Hypertension and Aldosterone disorders
Gene: HSD11B2

HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2)
EnsemblGeneIds (GRCh38): ENSG00000176387
EnsemblGeneIds (GRCh37): ENSG00000176387
OMIM: 614232, Gene2Phenotype
HSD11B2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone.

More than 10 unrelated families reported.
Created: 30 May 2021, 10:24 a.m. | Last Modified: 30 May 2021, 10:24 a.m.

Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Apparent mineralocorticoid excess, MIM# 218030; MONDO:0009025

Publications

Created: 30 May 2021, 10:24 a.m.
Last Modified: 30 May 2021, 10:24 a.m.
Panel version: 0.33

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
KidGen_AldoHypertension v38.1.0

Phenotypes

Apparent mineralocorticoid excess, MIM# 218030
MONDO:0009025

OMIM

614232

Clinvar variants

Variants in HSD11B2

Penetrance

None

Publications

Panels with this gene