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  3. HSD11B2
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Renal Tubulopathies and related disorders

Gene: HSD11B2

Green List (high evidence)
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: Imported from Hypertension and Aldosterone disorders panel version 0.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • MONDO:0009025
  • Apparent mineralocorticoid excess, MIM# 218030
OMIM
614232
Clinvar variants
Variants in HSD11B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HSD11B2 was added gene: HSD11B2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: HSD11B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD11B2 were set to 7670488; 17314322; 9683587 Phenotypes for gene: HSD11B2 were set to MONDO:0009025; Apparent mineralocorticoid excess, MIM# 218030