Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency: genes and variants
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is linked to 1 analyzed protein (POR). 7 DNA variants are known to cause it; 156 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
POR: NADPH--cytochrome P450 reductase
It transfers electrons from NADPH to microsomal cytochrome P450 enzymes, making it essential for steroid synthesis and metabolism of many drugs and xenobiotics. Biallelic pathogenic variants cause P450 oxidoreductase deficiency, with disordered steroidogenesis and skeletal abnormalities.
7 disease-causing and 156 uncertain variants in POR are linked to Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency.
Known disease-causing variants in Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| POR G536R | 536 | Cytoplasmic | Disease-causing (★★) |
| POR Y604C | 604 | Cytoplasmic | Disease-causing (★★) |
| POR R454H | 454 | FAD-binding FR-type | Disease-causing (★★) |
| POR L562P | 562 | Cytoplasmic | Disease-causing (★★) |
| POR G85S | 85 | Flavodoxin-like | Disease-causing (★) |
| POR H625P | 625 | Cytoplasmic | Disease-causing (★) |
| POR V605F | 605 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis is also caused by POR variants; they fall mostly in different places as the Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency variants (7 disease-causing).
Diseases related to Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Congenital adrenal hyperplasia, also linked to POR
- Differences in sex development, also linked to POR
- Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, also linked to POR
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, also linked to POR
Frequently asked questions
Which genes are linked to Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency?
In CATVariant, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is linked to 1 analyzed protein: POR (NADPH--cytochrome P450 reductase).
How many genetic variants are linked to Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency?
183 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 156 are of uncertain significance or have conflicting reports.
Which uncertain variants in Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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