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Hermansky-Pudlak syndrome: health care throughout life.
[oculocutaneous albinism]
Hermansky-
Pudlak
syndrome
(
HPS
)
is
a
rare
autosomal
recessive
disease
that
displays
genetic
heterogeneity
;
there
are
9
known
subtypes
.
HPS
is
characterized
by
oculocutaneous
albinism
,
a
platelet
storage
pool
deficiency
and
resultant
bleeding
diathesis
,
and
lysosomal
accumulation
of
ceroid
lipofuscin
.
Patients
with
HPS
,
specifically
those
with
the
genotypes
HPS
-
1
,
HPS
-
2
,
or
HPS
-
4
,
are
predisposed
to
interstitial
lung
disease
.
In
addition
,
some
patients
with
HPS
develop
granulomatous
colitis
.
Optimal
health
care
requires
a
thorough
knowledge
of
the
unique
health
risks
and
functional
limitations
associated
with
this
syndrome
.
Diseases
Validation
Diseases presenting
"functional limitations"
symptom
oculocutaneous albinism
trochlear dysplasia
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