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Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.
[dentinogenesis imperfecta]
Mutations
in
the
FKBP
10
gene
were
first
described
in
patients
with
Osteogenesis
imperfecta
type
III
.
Two
follow
up
reports
found
FKBP
10
mutations
to
be
associated
with
Bruck
syndrome
type
1
,
a
rare
disorder
characterized
by
congenital
contractures
and
bone
fragility
.
This
raised
the
question
if
the
patients
in
the
first
report
indeed
had
isolated
Osteogenesis
imperfecta
or
if
Bruck
syndrome
would
have
been
the
better
diagnosis
.
The
patients
described
here
are
affected
by
severe
autosomal
recessive
Osteogenesis
imperfecta
without
contractures
.
Homozygosity
mapping
identified
FKBP
10
as
a
candidate
gene
,
and
sequencing
revealed
a
base
pair
exchange
that
causes
a
C-
terminal
premature
stop
codon
in
this
gene
.
Our
study
demonstrates
that
FKBP
10
mutations
not
only
cause
Bruck
syndrome
or
Osteogenesis
imperfecta
type
III
but
can
result
in
a
severe
type
of
isolated
Osteogenesis
imperfecta
type
IV
with
prenatal
onset
.
Furthermore
,
it
adds
dentinogenesis
imperfecta
to
the
spectrum
of
clinical
symptoms
associated
with
FKBP
10
mutations
.
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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