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A random Abstract
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Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association.
[coats disease]
We
describe
the
novel
association
in
a
girl
of
nephrotic
syndrome
due
to
focal
segmental
glomerulosclerosis
,
bilateral
sensorineural
deafness
,
basal
ganglia
calcification
,
bilateral
retinopathy
similar
to
that
seen
in
Coats
'
disease
,
with
de
novo
duplication
of
a
subtelomeric
region
of
chromosome
4
q
35
.
The
chromosomal
duplication
was
identified
during
investigation
of
a
possible
association
with
features
of
fascio-scapulo-
humeral
dystrophy
(
FSHD
)
.
This
duplication
has
not
previously
been
reported
with
FSGS
and
adds
to
the
expanding
number
of
genetic
associations
with
steroid-resistant
nephrotic
syndrome
.
Diseases
Validation
Diseases presenting
"nephrotic syndrome"
symptom
aniridia
cholangiocarcinoma
coats disease
cystinuria
familial mediterranean fever
hirschsprung disease
primary hyperoxaluria type 1
scrub typhus
waldenström macroglobulinemia
This symptom has already been validated
