NR3C1 gene related symptoms and diseases
All the information presented here about the NR3C1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NR3C1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hypertension | Very Common - Between 80% and 100% cases |
| Adrenal hyperplasia | Very Common - Between 80% and 100% cases |
| Increased urinary cortisol level | Very Common - Between 80% and 100% cases |
| Hypokalemic alkalosis | Very Common - Between 80% and 100% cases |
| Female pseudohermaphroditism | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NR3C1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Frontal balding
- Increased circulating ACTH level
- Decreased circulating aldosterone level
- Menstrual irregularities
- Metabolic alkalosis
- Decreased circulating cortisol level
- Chronic fatigue
- Oligospermia
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NR3C1 gene
Here you will find a list of rare diseases related to the NR3C1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLUCOCORTICOID RESISTANCE
Alternate names
GLUCOCORTICOID RESISTANCE Is also known as gccr deficiency, glucocorticoid receptor deficiency, grl deficiency, cortisol resistance from glucocorticoid receptor defect, gcr deficiency
Description
An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.
Most common symptoms of GLUCOCORTICOID RESISTANCE
- Hypertension
- Fatigue
- Hypoglycemia
- Anxiety
- Stroke
More info about GLUCOCORTICOID RESISTANCE
Search interest in NR3C1
Potential gene panels for NR3C1 gene
NR3C1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NR3C1 gene.
More info about this panel Spain.
Glucocorticoid resistance (sequence analysis of NR3C1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NR3C1 gene.
More info about this panel Portugal.
Glucocorticoid resistance: NR3C1 gene sequence analysis Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the NR3C1 gene.
More info about this panel Germany.
Female Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
Glucocorticoid resistance, generalized Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NR3C1 gene.
More info about this panel Germany.
qGenEx Sex development disorders Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1
More info about this panel Spain.
Glucocorticoid resistance: NR3C1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NR3C1 gene.
More info about this panel Spain.
NR3C1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NR3C1 gene.
More info about this panel United States.
Glucocorticoid Deficiency Panel Panel
Finland.
By Blueprint Genetics Glucocorticoid Deficiency Panel that also includes the following genes: STAR MRAP MC2R NNT NR3C1 POMC
More info about this panel Finland.
Cortisol resistance Panel
Spain.
By Bioarray
This panel specifically test the NR3C1 gene.
More info about this panel Spain.
GLUCOCORTICOID RESISTANCE Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NR3C1 gene.
More info about this panel Spain.
Glucocorticoid Resistance , Sequencing NR3C1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the NR3C1 gene.
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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