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Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.
[neonatal adrenoleukodystrophy]
Peroxisome
biogenesis
disorders
(
PBDs
)
are
fatal
autosomal
recessive
diseases
and
are
caused
by
impaired
peroxisome
biogenesis
.
PBDs
are
genetically
heterogeneous
and
classified
into
13
complementation
groups
(
CGs
)
.
CG
8
is
one
of
the
most
common
groups
and
has
three
clinical
phenotypes
,
including
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
,
and
infantile
Refsum
disease
(
IRD
)
.
We
recently
isolated
PEX
26
as
the
pathogenic
gene
for
PBD
of
CG
8
.
Pex
26
p
functions
in
recruiting
to
peroxisomes
the
complexes
of
the
AAA
ATPase
peroxins
,
Pex
1
p
and
Pex
6
p
.
In
the
present
work
,
we
identified
four
distinct
mutations
in
PEX
26
from
five
patients
of
CG
8
PBD
including
2
with
ZS
and
3
with
IRD
,
in
addition
to
7
mutant
alleles
in
8
patients
in
the
first
report
describing
the
pathogenic
PEX
26
gene
for
CG
8
PBD
.
Phenotype-genotype
analyses
revealed
that
temperature-sensitive
(
ts
)
peroxisome
assembly
gave
rise
to
a
milder
IRD
in
contrast
to
the
non-ts
phenotype
of
the
cells
from
ZS
patients
.
Furthermore
,
we
present
several
lines
of
evidence
that
show
that
the
instability
,
insufficient
binding
to
Pex
1
p
x
Pex
6
p
complexes
,
or
mislocalization
of
patient-derived
Pex
26
p
mutants
is
most
likely
responsible
for
the
CG
8
PBDs
.
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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