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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
"high levels"
symptom
22q11.2 deletion syndrome
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
cadasil
canavan disease
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
liposarcoma
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
scrub typhus
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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