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Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.
[fabry disease]
Fabry
disease
is
an
X-
linked
multisystemic
lysosomal-storage
condition
.
We
describe
a
large
family
with
a
novel
GLA
mutation
:
p
.
M
187
R
/
g
7219
T
>
G
.
A
namnesis
/
physical-exam
,
blood
/
urine
analysis
,
α-
Gal-
A
activity
and
/
or
genetic
study
of
at
-risk
individuals
and
multidisciplinary
evaluation
in
confirmed
cases
.
4
males
and
13
heterozygous-females
displayed
the
mutation
.
Cardiac
/
renal
/
neurological
disease
was
diagnosed
at
a
mean
age
of
41
/
29
/
39
years
in
males
and
51
/
56
/
46
years
in
females
.
Onset
mean
age
was
20
years
versus
42
years
.
9
/
15
had
cardiomyopathy
.
Delta
wave
suggestive
of
accessory
pathway
was
identified
in
1
male
and
2
females
.
1
female
had
cardiac
arrest
(
ventricular
fibrillation
,
61
years
)
.
2
females
and
1
male
died
suddenly
(
63
,
64
and
57
years
)
.
Cardiac
-subscore
of
Mainz
Severity-
Score-
Index
was
severe
for
males
and
females
over
40
years
.
4
/
15
(
26
%
)
developed
early
renal
disease
.
2
males
needed
dialysis
.
1
male
died
at
69
years
in
spite
of
kidney-
heart
transplant
.
We
describe
the
largest
genetically
confirmed
Spanish
family
using
multidisciplinary
evaluation
and
MSSI
calculation
.
The
novel
mutation
p
.
M
187
R
/
g
7219
T
>
G
is
associated
with
a
particularly
malignant
cardiac
phenotype
in
males
and
females
over
40
years
.
Severity
was
higher
than
that
of
the
largest
Spanish
FOS
-cohort
.
Short
-
PR
with
delta
is
being
reported
for
the
first
time
.
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
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