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SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
[holt-oram syndrome]
Okihiro
/
Duane-
radial
ray
syndrome
(
DRRS
)
is
an
autosomal
dominant
condition
characterized
by
radial
ray
defects
and
Duane
anomaly
(
a
form
of
strabismus
)
.
Other
abnormalities
reported
in
this
condition
are
anal
,
renal
,
cardiac
,
ear
,
and
foot
malformations
,
and
hearing
loss
.
The
disease
is
the
result
of
a
mutation
in
the
SALL
4
gene
,
a
human
gene
related
to
the
developmental
regulator
spalt
(
sal
)
of
Drosophila
melanogaster
.
SALL
4
mutations
may
also
cause
acro-
renal
-
ocular
syndrome
(
AROS
)
,
which
differs
from
DRRS
by
the
presence
of
structural
eye
anomalies
,
and
phenotypes
similar
to
thalidomide
embryopathy
and
Holt-
Oram
syndrome
(
HOS
)
.
The
SALL
4
gene
product
is
a
zinc
finger
protein
that
is
thought
to
act
as
a
transcription
factor
.
It
contains
three
highly
conserved
C
2
H
2
double
zinc
finger
domains
,
which
are
evenly
distributed
.
A
single
C
2
H
2
motif
is
attached
to
the
second
domain
,
and
at
the
amino
terminus
SALL
4
contains
a
C
2
HC
motif
.
Seventeen
of
the
22
SALL
4
mutations
known
to
date
(
five
of
which
are
presented
here
for
the
first
time
)
are
located
in
exon
2
,
and
five
are
located
in
exon
3
.
These
are
nonsense
mutations
,
short
duplications
,
and
short
deletions
.
All
of
the
mutations
lead
to
preterminal
stop
codons
and
are
thought
to
cause
the
phenotype
via
haploinsufficiency
.
This
assumption
is
supported
by
the
detection
of
six
larger
deletions
involving
the
whole
gene
or
single
exons
.
This
article
summarizes
the
current
knowledge
about
SALL
4
defects
and
associated
syndromes
,
and
describes
the
clinical
distinctions
with
similar
phenotypes
caused
by
other
gene
defects
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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