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Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.
[coats disease]
Norrie
disease
(
ND
)
is
caused
by
mutations
in
the
ND
pseudoglioma
(
NDP
)
gene
(
MIM
300658
)
located
at
chromosome
Xp
11
.
4
-
p
11
.
3
.
ND
is
characterized
by
abnormal
retinal
vascular
development
and
vitreoretinal
disorganization
presenting
at
birth
.
Systemic
manifestations
include
sensorineural
deafness
,
progressive
mental
disorder
,
behavioral
and
psychological
problems
,
growth
failure
,
and
seizures
.
Other
vitreoretinopathies
that
are
associated
with
NDP
gene
mutations
include
X-
linked
familial
exudative
vitreoretinopathy
,
Coats
disease
,
persistent
fetal
vasculature
,
and
retinopathy
of
prematurity
.
Phenotypic
variability
associated
with
NDP
gene
mutations
has
been
well
documented
in
affected
male
patients
.
However
,
there
are
limited
data
on
signs
in
female
carriers
,
with
mild
peripheral
retinal
abnormalities
reported
in
both
carrier
and
noncarrier
females
of
families
with
NDP
gene
mutations
.
Here
,
we
report
a
family
harboring
a
single
base-pair
deletion
,
c
.
268
delC
,
in
the
NDP
gene
causing
a
severe
ND
phenotype
in
the
male
proband
and
peripheral
retinal
vascular
abnormalities
with
dragged
maculae
similar
to
those
observed
in
familial
exudative
vitreoretinopathy
in
his
carrier
mother
.
Diseases
Validation
Diseases presenting
"c"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
coats disease
cohen syndrome
dedifferentiated liposarcoma
epidermolysis bullosa simplex
erythropoietic protoporphyria
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kallmann syndrome
oligodontia
papillon-lefèvre syndrome
phenylketonuria
pyruvate dehydrogenase deficiency
von hippel-lindau disease
x-linked adrenoleukodystrophy
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