X-linked adrenal hypoplasia congenita
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
adrenal glands
males predominantly |
| gptkbp:associatedWith |
failure to thrive
delayed puberty salt-wasting crisis |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1948
|
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked adrenal hypoplasia congenita
|
| gptkbp:ICD-10_code |
E25.0
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:locatedOnChromosome |
gptkb:Xp21.2
|
| gptkbp:mutationAssociatedWith |
NR0B1 gene
|
| gptkbp:OMIM |
300200
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hypogonadotropic hypogonadism
adrenal insufficiency |
| gptkbp:treatment |
hormone replacement therapy
|
| gptkbp:bfsParent |
gptkb:NR0B1
|
| gptkbp:bfsLayer |
7
|