
delineation
of
the
functions
of
the
underlying
genes
will
likely
be
instructive
regarding
mechanisms
of
appetite
,
satiety
,
and
obesity
in
the
general
population
.
This
review
details
current
knowledge
of
the
clinical
and
molecular
genetic
findings
of
multiple
congenital
anomaly
/
mental
retardation
syndromes
associated
with
intrinsic
obesity
in
an
effort
to
delineate
causative
mechanisms
and
genetic
abnormalities
contributing
to
obesity
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated