Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Hypoglycemia in Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
is
a
congenital
malformation
disorder
with
a
spectrum
of
clinical
manifestations
involving
different
organs
.
Until
the
identification
of
MLL
2
gene
mutation
in
2010
,
the
diagnosis
was
made
only
clinically
by
the
characteristic
facial
features
with
other
common
and
uncommon
features
.
Hypoglycemia
,
although
an
uncommon
feature
in
KS
,
is
very
important
to
be
recognized
,
as
early
diagnosis
and
appropriate
management
will
reduce
further
long
-term
neurologic
morbidity
in
these
patients
.
We
report
on
four
patients
with
KS
presenting
with
persistent
hypoglycemia
.
Hyperinsulinemic
hypoglycemia
was
the
cause
of
hypoglycemia
in
two
out
of
four
patients
and
one
patient
had
growth
hormone
deficiency
.
The
mechanism
of
the
hypoglycemia
in
one
patient
is
still
unclear
.
Three
out
of
these
four
patients
were
found
to
have
mutation
in
the
MLL
2
gene
.
Our
observations
suggest
that
patients
with
KS
may
have
hypoglycemia
due
to
different
mechanisms
and
that
MLL
2
gene
may
have
a
role
in
glucose
physiology
.
Diseases
Validation
Diseases presenting
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom