cytochrome P450 oxidoreductase deficiency

Term ID

DOID:0080925

Synonyms

Definition

A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. https://www.ncbi.nlm.nih.gov/books/NBK1419/

References

• GARD:12664
• NCI:C131302
• OMIM:613571

Ontology

Human Disease   ( DOID:0080925 )