Glucocorticoid-remediable aldosteronism: genes and variants
Glucocorticoid-remediable aldosteronism is linked to 1 analyzed protein (CYP11B1). 20 DNA variants are known to cause it; 95 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 Glucocorticoid-remediable aldosteronism
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.
20 disease-causing and 95 uncertain variants in CYP11B1 are linked to Glucocorticoid-remediable aldosteronism.
Weakly linked (only a few uncertain records): HBD.
Known disease-causing variants in Glucocorticoid-remediable aldosteronism
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CYP11B1 R332Q | 332 | Disease-causing (★★) | |
| CYP11B1 R332W | 332 | Disease-causing (★★) | |
| CYP11B1 P42S | 42 | Disease-causing (★★) | |
| CYP11B1 T318M | 318 | Disease-causing (★★) | |
| CYP11B1 R448H | 448 | Disease-causing (★★) | |
| CYP11B1 T319M | 319 | Disease-causing (★★) | |
| CYP11B1 R448P | 448 | Disease-causing (★★) | |
| CYP11B1 P42L | 42 | Disease-causing (★★) | |
| CYP11B1 V316M | 316 | Disease-causing (★★) | |
| CYP11B1 A331V | 331 | Disease-causing (★★) | |
| CYP11B1 G444D | 444 | Disease-causing (★★) | |
| CYP11B1 P94L | 94 | Disease-causing (★★) | |
| CYP11B1 L299P | 299 | Disease-causing (★★) | |
| CYP11B1 E371K | 371 | Disease-causing (★★) | |
| CYP11B1 R384Q | 384 | Disease-causing (★★) | |
| CYP11B1 R453Q | 453 | Disease-causing (★★) | |
| CYP11B1 L382R | 382 | Disease-causing (★★) | |
| CYP11B1 G267S | 267 | Disease-causing (★★) | |
| CYP11B1 R143W | 143 | Disease-causing (★★) | |
| CYP11B1 A297V | 297 | Disease-causing (★) |
Which prediction tools work for Glucocorticoid-remediable aldosteronism
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: 96 out of 100
- REVEL: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 94 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- phyloP: 86 out of 100
Same protein, different disease
- Deficiency of steroid 11-beta-monooxygenase is also caused by CYP11B1 variants; they fall partly in the same places as the Glucocorticoid-remediable aldosteronism variants (33 disease-causing).
- Congenital adrenal hyperplasia is also caused by CYP11B1 variants; they fall partly in the same places as the Glucocorticoid-remediable aldosteronism variants (10 disease-causing).
Diseases related to Glucocorticoid-remediable aldosteronism
- Congenital adrenal hyperplasia, also linked to CYP11B1
- Deficiency of steroid 11-beta-monooxygenase, also linked to CYP11B1
- Differences in sex development, also linked to CYP11B1
Frequently asked questions
Which genes are linked to Glucocorticoid-remediable aldosteronism?
In CATVariant, Glucocorticoid-remediable aldosteronism is linked to 1 analyzed protein: CYP11B1 (Cytochrome P450 11B1, mitochondrial).
How many genetic variants are linked to Glucocorticoid-remediable aldosteronism?
139 variants: 20 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 95 are of uncertain significance or have conflicting reports.
Which uncertain variants in Glucocorticoid-remediable aldosteronism look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Glucocorticoid-remediable aldosteronism?
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 17 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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