Rare Diseases Symptoms Automatic Extraction
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Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
[neuralgic amyotrophy]
Hereditary
neuralgic
amyotrophy
(
HNA
)
is
an
autosomal
dominant
recurrent
neuropathy
affecting
the
brachial
plexus
.
HNA
is
triggered
by
environmental
factors
such
as
infection
or
parturition
.
We
report
three
mutations
in
the
gene
septin
9
(
SEPT
9
)
in
six
families
with
HNA
linked
to
chromosome
17
q
25
.
HNA
is
the
first
monogenetic
disease
caused
by
mutations
in
a
gene
of
the
septin
family
.
Septins
are
implicated
in
formation
of
the
cytoskeleton
,
cell
division
and
tumorigenesis
.
Diseases
Validation
Diseases presenting
"neuropathy"
symptom
adrenomyeloneuropathy
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
fabry disease
focal myositis
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
inclusion body myositis
krabbe disease
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
neuralgic amyotrophy
oculocutaneous albinism
pendred syndrome
phenylketonuria
pyomyositis
pyruvate dehydrogenase deficiency
sneddon syndrome
thoracic outlet syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated