17-alpha-hydroxylase/17,20-lyase deficiency, combined partial: genes and variants
17-alpha-hydroxylase/17,20-lyase deficiency, combined partial is linked to 1 analyzed protein (CYP17A1). 2 DNA variants are known to cause it; 0 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 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
CYP17A1: Steroid 17-alpha-hydroxylase/17,20 lyase
Its 17-alpha-hydroxylase and 17,20-lyase activities direct adrenal and gonadal steroid synthesis toward glucocorticoids and sex steroids. Biallelic deficiency causes 17-alpha-hydroxylase/17,20-lyase deficiency with hypertension, hypokalemia, and impaired sexual development.
2 disease-causing and 0 uncertain variants in CYP17A1 are linked to 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial.
Known disease-causing variants in 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CYP17A1 F453S | 453 | Disease-causing | |
| CYP17A1 D116V | 116 | Disease-causing |
Same protein, different disease
- Deficiency of steroid 17-alpha-monooxygenase is also caused by CYP17A1 variants; they fall mostly in different places as the 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial variants (40 disease-causing).
- Congenital adrenal hyperplasia is also caused by CYP17A1 variants; they fall mostly in different places as the 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial variants (13 disease-causing).
- 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete is also caused by CYP17A1 variants; they fall mostly in different places as the 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial variants (3 disease-causing).
Diseases related to 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
- Congenital adrenal hyperplasia, also linked to CYP17A1
- Deficiency of steroid 17-alpha-monooxygenase, also linked to CYP17A1
- Differences in sex development, also linked to CYP17A1
- Prostate cancer, also linked to CYP17A1
- 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete, also linked to CYP17A1
Frequently asked questions
Which genes are linked to 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial?
In CATVariant, 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial is linked to 1 analyzed protein: CYP17A1 (Steroid 17-alpha-hydroxylase/17,20 lyase).
How many genetic variants are linked to 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial?
6 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial 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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