Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The molecular genetics of erythropoietic protoporphyria.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
a
syndrome
in
which
accumulation
of
protoporphyrin
IX
in
erythroid
cells
,
plasma
,
skin
and
liver
leads
to
acute
photosensitivity
and
,
in
about
2
%
of
patients
,
liver
disease
.
More
than
95
%
of
unrelated
patients
have
ferrochelatase
(
FECH
)
deficiency
(
MIM
177000
)
while
about
2
%
have
X-
linked
dominant
protoporphyria
(
XLDPP
)
(
MIM
300752
)
caused
by
gain-of-function
mutations
in
the
ALAS
2
gene
.
Most
FECH
-
deficient
patients
are
compound
heterozygotes
for
a
hypomorphic
allele
(
FECH
IVS
3
-
48
C
)
and
a
deleterious
FECH
mutation
that
together
lower
FECH
activity
to
around
30
%
of
normal
.
The
frequency
of
the
IVS
3
-
48
C
allele
varies
between
populations
,
ranging
from
less
than
1
%
to
45
%
.
About
4
%
of
unrelated
FECH
-
deficient
patients
are
compound
heterozygotes
or
homozygotes
for
rare
FECH
mutations
and
have
lower
enzyme
activities
.
Acquired
somatic
mutation
of
FECH
secondary
to
myeloid
disease
may
rarely
cause
EPP
.
The
risk
of
liver
disease
is
increased
in
XLDPP
and
in
FECH
-
deficient
patients
who
are
hetero-
or
homoallelic
for
rare
FECH
mutations
.
Inherited
FECH
-
deficient
EPP
is
an
autosomal
recessive
disorder
with
some
families
showing
pseudodominant
inheritance
;
the
proportion
of
such
families
being
determined
by
the
population
frequency
of
the
IVS
3
-
48
C
allele
.
Diseases
Validation
Diseases presenting
"deficient patients"
symptom
aniridia
classical phenylketonuria
congenital toxoplasmosis
erythropoietic protoporphyria
homocystinuria without methylmalonic aciduria
neonatal adrenoleukodystrophy
omenn syndrome
phenylketonuria
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom