Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Genotype-phenotype correlations in disorders of peroxisome biogenesis.
[neonatal adrenoleukodystrophy]
Genetically
determined
human
peroxisomal
disorders
are
subdivided
into
two
major
categories
:
disorders
of
peroxisome
biogenesis
(
PBD
)
,
in
which
the
organelle
is
not
formed
normally
,
and
those
that
involve
a
single
peroxisomal
enzyme
.
Twelve
PBD
have
been
identified
,
and
the
molecular
defects
have
been
defined
in
10
.
All
involve
defects
in
the
import
of
proteins
into
the
organelle
.
Factors
required
for
this
import
are
now
referred
to
as
peroxins
(
PEX
)
and
form
the
basis
of
a
new
and
preferred
classification
system
.
The
PBD
are
associated
with
four
clinical
phenotypes
,
named
before
their
association
with
the
organelle
was
recognized
:
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
(
NALD
)
,
infantile
Refsum
disease
(
IRD
)
,
and
rhizomelic
chondrodysplasia
punctata
(
RCDP
)
.
The
first
three
are
associated
with
9
of
the
10
PEX
defects
that
have
been
defined
so
far
,
and
represent
a
clinical
continuum
with
variant
severity
,
with
ZS
the
most
severe
,
NALD
intermediate
,
and
IRD
the
least
severe
.
RCDP
is
associated
with
PEX
7
.
Genotype-phenotype
correlations
are
complicated
by
the
fact
that
the
clinical
manifestations
of
the
ZS
-
NALD
-
IRD
continuum
can
be
mimicked
by
disorders
that
affect
single
enzymes
of
peroxisomal
fatty
acid
oxidation
,
and
PEX
7
by
disorders
of
plasmalogen
synthesis
enzymes
.
Furthermore
,
clinical
manifestations
of
each
of
the
PEX
disorders
may
vary
.
Phenotypic
expression
varies
with
the
nature
of
the
mutation
,
the
milder
phenotypes
being
associated
with
mutations
that
do
not
abolish
function
completely
,
or
with
mosaicism
.
Definition
of
the
molecular
defects
is
of
great
value
for
genetic
counseling
and
may
be
of
aid
in
establishing
prognosis
.
Diseases
Validation
Diseases presenting
"named before their association with the organelle was recognized"
symptom
neonatal adrenoleukodystrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom