Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:medical_condition
gptkb:form_of_congenital_adrenal_hyperplasia |
| gptkbp:associatedWith |
gptkb:CYP21A2
|
| gptkbp:causedBy |
gptkb:21-hydroxylase_deficiency
|
| gptkbp:characterizedBy |
excess androgen production
impaired aldosterone production impaired cortisol production |
| gptkbp:complication |
shock
death if untreated adrenal crisis |
| gptkbp:diagnosedBy |
newborn screening
serum 17-hydroxyprogesterone measurement |
| gptkbp:prevalence |
most common form of classic CAH
|
| gptkbp:riskFactor |
autosomal recessive inheritance
|
| gptkbp:symptom |
vomiting
dehydration failure to thrive hypotension hyponatremia hyperkalemia |
| gptkbp:treatment |
glucocorticoid replacement
mineralocorticoid replacement salt supplementation |
| gptkbp:bfsParent |
gptkb:Congenital_Adrenal_Hyperplasia
gptkb:CYP21A2_gene |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
salt-wasting CAH
|