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Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases.
[krabbe disease]
Leukodystrophies
(
LD
)
and
lysosomal
storage
disorders
(
LSD
)
have
generated
increased
interest
recently
as
targets
for
newborn
screening
programs
.
Accurate
epidemiological
benchmarks
are
needed
in
the
U
.
S
.
Age-
specific
mortality
rates
were
estimated
for
Krabbe
disease
(
KD
)
and
nine
related
disorders
.
U
.
S
.
mortality
records
with
E
75
.
2
cause
of
death
code
during
1999
-
2004
were
collected
from
11
open
record
states
.
All
E
75
.
2
deaths
in
the
United
States
were
distributed
into
specific
disease
type
based
on
proportions
observed
in
these
states
.
Yearly
population
sizes
were
obtained
from
the
CDC
and
averaged
.
Mortality
rates
(
per
million
individuals
per
year
)
by
age
group
for
the
specific
diseases
were
(
for
<
5
or
≥
5
years
)
:
Pelizaeus-
Merzbacher
(
0
.
037
/
0
.
033
)
;
sudanophilic
leukodystrophy
(
SLD
)
(
0
.
037
/
0
.
004
)
;
Canavan
(
0
.
037
/
0
.
011
)
,
Alexander
(
0
.
147
/
0
.
022
)
;
Krabbe
(
0
.
994
/
0
.
007
)
;
metachromatic
leukodystrophy
(
0
.
331
/
0
.
135
)
;
Fabry
(
0
.
000
/
0
.
124
)
;
Gaucher
(
0
.
221
/
0
.
073
)
;
Niemann-
Pick
(
NP
)
(
0
.
442
/
0
.
088
)
;
multiple
sulfatase
(
0
.
000
/
0
.
004
)
.
This
is
the
first
report
of
mortality
rates
for
the
LD
/
LSD
diseases
in
the
U
.
S
.
Approximated
birth
prevalence
rate
for
the
early
infantile
Krabbe
phenotype
(
onset
0
-
6
months
)
was
based
on
the
<
5
year
old
mortality
rate
of
one
early
infantile
case
per
244
,
000
births
,
which
matches
the
1
in
250
,
000
observed
in
the
NYS
newborn
screening
program
as
of
2011
.
It
should
be
noted
however
that
the
NYS
calculation
refers
only
to
the
early
infantile
phenotype
and
does
not
include
the
majority
of
babies
identified
in
the
program
with
low
GALC
and
two
mutations
who
have
remained
clinically
normal
.
It
is
presumed
that
most
,
if
not
all
,
will
develop
later
onset
forms
of
the
disease
,
but
this
is
by
no
means
certain
.
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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