/congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Rare Disease

MONDO:0013310

Also Known As

POR deficiencyPORDcongenital adrenal hyperplasia due to cytochrome POR deficiencyadrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiencydisordered steroidogenesis due to POR deficiencydisordered steroidogenesis due to cytochrome P450 oxidoreductasedisordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency

Definition

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.

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Associated Genes

POR ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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