Rare Diseases Symptoms Automatic Extraction
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KDM6A point mutations cause Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
is
a
rare
congenital
anomaly
syndrome
characterized
by
a
unique
facial
appearance
,
growth
retardation
,
skeletal
abnormalities
,
and
intellectual
disability
.
In
2010
,
MLL
2
was
identified
as
a
causative
gene
.
On
the
basis
of
published
reports
,
55
-
80
%
of
KS
cases
can
be
explained
by
MLL
2
abnormalities
.
Recently
,
de
novo
deletion
of
KDM
6
A
has
been
reported
in
three
KS
patients
,
but
point
mutations
of
KDM
6
A
have
never
been
found
.
In
this
study
,
we
investigated
KDM
6
A
in
32
KS
patients
without
an
MLL
2
mutation
.
We
identified
two
nonsense
mutations
and
one
3
-
bp
deletion
of
KDM
6
A
in
three
KS
cases
.
This
is
the
first
report
of
KDM
6
A
point
mutations
associated
with
KS
.
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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