Rare Diseases Symptoms Automatic Extraction
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[Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].
[dentinogenesis imperfecta]
Patients
with
osteogenesis
imperfecta
(
OI
)
represent
various
degrees
of
bone
fragility
and
accompany
many
clinical
manifestations
such
as
dentinogenesis
imperfecta
,
blue
sclera
,
growth
disturbance
,
hearing
impairment
and
so
on
.
Although
most
OI
is
caused
by
genetic
mutation
of
type
I
collagen
gene
;
COL
1
A
1
and
COL
1
A
2
,
other
genes
that
concerns
post-translational
modification
of
type
I
collagen
molecules
such
as
CRTAP
,
LEPRE
1
,
PPIB
,
SERPINH
1
and
FKBP
10
were
found
to
be
the
causative
candidates
of
OI
.
On
the
other
hand
,
genetic
causes
of
type
V
and
type
VI
OI
are
not
identified
.
For
the
classification
of
OI
,
Sillence
's
classification
had
been
used
and
had
been
repeatedly
revised
at
the
times
of
identification
of
new
causative
genes
of
OI
.
Diseases
Validation
Diseases presenting
"hearing impairment"
symptom
22q11.2 deletion syndrome
achondroplasia
benign recurrent intrahepatic cholestasis
canavan disease
congenital diaphragmatic hernia
dentinogenesis imperfecta
hirschsprung disease
kabuki syndrome
kallmann syndrome
monosomy 21
oligodontia
pendred syndrome
zellweger syndrome
This symptom has already been validated
