Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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CRB1: one gene, many phenotypes.
[coats disease]
Mutations
in
the
CRB
1
gene
cause
severe
retinal
degenerations
,
which
may
present
as
Leber
congenital
amaurosis
,
early
onset
retinal
dystrophy
,
retinitis
pigmentosa
,
or
cone-rod
dystrophy
.
Some
clinical
features
should
alert
the
ophthalmologist
to
the
possibility
of
CRB
1
disease
.
These
features
are
nummular
pigmentation
of
the
retina
,
atrophic
macula
,
retinal
degeneration
associated
with
Coats
disease
,
and
a
unique
form
of
retinitis
pigmentosa
named
para-arteriolar
preservation
of
the
retinal
pigment
epithelium
(
PPRPE
)
.
Retinal
degenerations
associated
with
nanophthalmos
and
hyperopia
,
or
with
keratoconus
,
can
serve
as
further
clinical
cues
to
mutations
in
CRB
1
.
Despite
this
,
no
clear
genotype-phenotype
relationship
has
been
established
in
CRB
1
disease
.
In
CRB
1
-
disease
,
as
in
other
inherited
retinal
degenerations
(
IRDs
)
,
it
is
essential
to
diagnose
the
specific
disease-causing
gene
for
the
disease
as
genetic
therapy
has
progressed
considerably
in
the
last
few
years
and
might
be
applicable
.
Diseases
Validation
Diseases presenting
"early onset"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
coats disease
cohen syndrome
congenital diaphragmatic hernia
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
fabry disease
familial mediterranean fever
homocystinuria without methylmalonic aciduria
inclusion body myositis
kindler syndrome
krabbe disease
papillon-lefèvre syndrome
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
triple a syndrome
von hippel-lindau disease
werner syndrome
wolf-hirschhorn syndrome
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