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Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).
[kabuki syndrome]
We
describe
seven
patients
with
KDM
6
A
(
located
on
Xp
11
.
3
and
encodes
UTX
)
mutations
,
a
rare
cause
of
Kabuki
syndrome
(
KS
2
,
MIM
300867
)
and
report
,
for
the
first
time
,
germ-line
missense
and
splice-site
mutations
in
the
gene
.
We
demonstrate
that
less
than
5
%
cases
of
Kabuki
syndrome
are
due
to
KDM
6
A
mutations
.
Our
work
shows
that
similar
to
the
commoner
Type
1
Kabuki
syndrome
(
KS
1
,
MIM
147920
)
caused
by
KMT
2
D
(
previously
called
MLL
2
)
mutations
,
KS
2
patients
are
characterized
by
hypotonia
and
feeding
difficulties
during
infancy
and
poor
postnatal
growth
and
short
stature
.
Unlike
KS
1
,
developmental
delay
and
learning
disability
are
generally
moderate
-
severe
in
boys
but
mild
-
moderate
in
girls
with
KS
2
.
Some
girls
may
have
a
normal
developmental
profile
.
Speech
and
cognition
tend
to
be
more
severely
affected
than
motor
development
.
Increased
susceptibility
to
infections
,
join
laxity
,
heart
,
dental
and
ophthalmological
anomalies
are
common
.
Hypoglycaemia
is
more
common
in
KS
2
than
in
KS
1
.
Facial
dysmorphism
with
KDM
6
A
mutations
is
variable
and
diagnosis
on
facial
gestalt
alone
may
be
difficult
in
some
patients
.
Hypertrichosis
,
long
halluces
and
large
central
incisors
may
be
useful
clues
to
an
underlying
KDM
6
A
mutation
in
some
patients
.
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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