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Mutation in myosin heavy chain 6 causes atrial septal defect.
[holt-oram syndrome]
Atrial
septal
defect
is
one
of
the
most
common
forms
of
congenital
heart
malformation
.
We
identified
a
new
locus
linked
with
atrial
septal
defect
on
chromosome
14
q
12
in
a
large
family
with
dominantly
inherited
atrial
septal
defect
.
The
underlying
mutation
is
a
missense
substitution
,
I
820
N
,
in
alpha-myosin
heavy
chain
(
MYH
6
)
,
a
structural
protein
expressed
at
high
levels
in
the
developing
atria
,
which
affects
the
binding
of
the
heavy
chain
to
its
regulatory
light
chain
.
The
cardiac
transcription
factor
TBX
5
strongly
regulates
expression
of
MYH
6
,
but
mutant
forms
of
TBX
5
,
which
cause
Holt-
Oram
syndrome
,
do
not
.
Morpholino
knock-down
of
expression
of
the
chick
MYH
6
homolog
eliminates
the
formation
of
the
atrial
septum
without
overtly
affecting
atrial
chamber
formation
.
These
data
provide
evidence
for
a
link
between
a
transcription
factor
,
a
structural
protein
and
congenital
heart
disease
.
Diseases
Validation
Diseases presenting
"heart disease"
symptom
22q11.2 deletion syndrome
achondroplasia
acute rheumatic fever
adrenal incidentaloma
child syndrome
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
dentinogenesis imperfecta
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
omenn syndrome
phenylketonuria
sneddon syndrome
systemic capillary leak syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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