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CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
[familial hypocalciuric hypercalcemia]
Familial
hypocalciuric
hypercalcemia
(
FHH
)
is
caused
by
heterozygous
loss
-of-function
mutations
in
the
calcium-sensing
receptor
(
CASR
)
,
in
which
the
lifelong
hypercalcemia
is
generally
asymptomatic
.
Homozygous
loss
-of-function
CASR
mutations
manifest
as
neonatal
severe
hyperparathyroidism
(
NSHPT
)
,
a
rare
disorder
characterized
by
extreme
hypercalcemia
and
the
bony
changes
of
hyperparathyroidism
,
which
occur
in
infancy
.
Activating
mutations
in
the
CASR
gene
have
been
identified
in
several
families
with
autosomal
dominant
hypocalcemia
(
ADH
)
,
autosomal
dominant
hypoparathyroidism
,
or
hypocalcemic
hypercalciuria
.
Individuals
with
ADH
may
have
mild
hypocalcemia
and
relatively
few
symptoms
.
However
,
in
some
cases
seizures
can
occur
,
especially
in
younger
patients
,
and
these
often
happen
during
febrile
episodes
due
to
intercurrent
infection
.
Thus
far
,
112
naturally-occurring
mutations
in
the
human
CASR
gene
have
been
reported
,
of
which
80
are
unique
and
32
are
recurrent
.
To
better
understand
the
mutations
causing
defects
in
the
CASR
gene
and
to
define
specific
regions
relevant
for
ligand-receptor
interaction
and
other
receptor
functions
,
the
data
on
mutations
were
collected
and
the
information
was
centralized
in
the
CASRdb
(
www
.
casrdb
.
mcgill
.
ca
)
,
which
is
easily
and
quickly
accessible
by
search
engines
for
retrieval
of
specific
information
.
The
information
can
be
searched
by
mutation
,
genotype-phenotype
,
clinical
data
,
in
vitro
analyses
,
and
authors
of
publications
describing
the
mutations
.
CASRdb
is
regularly
updated
for
new
mutations
and
it
also
provides
a
mutation
submission
form
to
ensure
up-
to
-date
information
.
The
home
page
of
this
database
provides
links
to
different
web
pages
that
are
relevant
to
the
CASR
,
as
well
as
disease
clinical
pages
,
sequence
of
the
CASR
gene
exons
,
and
position
of
mutations
in
the
CASR
.
The
CASRdb
will
help
researchers
to
better
understand
and
analyze
the
mutations
,
and
aid
in
structure-function
analyses
.
Diseases
Validation
Diseases presenting
"mutations in the casr"
symptom
familial hypocalciuric hypercalcemia
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