3 beta-Hydroxysteroid dehydrogenase deficiency: genes and variants
3 beta-Hydroxysteroid dehydrogenase deficiency is linked to 1 analyzed protein (HSD3B2). 17 DNA variants are known to cause it; 43 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 3 beta-Hydroxysteroid dehydrogenase deficiency
HSD3B2: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
It catalyzes an early essential step in adrenal and gonadal steroid synthesis, converting pregnenolone and related 3-beta-hydroxysteroids into progesterone-class intermediates. Biallelic deficiency causes congenital adrenal hyperplasia with impaired cortisol and aldosterone synthesis and variable disordered sex development.
17 disease-causing and 43 uncertain variants in HSD3B2 are linked to 3 beta-Hydroxysteroid dehydrogenase deficiency.
Known disease-causing variants in 3 beta-Hydroxysteroid dehydrogenase deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| HSD3B2 P222T | 222 | Disease-causing (★★) | |
| HSD3B2 P222Q | 222 | Disease-causing (★★) | |
| HSD3B2 G12E | 12 | Disease-causing (★★) | |
| HSD3B2 A82T | 82 | Disease-causing (★★) | |
| HSD3B2 G250V | 250 | Disease-causing (★★) | |
| HSD3B2 Y253N | 253 | Disease-causing (★★) | |
| HSD3B2 A10E | 10 | Disease-causing (★★) | |
| HSD3B2 E142K | 142 | Disease-causing (★★) | |
| HSD3B2 L173R | 173 | Disease-causing (★★) | |
| HSD3B2 T259M | 259 | Disease-causing (★★) | |
| HSD3B2 L234P | 234 | Disease-causing (★) | |
| HSD3B2 Y264C | 264 | Disease-causing (★) | |
| HSD3B2 P155L | 155 | Disease-causing (★) | |
| HSD3B2 V116G | 116 | Disease-causing (★) | |
| HSD3B2 A82P | 82 | Disease-causing | |
| HSD3B2 P341L | 341 | Disease-causing | |
| HSD3B2 V248N | 248 | Disease-causing |
Same protein, different disease
- Congenital adrenal hyperplasia is also caused by HSD3B2 variants; they fall mostly in different places as the 3 beta-Hydroxysteroid dehydrogenase deficiency variants (8 disease-causing).
Diseases related to 3 beta-Hydroxysteroid dehydrogenase deficiency
- Congenital adrenal hyperplasia, also linked to HSD3B2
- Hypospadias, also linked to HSD3B2
Frequently asked questions
Which genes are linked to 3 beta-Hydroxysteroid dehydrogenase deficiency?
In CATVariant, 3 beta-Hydroxysteroid dehydrogenase deficiency is linked to 1 analyzed protein: HSD3B2 (3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2).
How many genetic variants are linked to 3 beta-Hydroxysteroid dehydrogenase deficiency?
61 variants: 17 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 43 are of uncertain significance or have conflicting reports.
Which uncertain variants in 3 beta-Hydroxysteroid dehydrogenase 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center