HSD11B2 gene related symptoms and diseases

All the information presented here about the HSD11B2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HSD11B2 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Polyuria Very Common - Between 80% and 100% cases
Hypernatremia Very Common - Between 80% and 100% cases
Hyposthenuria Very Common - Between 80% and 100% cases
Hypokalemic alkalosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with HSD11B2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Congenital adrenal hyperplasia
  • Decreased circulating renin level
  • Decreased circulating aldosterone level
  • Metabolic alkalosis
  • Alkalosis
  • Adrenal hyperplasia
  • Hyperaldosteronism
  • Subarachnoid hemorrhage

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HSD11B2 gene

Here you will find a list of rare diseases related to the HSD11B2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


APPARENT MINERALOCORTICOID EXCESS


Alternate names

APPARENT MINERALOCORTICOID EXCESS Is also known as ame1, 11-beta-hydroxysteroid dehydrogenase deficiency type 2, ulick syndrome, cortisol 11-beta-ketoreductase deficiency

Description

Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.

Most common symptoms of APPARENT MINERALOCORTICOID EXCESS

  • Short stature
  • Growth delay
  • Failure to thrive
  • Hypertension
  • Renal insufficiency


More info about APPARENT MINERALOCORTICOID EXCESS

SOURCES: OMIM ORPHANET


Potential gene panels for HSD11B2 gene

Endocrine Hypertension (HSD11B2) Evaluation Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the HSD11B2 gene.

More info about this panel

HSD11B2 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the HSD11B2 gene.

More info about this panel

Monogenic Hypertension Evaluation Panel

United States.

By Athena Diagnostics Inc Monogenic Hypertension Evaluation that also includes the following genes: SCNN1B SCNN1G CYP11B1 HSD11B2

More info about this panel

ExomePLUS Electrolyte & Kidney Stone Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73

More info about this panel

HSD11B2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the HSD11B2 gene.

More info about this panel

Apparent mineralocorticoid excess (sequence analysis of HSD11B2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HSD11B2 gene.

More info about this panel

Apparent mineralocorticoid excess Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the HSD11B2 gene.

More info about this panel

Pseudoprimary hyperaldosteronism Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the HSD11B2 gene.

More info about this panel

Apparent Mineralocorticoid Excess via HSD11B2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the HSD11B2 gene.

More info about this panel

Hypertension Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hypertension that also includes the following genes: SCNN1A SCNN1G SDHA SDHB SDHC SDHD WNK1 WNK4 CUL3 CYP17A1

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Bartter Syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Bartter Syndrome panel that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5

More info about this panel

Apparent mineralocorticoid excess Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HSD11B2 gene.

More info about this panel

Pseudohypoaldosteronism Panel Panel

Germany.

By CeGaT GmbH Pseudohypoaldosteronism Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 HSD11B2 KLHL3 NR3C2

More info about this panel

BARTTER SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases BARTTER SYNDROME that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5

More info about this panel

HSD11B2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HSD11B2 gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Pseudohypoaldosteronism Panel Panel

Finland.

By Blueprint Genetics Pseudohypoaldosteronism Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 HSD11B2 KCNJ5 KLHL3 NR3C2

More info about this panel

Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) that also includes the following genes: SCNN1A SCNN1B SLC12A3 CALCA WNK1 STK39 CLCNKA CLCNKB ADD1 ADRA1A

More info about this panel

Apparent mineralocorticoid excess Panel

Spain.

By Bioarray

This panel specifically test the HSD11B2 gene.

More info about this panel

Apparent mineralocorticoid excess Panel

Spain.

By Bioarray

This panel specifically test the HSD11B2 gene.

More info about this panel

11-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY TYPE 2 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the HSD11B2 gene.

More info about this panel

PSEUDOHYPOALDOSTERONISM NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL PSEUDOHYPOALDOSTERONISM NGS PANEL that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 HSD11B2 KLHL3 NR3C2

More info about this panel

BARTTER SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL BARTTER SYNDROME NGS PANEL that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5

More info about this panel

11-Beta-Hydroxyesteroid Dehydrogenase Deficiency, Sequencing HSD11B2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HSD11B2 gene.

More info about this panel

Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes Panel

Spain.

By Reference Laboratory Genetics Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 CA2 WNK1 WNK4 CASR BSND

More info about this panel

Pseudohypoaldosteronism , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Pseudohypoaldosteronism , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 HSD11B2 KLHL3 NR3C2

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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