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A random Abstract
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Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.
[adrenomyeloneuropathy]
X-
linked
adrenomyeloneuropathy
(
X-
AMN
)
is
a
genetic
disorder
that
primarily
affects
the
adrenal
cortex
and
the
nervous
system
.
The
disease
shows
a
wide
range
of
phenotypic
expression
,
age
of
onset
,
and
rate
of
progression
.
We
present
a
thalassemic
23
-
year
-old
man
with
X-
AMN
and
multiple
endocrine
disorders
.
At
age
2
years
,
he
was
diagnosed
with
thalassaemia
intermedia
,
and
he
was
receiving
occasional
blood
transfusions
and
maintaining
an
adequate
hemoglobin
level
without
signs
of
extramedullar
hematopoiesis
or
hemosiderosis
.
During
adolescence
,
he
was
diagnosed
with
growth
hormone
deficiency
,
primary
hypothyroidism
,
and
primary
adrenal
insufficiency
.
In
his
early
20
s
he
demonstrated
progressive
tetraparesis
,
and
the
diagnosis
of
X-
AMN
was
confirmed
by
DNA
analysis
of
the
ABCD
1
gene
.
T
his
patient
expands
the
phenotype
X-
AMN
by
adding
growth
hormone
deficiency
and
hypothyroidism
.
Diseases
Validation
Diseases presenting
"hypothyroidism"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alpha-thalassemia
aromatase deficiency
congenital adrenal hyperplasia
cowden syndrome
cushing syndrome
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
inclusion body myositis
kallmann syndrome
pendred syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated