Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Phenotype characterization and sequence analysis of BMP2 and BMP4 variants in two Mexican families with oligodontia.
[oligodontia]
Both
BMP
2
and
BMP
4
are
involved
in
tooth
development
.
We
examined
phenotypes
and
BMP
2
and
BMP
4
gene
variations
in
two
Mexican
oligodontia
families
.
Physical
and
oral
examinations
and
panoramic
radiographs
were
performed
on
affected
and
unaffected
members
in
these
two
families
.
The
affected
members
lacked
six
or
more
teeth
.
DNA
sequencing
was
performed
to
detect
BMP
2
and
BMP
4
gene
variations
.
Three
single
nucleotide
polymorphisms
(
SNPs
)
in
BMP
2
and
BMP
4
genes
were
identified
in
the
two
families
,
including
one
synonymous
and
two
missense
SNPs
:
BMP
2
c
261
A
>
G
,
pS
87
S
,
BMP
2
c
570
A
>
T
,
pR
190
S
,
and
BMP
4
c
455
T
>
C
,
pV
152
A
.
Among
the
six
affected
patients
,
67
%
carried
"
GG
"
or
"
AG
"
genotype
in
BMP
2
c
261
A
>
G
and
four
were
"
TT
"
or
"
AT
"
genotype
in
BMP
2
c
570
A
>
T
(
pR
190
S
)
.
Polymorphism
of
BMP
4
c
455
T
>
C
resulted
in
amino
acid
changes
of
Val
/
Ala
(
pV
152
A
)
.
BMP
2
c
261
A
>
G
and
BMP
4
c
455
T
>
C
affect
mRNA
stability
.
This
was
the
first
time
that
BMP
2
and
BMP
4
SNPs
were
observed
in
Mexican
oligodontia
families
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom