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Increased frequency of Mediterranean fever gene variants in multiple myeloma.
[familial mediterranean fever]
High
frequencies
of
inherited
variants
in
the
Mediterranean
fever
(
MEFV
)
gene
have
been
identified
in
patients
with
multiple
myeloma
(
MM
)
.
The
sample
size
of
the
present
pilot
study
was
small
,
therefore
,
the
actual
frequency
of
inherited
variants
in
the
MEFV
gene
could
be
investigated
in
patients
with
MM
.
Twenty
-
eight
patients
with
MM
and
65
healthy
controls
were
included
in
the
study
.
Six
heterozygous
and
one
homozygous
(
E
148
Q
/
E
148
Q
)
variant
was
identified
in
patients
with
MM
.
None
of
the
patients
had
a
family
history
compatible
with
familial
Mediterranean
fever
.
In
the
healthy
control
group
,
11
heterozygous
variants
were
identified
.
The
difference
in
the
overall
frequency
of
the
inherited
variants
in
the
MEFV
gene
between
the
MM
patients
and
the
controls
was
statistically
significant
(
χ
(
2
)
=
4
.
905
;
P
=
0
.
027
)
.
In
conclusion
,
a
high
frequency
of
inherited
variants
in
the
MEFV
gene
was
identified
in
patients
with
MM
.
Based
on
the
current
data
,
it
is
hypothesized
that
the
MEFV
gene
is
a
cancer
susceptibility
gene
.
Additional
evidence
,
such
as
familial
aggregation
,
monozygotic
versus
dizygotic
twin
concordance
,
and
tumors
in
genetically
engineered
model
organisms
,
is
required
in
order
to
support
this
hypothesis
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated