Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
[canavan disease]
Canavan
disease
(
CD
)
is
an
autosomal
recessive
inherited
disorder
characterized
by
spongy
degeneration
of
the
brain
.
The
deficiency
of
aspartoacylase
(
ASPA
)
,
resulting
in
the
accumulation
of
N-
acetyl
aspartic
acid
(
NAA
)
in
the
brain
,
plays
an
important
role
in
the
pathogenesis
of
the
disease
.
The
cardinal
features
of
this
neurodegenerative
disease
are
macrocephaly
,
mental
retardation
,
and
hypotonia
.
Magnetic
resonance
imaging
(
MRI
)
of
the
brain
generally
shows
diffuse
white
matter
degeneration
and
also
elevated
excretion
of
urinary
NAA
is
usually
seen
.
A
large
number
of
mutations
were
identified
to
date
.
We
report
here
a
9
months
old
girl
with
Canavan
Disease
and
a
homozygous
c
.
79
G
>
A
mutation
in
the
ASPA
gene
,
detected
for
the
first
time
in
Turkish
population
.
Diseases
Validation
Diseases presenting
"large number"
symptom
acute rheumatic fever
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
canavan disease
coats disease
cowden syndrome
dedifferentiated liposarcoma
dracunculiasis
epidermolysis bullosa simplex
fabry disease
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
kindler syndrome
legionellosis
malignant atrophic papulosis
neuralgic amyotrophy
phenylketonuria
pleomorphic liposarcoma
primary effusion lymphoma
scrub typhus
severe combined immunodeficiency
triple a syndrome
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom