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Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.
[kallmann syndrome]
Congenital
hypogonadotropic
hypogonadism
(
HH
)
,
a
rare
disorder
characterized
by
absent
,
partial
,
or
delayed
puberty
,
can
be
caused
by
the
lack
or
deficient
number
of
hypothalamic
gonadotropin-releasing
hormone
(
GnRH
)
neurons
.
SEMA
3
A
was
recently
implicated
in
the
etiology
of
the
disorder
,
and
Sema
7
A
-
deficient
mice
have
a
reduced
number
of
GnRH
neurons
in
their
brains
.
S
EMA
3
A
and
SEMA
7
A
were
screened
by
Sanger
sequencing
in
altogether
50
Finnish
HH
patients
(
34
with
Kallmann
syndrome
(
KS
;
HH
with
hyposmia
/
anosmia
)
and
16
with
normosmic
HH
(
nHH
)
)
.
In
20
patients
,
mutation
(
s
)
had
already
been
found
in
genes
known
to
be
implicated
in
congenital
HH
.
Three
heterozygous
variants
(
c
.
458
A
>
G
(
p
.
Asn
153
Ser
)
,
c
.
1253
A
>
G
(
p
.
Asn
418
S
er
)
,
and
c
.
1303
G
>
A
(
p
.
Val
435
Ile
)
)
were
found
in
SEMA
3
A
in
three
KS
patients
,
two
of
which
also
had
a
mutation
in
FGFR
1
.
Two
rare
heterozygous
variants
(
c
.
442
C
>
T
(
p
.
Arg
148
Trp
)
and
c
.
1421
G
>
A
(
p
.
Arg
474
Gln
)
)
in
SEMA
7
A
were
found
in
one
male
nHH
patient
with
a
previously
identified
KISS
1
R
nonsense
variant
and
one
male
KS
patient
with
a
previously
identified
mutation
in
KAL
1
,
respectively
.
Our
results
suggest
that
heterozygous
missense
variants
in
SEMA
3
A
and
SEMA
7
A
may
modify
the
phenotype
of
KS
but
most
likely
are
not
alone
sufficient
to
cause
the
disorder
.
Diseases
Validation
Diseases presenting
"respectively"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
kallmann syndrome
lamellar ichthyosis
liposarcoma
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
triple a syndrome
von hippel-lindau disease
well-differentiated liposarcoma
wolf-hirschhorn syndrome
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