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.
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
Search interest in HSD11B2
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 United States.
HSD11B2 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the HSD11B2 gene.
More info about this panel United States.
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 United States.
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 United States.
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 Spain.
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 Portugal.
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 Germany.
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 Germany.
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 United States.
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 Germany.
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 Germany.
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 Germany.
Apparent mineralocorticoid excess Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HSD11B2 gene.
More info about this panel Germany.
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 Germany.
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 Spain.
HSD11B2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HSD11B2 gene.
More info about this panel United States.
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 United States.
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 Finland.
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 Portugal.
Apparent mineralocorticoid excess Panel
Spain.
By Bioarray
This panel specifically test the HSD11B2 gene.
More info about this panel Spain.
Apparent mineralocorticoid excess Panel
Spain.
By Bioarray
This panel specifically test the HSD11B2 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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