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Proteus syndrome review: molecular, clinical, and pathologic features.
[proteus syndrome]
Proteus
syndrome
is
caused
by
an
activating
AKT
1
mutation
(
c
.
49
G
>
A
,
p
.
Glu
17
Lys
)
.
Many
variable
features
are
possible
in
this
mosaic
disorder
,
including
:
(
i
)
disproportionate
,
asymmetric
,
and
distorting
overgrowth
;
(
ii
)
bone
abnormalities
different
from
those
observed
in
other
disorders
;
(
iii
)
a
characteristic
cerebriform
connective
tissue
nevus
made
up
of
highly
collagenized
connective
tissue
;
(
iv
)
epidermal
nevi
in
early
life
,
consisting
of
acanthosis
and
hyperkeratosis
;
(
v
)
vascular
malformations
of
the
capillary
,
venous
,
or
lymphatic
types
;
(
vi
)
dysregulated
adipose
tissue
including
lipomas
,
lipohypoplasia
,
fatty
overgrowth
,
and
localized
fat
deposits
;
(
vii
)
other
unusual
features
,
including
bullous
lung
alterations
;
specific
neoplasms
;
a
facial
phenotype
associated
with
intellectual
disability
and
/
or
seizures
,
and
/
or
brain
malformations
;
and
(
viii
)
deep
vein
thrombosis
,
resulting
in
premature
death
.
Concluding
remarks
address
diagnostic
criteria
,
natural
history
,
management
,
psychosocial
issues
,
and
differential
diagnosis
.
Diseases
Validation
Diseases presenting
"intellectual disability"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
aniridia
child syndrome
cohen syndrome
cowden syndrome
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
monosomy 21
oculocutaneous albinism
oligodontia
phenylketonuria
proteus syndrome
triple a syndrome
wolf-hirschhorn syndrome
This symptom has already been validated