OnlineIMD
21-hydroxylase deficiency
Synonym(s)
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
CYP21A2
/ Cytochrome P450 Family 21 Subfamily A Member 2
6p21.33
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Steroid 21-hydroxylase
Disease group(s)
24.2 Disorders of steroid metabolism
Child entries
21-hydroxylase deficiency, salt-wasting form
21-hydroxylase deficiency, virilizing form