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Hypopigmentation in Hermansky-Pudlak syndrome.
[oculocutaneous albinism]
Hermansky-
Pudlak
syndrome
(
HPS
)
is
characterized
by
oculocutaneous
albinism
,
bleeding
tendency
,
and
ceroid
deposition
which
often
leads
to
death
in
midlife
.
Currently
,
nine
genes
have
been
identified
as
causative
for
HPS
in
humans
.
Hypopigmentation
is
the
prominent
feature
of
HPS
,
attributable
to
the
disrupted
biogenesis
of
melanosome
,
a
member
of
the
lysosome-related
organelle
(
LRO
)
family
.
Current
understanding
of
the
cargo
transporting
mechanisms
into
the
melanosomes
expands
our
knowledge
of
the
pathogenesis
of
hypopigmentation
in
HPS
patients
.
Diseases
Validation
Diseases presenting
"prominent feature"
symptom
aniridia
cutaneous mastocytosis
neonatal adrenoleukodystrophy
oculocutaneous albinism
werner syndrome
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