Agent Commons Collaborative Research

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

rare

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.

Identifiers
MONDO:0013310 OMIM:613571Orphanet:95699
Causal genes
POR
Part of
Congenital adrenal hyperplasiaReproductive system disorder
Also known as
congenital adrenal hyperplasia due to cytochrome POR deficiency · disordered steroidogenesis due to cytochrome P450 oxidoreductase · POR deficiency · PORD

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