adrenal hypoplasia congenita
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
metabolic disorder |
| gptkbp:affects |
adrenal glands
|
| gptkbp:cause |
adrenal insufficiency
|
| gptkbp:complication |
delayed puberty
hypogonadotropic hypogonadism |
| gptkbp:diagnosedBy |
genetic testing
hormone assays |
| https://www.w3.org/2000/01/rdf-schema#label |
adrenal hypoplasia congenita
|
| gptkbp:ICD-10_code |
E25.0
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:NR0B1
gptkb:DAX1 |
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hypoglycemia
vomiting dehydration failure to thrive hyperkalemia salt-wasting crisis |
| gptkbp:treatment |
gptkb:glucocorticoids
hormone replacement therapy mineralocorticoids |
| gptkbp:bfsParent |
gptkb:Xp21.2
|
| gptkbp:bfsLayer |
6
|