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Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21.
[dentin dysplasia]
Dentinogenesis
imperfecta
(
DGI
)
and
dentin
dysplasia
(
DD
)
are
allelic
disorders
that
primarily
affect
the
formation
of
tooth
dentin
.
Both
conditions
are
autosomal-dominant
and
can
be
caused
by
mutations
in
the
dentin
sialophosphoprotein
gene
(
DSPP
,
4
q
21
.
3
)
.
We
recruited
23
members
of
a
four
-generation
kindred
,
including
ten
persons
with
dentin
defects
,
and
tested
the
hypothesis
that
these
defects
are
linked
to
DSPP
.
The
primary
dentition
showed
amber
discoloration
,
pulp
obliteration
,
and
severe
attrition
.
The
secondary
dentition
showed
either
pulp
obliteration
with
bulbous
crowns
and
gray
discoloration
or
thistle-tube
pulp
configurations
,
normal
crowns
,
and
mild
gray
discoloration
.
Haplotype
analyses
showed
no
recombination
between
three
4
q
21
-
q
24
markers
and
the
disease
locus
.
Mutational
analyses
identified
no
coding
or
intron
junction
sequence
variations
associated
with
affection
status
in
DMP
1
,
MEPE
,
or
the
DSP
portion
of
DSPP
.
The
defects
in
the
permanent
dentition
were
typically
mild
and
consistent
with
a
diagnosis
of
DD-
II
,
but
some
dental
features
associated
with
DGI
-
II
were
also
present
.
We
conclude
that
DD-
II
and
DGI
-
II
are
milder
and
more
severe
forms
,
respectively
,
of
the
same
disease
.
Diseases
Validation
Diseases presenting
"severe forms"
symptom
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
omenn syndrome
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
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