classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Findings
No curated finding names classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.
Definition from the Mondo Disease Ontology (MONDO:0017839), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYP21A2HGNC:2600
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
- Also called
- classic 21-OHD CAH, salt wasting form