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.

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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

SOURCES: OMIM ORPHANET MESH


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

Glucocorticoid resistance (sequence analysis of NR3C1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NR3C1 gene.

More info about this panel

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

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

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

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

Glucocorticoid resistance, generalized Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NR3C1 gene.

More info about this panel

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

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

NR3C1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NR3C1 gene.

More info about this panel

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

Cortisol resistance Panel

Spain.

By Bioarray

This panel specifically test the NR3C1 gene.

More info about this panel

GLUCOCORTICOID RESISTANCE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the NR3C1 gene.

More info about this panel

Glucocorticoid Resistance , Sequencing NR3C1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NR3C1 gene.

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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