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Molecular genetic and ocular findings in patients with holt-oram syndrome.
[holt-oram syndrome]
The
autosomal
dominant
Holt-
Oram
syndrome
(
HOS
)
is
characterized
by
upper
limb
and
cardiac
septal
defects
.
Mutations
of
the
TBX
5
gene
have
been
identified
as
the
underlying
gene
defect
in
HOS
.
Embryonic
expression
of
TBX
5
has
been
found
in
the
human
retina
.
This
is
the
first
report
of
ocular
findings
in
two
unrelated
families
with
mutations
in
the
TBX
5
gene
.
Six
living
persons
affected
with
HOS
and
10
unaffected
family
members
were
subjected
to
mutation
analysis
and
complete
ophthalmological
examination
,
including
electrophysiological
examinations
(
EOG
and
flash
ERG
)
.
A
heterozygous
single
base-
pain
substitution
in
exon
5
(
408
C
-
-
>
A
)
was
detected
in
all
affected
patients
.
All
examined
affected
patents
were
ophthalmological
asymptomatic
with
normal
EOG
.
A
scotopic
elongated
b
-wave
latency
was
found
in
affected
family
members
who
were
older
than
35
years
.
The
ERG
was
normal
in
the
young
patients
.
Haploinsufficiency
of
TBX
5
alters
the
dorsal-ventral
polarity
in
developing
eye
vesicles
without
amy
detected
functional
loss
in
human
.
Slight
ERG
abnormalities
later
in
life
may
be
a
result
of
changes
induced
by
the
inner
ganglion
cell
layer
in
the
inner
nuclear
layer
.
Diseases
Validation
Diseases presenting
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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