Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis: genes and variants
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis is linked to 1 analyzed protein (POR). 7 DNA variants are known to cause it; 15 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 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
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 15 uncertain variants in POR are linked to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.
Where Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis variants cluster
- POR FAD-binding FR-type (positions 279–521): 4 of 7 disease-causing changes, 1.6× more than its size predicts.
Known disease-causing variants in Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| POR G536R | 536 | Cytoplasmic | Disease-causing (★★) |
| POR A284P | 284 | FAD-binding FR-type | Disease-causing (★★) |
| POR R454H | 454 | FAD-binding FR-type | Disease-causing (★★) |
| POR L562P | 562 | Cytoplasmic | Disease-causing (★★) |
| POR V489E | 489 | FAD-binding FR-type | Disease-causing |
| POR W493R | 493 | FAD-binding FR-type | Disease-causing |
| POR Y575C | 575 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is also caused by POR variants; they fall mostly in different places as the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis variants (7 disease-causing).
Diseases related to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- Congenital adrenal hyperplasia, also linked to POR
- Differences in sex development, also linked to POR
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, 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 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis?
In CATVariant, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis is linked to 1 analyzed protein: POR (NADPH--cytochrome P450 reductase).
How many genetic variants are linked to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis?
32 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 15 are of uncertain significance or have conflicting reports.
Which uncertain variants in Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 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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