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A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
simplex
is
an
autosomal
dominant
inherited
skin
blistering
disorder
caused
by
mutations
in
the
genes
KRT
5
or
KRT
14
coding
for
the
basal
epidermal
keratins
5
and
14
,
respectively
.
We
describe
a
novel
heterozygous
pathogenic
missense
mutation
(
KRT
5
:
c
.
596
A
>
T
,
p
.
Lys
199
M
et
)
in
a
Hindoestan
male
with
early
onset
localized
epidermolysis
bullosa
simplex
that
segregated
with
the
phenotype
in
the
family
.
We
also
found
a
new
heterozygous
amino
acid
substitution
polymorphism
in
the
variable
keratin
14
N-
terminal
head
domain
(
KRT
14
:
c
.
88
C
>
T
,
p
.
Arg
30
C
ys
)
,
that
did
not
segregate
with
the
phenotype
.
Diseases
Validation
Diseases presenting
"early onset"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
coats disease
cohen syndrome
congenital diaphragmatic hernia
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
fabry disease
familial mediterranean fever
homocystinuria without methylmalonic aciduria
inclusion body myositis
kindler syndrome
krabbe disease
papillon-lefèvre syndrome
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
triple a syndrome
von hippel-lindau disease
werner syndrome
wolf-hirschhorn syndrome
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