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Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.
[cystinuria]
Approximately
20
%
of
Beckwith-
Wiedemann
syndrome
(
BWS
)
cases
are
caused
by
mosaic
paternal
uniparental
disomy
of
chromosome
1
1
(
pUPD
11
)
.
Although
pUPD
11
is
usually
limited
to
the
short
arm
of
chromosome
11
,
a
small
minority
of
BWS
cases
show
genome-
wide
mosaic
pUPD
(
GWpUPD
)
.
These
patients
show
variable
clinical
features
depending
on
mosaic
ratio
,
imprinting
status
of
other
chromosomes
,
and
paternally
inherited
recessive
mutations
.
To
date
,
there
have
been
no
reports
of
a
mosaic
GWpUPD
patient
with
an
autosomal
recessive
disease
caused
by
a
paternally
inherited
recessive
mutation
.
Here
,
we
describe
a
patient
concurrently
showing
the
clinical
features
of
BWS
and
autosomal
recessive
cystinuria
.
Genetic
analyses
revealed
that
the
patient
has
mosaic
GWpUPD
and
an
inherited
paternal
homozygous
mutation
in
SLC
7
A
9
.
This
is
the
first
report
indicating
that
a
paternally
inherited
recessive
mutation
can
cause
an
autosomal
recessive
disease
in
cases
of
GWpUPD
mosaicism
.
Investigation
into
recessive
mutations
and
the
dysregulation
of
imprinting
domains
is
critical
in
understanding
precise
clinical
conditions
of
patients
with
mosaic
GWpUPD
.
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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