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Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.
[familial hypocalciuric hypercalcemia]
Familial
isolated
hyperparathyroidism
(
FIHP
)
can
result
occasionally
from
the
incomplete
expression
of
a
syndromic
form
of
familial
hyperparathyroidism
(
HPT
)
,
specifically
multiple
endocrine
neoplasia
type
1
(
MEN
1
)
,
familial
hypocalciuric
hypercalcemia
,
or
the
hyperparathyroidism-jaw
tumor
syndrome
(
HPT-JT
)
.
The
cause
of
FIHP
has
not
been
identified
in
the
majority
of
families
.
We
investigated
32
families
with
FIHP
to
determine
the
frequency
of
occult
mutation
in
HRPT
2
,
the
gene
causing
HPT-JT
.
All
families
had
negative
clinical
testing
for
MEN
1
,
hypocalciuric
hypercalcemia
,
and
HPT-JT
and
negative
mutational
screening
of
MEN
1
and
CASR
,
the
gene
for
the
calcium-sensing
receptor
.
Thus
,
an
extended
effort
was
made
to
exclude
each
of
the
principal
syndromic
causes
of
FIHP
.
The
families
were
characterized
by
young
probands
(
42
+
/
-
3
yr
)
and
occasionally
unusual
parathyroid
histology
,
including
four
families
with
one
case
of
parathyroid
cancer
.
We
had
speculated
that
there
was
a
high
frequency
of
occult
mutation
in
HRPT
2
among
such
carefully
screened
kindreds
.
This
hypothesis
became
testable
with
the
recent
identification
of
that
gene
.
Among
the
32
FIHP
families
,
only
a
single
one
was
found
to
have
a
mutation
in
HRPT
2
(
679
insAG
)
;
this
mutation
predicts
premature
truncation
of
its
gene
product
,
parafibromin
,
and
thus
its
presumed
inactivation
.
Even
accounting
for
families
with
one
of
the
three
occult
syndromes
and
false
negative
biochemical
or
DNA
testing
,
these
results
indicate
that
an
unexpectedly
large
fraction
of
FIHP
has
currently
unrecognized
causes
.
Diseases
Validation
Diseases presenting
"including four families with one case of parathyroid cancer"
symptom
familial hypocalciuric hypercalcemia
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