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PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.
[neonatal adrenoleukodystrophy]
Diseases
of
the
Zellweger
spectrum
represent
a
major
subgroup
of
the
peroxisome
biogenesis
disorders
,
a
group
of
autosomal-recessive
diseases
that
are
characterized
by
widespread
tissue
pathology
,
including
neurodegeneration
.
The
Zellweger
spectrum
represents
a
clinical
continuum
,
with
Zellweger
syndrome
(
ZS
)
having
the
most
severe
phenotype
,
and
neonatal
adrenoleukodystrophy
(
NALD
)
and
infantile
Refsum
disease
(
IRD
)
having
progressively
milder
phenotypes
.
Mutations
in
the
PEX
1
gene
,
which
encodes
a
143
-
kDa
AAA
ATPase
protein
required
for
peroxisome
biogenesis
,
are
the
most
common
cause
of
the
Zellweger
spectrum
diseases
.
The
PEX
1
mutations
identified
to
date
comprise
insertions
,
deletions
,
nonsense
,
missense
,
and
splice
site
mutations
.
Mutations
that
produce
premature
truncation
codons
(
PTCs
)
are
distributed
throughout
the
PEX
1
gene
,
whereas
the
majority
of
missense
mutations
segregate
with
the
two
essential
AAA
domains
of
the
PEX
1
protein
.
Severity
at
the
two
ends
of
the
Zellweger
spectrum
correlates
broadly
with
mutation
type
and
impact
(
i
.
e
.
,
the
severe
ZS
correlates
with
PTCs
on
both
alleles
,
and
the
milder
phenotypes
correlate
with
missense
mutations
)
,
but
exceptions
to
these
general
correlations
exist
.
This
article
provides
an
overview
of
the
currently
known
PEX
1
mutations
,
and
includes
,
when
necessary
,
revised
mutation
nomenclature
and
genotype-phenotype
correlations
that
may
be
useful
for
clinical
diagnosis
.
Diseases
Validation
Diseases presenting
"and includes"
symptom
neonatal adrenoleukodystrophy
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