NR3C2 gene related symptoms and diseases
All the information presented here about the NR3C2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NR3C2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Uncommon - Between 30% and 50% cases |
| Hyperaldosteronism | Uncommon - Between 30% and 50% cases |
| Decreased circulating renin level | Uncommon - Between 30% and 50% cases |
| Decreased circulating aldosterone level | Uncommon - Between 30% and 50% cases |
| Hypertension | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NR3C2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hyperactive renin-angiotensin system
- Pseudohypoaldosteronism
- Increased circulating renin level
- Renal salt wasting
- Renal tubular dysfunction
- Hyperkalemia
- Failure to thrive
- Hyponatremia
And 9 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NR3C2 gene
Here you will find a list of rare diseases related to the NR3C2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RENAL PSEUDOHYPOALDOSTERONISM TYPE 1
Alternate names
RENAL PSEUDOHYPOALDOSTERONISM TYPE 1 Is also known as autosomal dominant pseudohypoaldosteronism type 1, pha i, autosomal dominant
Description
Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.
Most common symptoms of RENAL PSEUDOHYPOALDOSTERONISM TYPE 1
- Short stature
- Failure to thrive
- Feeding difficulties
- Vomiting
- Diarrhea
More info about RENAL PSEUDOHYPOALDOSTERONISM TYPE 1
HYPERTENSION DUE TO GAIN-OF-FUNCTION MUTATIONS IN THE MINERALOCORTICOID RECEPTOR
Alternate names
HYPERTENSION DUE TO GAIN-OF-FUNCTION MUTATIONS IN THE MINERALOCORTICOID RECEPTOR Is also known as pseudohyperaldosteronism type 2, early-onset hypertension with exacerbation in pregnancy
Description
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.
Most common symptoms of HYPERTENSION DUE TO GAIN-OF-FUNCTION MUTATIONS IN THE MINERALOCORTICOID RECEPTOR
- Hypertension
- Decreased circulating aldosterone level
- Decreased circulating renin level
- Maternal hypertension
More info about HYPERTENSION DUE TO GAIN-OF-FUNCTION MUTATIONS IN THE MINERALOCORTICOID RECEPTOR
Search interest in NR3C2
Potential gene panels for NR3C2 gene
Pseudohypoaldosteronism Type 1 NGS panel Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Pseudohypoaldosteronism Type 1 NGS panel that also includes the following genes: SCNN1A SCNN1B SCNN1G NR3C2
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.
NR3C2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NR3C2 gene.
More info about this panel Spain.
Pseudohypoaldosteronism type I (sequence analysis of NR3C2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NR3C2 gene.
More info about this panel Portugal.
Pseudohyperaldosteronism type 1 (delections/duplications in NR3C2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NR3C2 gene.
More info about this panel Portugal.
Pseudohypoaldosteronism (NGS panel of 9 genes) Panel
Portugal.
By CGC Genetics Pseudohypoaldosteronism (NGS panel of 9 genes) that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 CYP11B2 KLHL3 NR3C2
More info about this panel Portugal.
Pseudohyperaldosteronism type 1 (delections/duplications in NR3C2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NR3C2 gene.
More info about this panel Portugal.
Pseudohypoaldosteronism (NGS panel of 9 genes) Panel
Portugal.
By CGC Genetics Pseudohypoaldosteronism (NGS panel of 9 genes) that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 CYP11B2 KLHL3 NR3C2
More info about this panel Portugal.
Pseudohypoaldosteronism type 1 autosomal dominant Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the NR3C2 gene.
More info about this panel Germany.
Liddle syndrome Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Liddle syndrome that also includes the following genes: SCNN1B SCNN1G STK39 NEDD4 NEDD4L NR3C2 OXSR1
More info about this panel Germany.
Autosomal Dominant Pseudohypoaldosteronism Type 1 via NR3C2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the NR3C2 gene.
More info about this panel United States.
Pseudohypoaldosteronism Type I Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Pseudohypoaldosteronism Type I Sequencing Panel with CNV Detection that also includes the following genes: SCNN1A SCNN1B SCNN1G NR3C2
More info about this panel United States.
Pseudohypoaldosteronism Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the NR3C2 gene.
More info about this panel Germany.
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.
Pseudohypoaldosteronism type I, autosomal dominant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NR3C2 gene.
More info about this panel Germany.
Hypertension early onset Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NR3C2 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.
Pseudohypoaldosteronism type 1 autosomal dominant Panel
Greece.
By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology
This panel specifically test the NR3C2 gene.
More info about this panel Greece.
Pseudohypoaldosteronism Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the NR3C2 gene.
More info about this panel Austria.
NR3C2 Gene Sequencing Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the NR3C2 gene.
More info about this panel Colombia.
Pseudohypoaldosteronism Panel
Slovakia.
By MedGene
This panel specifically test the NR3C2 gene.
More info about this panel Slovakia.
Pseudohypoaldosteronism type 1, autosomal dominant: NR3C2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NR3C2 gene.
More info about this panel Spain.
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.
NR3C2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NR3C2 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.
Pseudohypoaldosteronism type 1, autosomal dominant Panel
Spain.
By Bioarray
This panel specifically test the NR3C2 gene.
More info about this panel Spain.
EARLY-ONSET HYPERTENSION Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NR3C2 gene.
More info about this panel Spain.
PSEUDOHYPOALDOSTERONISM, RENAL, TYPE 1 (AUTOSOMAL DOMINANT) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NR3C2 gene.
More info about this panel Spain.
PSEUDOHYPERALDOSTERONISM TYPE 2 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NR3C2 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.
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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