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Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene.
[kallmann syndrome]
The
Kallmann
syndrome
is
characterised
by
the
association
of
hypogonadotropic
hypogonadism
and
hypo
/
anosmia
.
It
represents
a
phenotypically
and
genotypically
heterogeneous
clinical
entity
,
with
six
genes
identified
so
far
in
the
literature-
KAL
1
,
FGFR
1
,
PROKR
2
,
PROK
2
,
CHD
7
and
FGF
8
.
Mutations
in
the
FGFR
1
gene
can
be
found
in
approximately
10
%
of
the
patients
.
The
authors
present
the
case
of
a
female
adolescent
with
hypogonadotropic
hypogonadism
and
impaired
olfactory
acuity
in
the
presence
of
hypoplasia
of
the
nasal
sulcus
and
agenesis
of
the
olfactory
bulbs
.
The
molecular
analysis
of
the
fibroblast
growth
factor
receptor
1
identified
a
heterozygous
mutation
c
.
1377
_
78
insA
(
p
.
V
460
SfsX
3
)
in
exon
10
of
FGFR
1
gene
.
This
mutation
has
not
yet
been
reported
in
the
literature
.
A
theoretical
review
of
clinical
features
and
therapeutic
approach
of
this
syndrome
is
also
presented
.
Diseases
Validation
Diseases presenting
"growth factor receptor"
symptom
achondroplasia
aromatase deficiency
cholangiocarcinoma
dedifferentiated liposarcoma
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
kallmann syndrome
lymphangioleiomyomatosis
oral submucous fibrosis
proteus syndrome
severe combined immunodeficiency
wiskott-aldrich syndrome
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