Deficiency of steroid 11-beta-monooxygenase: genes and variants
Deficiency of steroid 11-beta-monooxygenase is linked to 1 analyzed protein (CYP11B1). 33 DNA variants are known to cause it; 111 more are uncertain, and 3 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Deficiency of steroid 11-beta-monooxygenase
CYP11B1: Cytochrome P450 11B1, mitochondrial
It catalyzes the final step of cortisol synthesis and also contributes to adrenal steroid metabolism. Biallelic loss-of-function variants cause 11-beta-hydroxylase-deficient congenital adrenal hyperplasia, characterized by cortisol deficiency, androgen excess, and frequently hypertension.
33 disease-causing and 111 uncertain variants in CYP11B1 are linked to Deficiency of steroid 11-beta-monooxygenase.
Known disease-causing variants in Deficiency of steroid 11-beta-monooxygenase
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CYP11B1 R448C | 448 | Disease-causing (★★) | |
| CYP11B1 R332Q | 332 | Disease-causing (★★) | |
| CYP11B1 R448H | 448 | Disease-causing (★★) | |
| CYP11B1 R332W | 332 | Disease-causing (★★) | |
| CYP11B1 R448P | 448 | Disease-causing (★★) | |
| CYP11B1 P42S | 42 | Disease-causing (★★) | |
| CYP11B1 T318M | 318 | Disease-causing (★★) | |
| CYP11B1 T319M | 319 | Disease-causing (★★) | |
| CYP11B1 E371K | 371 | Disease-causing (★★) | |
| CYP11B1 R374Q | 374 | Disease-causing (★★) | |
| CYP11B1 P42L | 42 | Disease-causing (★★) | |
| CYP11B1 V316M | 316 | Disease-causing (★★) | |
| CYP11B1 A331V | 331 | Disease-causing (★★) | |
| CYP11B1 L382R | 382 | Disease-causing (★★) | |
| CYP11B1 G444D | 444 | Disease-causing (★★) | |
| CYP11B1 F79I | 79 | Disease-causing (★★) | |
| CYP11B1 P94L | 94 | Disease-causing (★★) | |
| CYP11B1 G267S | 267 | Disease-causing (★★) | |
| CYP11B1 L299P | 299 | Disease-causing (★★) | |
| CYP11B1 A306V | 306 | Disease-causing (★★) | |
| CYP11B1 G379V | 379 | Disease-causing (★★) | |
| CYP11B1 R384Q | 384 | Disease-causing (★★) | |
| CYP11B1 R453Q | 453 | Disease-causing (★★) | |
| CYP11B1 L489S | 489 | Disease-causing (★★) | |
| CYP11B1 R138C | 138 | Disease-causing (★★) | |
| CYP11B1 R454H | 454 | Disease-causing (★★) | |
| CYP11B1 R143W | 143 | Disease-causing (★★) | |
| CYP11B1 R141L | 141 | Disease-causing (★) | |
| CYP11B1 G267D | 267 | Disease-causing (★) | |
| CYP11B1 A165D | 165 | Disease-causing (★) | |
| CYP11B1 A297V | 297 | Disease-causing (★) | |
| CYP11B1 A368D | 368 | Disease-causing | |
| CYP11B1 N133H | 133 | Disease-causing |
Uncertain variants in Deficiency of steroid 11-beta-monooxygenase that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| CYP11B1 R374P | 374 | Uncertain (★★) | +7: 2 other pathogenic changes within 3 positions; R374Q at the same position is pathogenic; seen in 2e-06 of gnomAD DNA copies; REVEL 0.945 | |
| CYP11B1 R374W | 374 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; R374Q at the same position is pathogenic; REVEL 0.892 | |
| CYP11B1 R454P | 454 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; R454H at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.700 |
Which prediction tools work for Deficiency of steroid 11-beta-monooxygenase
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CADD: 98 out of 100
- PolyPhen-2: 98 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 98 out of 100
- REVEL: 97 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- phyloP: 87 out of 100
Same protein, different disease
- Congenital adrenal hyperplasia is also caused by CYP11B1 variants; they fall partly in the same places as the Deficiency of steroid 11-beta-monooxygenase variants (10 disease-causing).
Diseases related to Deficiency of steroid 11-beta-monooxygenase
- Congenital adrenal hyperplasia, also linked to CYP11B1
- Differences in sex development, also linked to CYP11B1
- Glucocorticoid-remediable aldosteronism, also linked to CYP11B1
Frequently asked questions
Which genes are linked to Deficiency of steroid 11-beta-monooxygenase?
In CATVariant, Deficiency of steroid 11-beta-monooxygenase is linked to 1 analyzed protein: CYP11B1 (Cytochrome P450 11B1, mitochondrial).
How many genetic variants are linked to Deficiency of steroid 11-beta-monooxygenase?
150 variants: 33 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 111 are of uncertain significance or have conflicting reports.
Which uncertain variants in Deficiency of steroid 11-beta-monooxygenase look disease-causing?
3 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example CYP11B1 R374P, CYP11B1 R374W and CYP11B1 R454P. These are leads for expert review, not diagnoses.
Which variant effect predictor works best for Deficiency of steroid 11-beta-monooxygenase?
Among tools not trained on clinical labels, CADD separates this disease's known disease-causing variants from harmless ones best (AUROC 0.98, based on 28 disease-causing and 9 harmless variants).
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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