Glucocorticoid Resistance

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Glucocorticoid Resistance

  • Hypertension
  • Fatigue
  • Hypoglycemia
  • Anxiety
  • Stroke
  • Infertility
  • Hirsutism
  • Ambiguous genitalia
  • Hypokalemia
  • Precocious puberty

And another 20 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Glucocorticoid Resistance Is also known as gccr deficiency, glucocorticoid receptor deficiency, grl deficiency, cortisol resistance from glucocorticoid receptor defect, gcr deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Glucocorticoid Resistance Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NR3C1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

NR3C1
Specificity
100 %
Genes
100 %
Glucocorticoid resistance (sequence analysis of NR3C1 gene).

By CGC Genetics (Portugal).

NR3C1
Specificity
100 %
Genes
100 %
Glucocorticoid resistance: NR3C1 gene sequence analysis.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

NR3C1
Specificity
100 %
Genes
100 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Glucocorticoid resistance, generalized.

By Centogene AG - the Rare Disease Company (Germany).

NR3C1
Specificity
100 %
Genes
100 %
qGenEx Sex development disorders.

By Quantitative Genomic Medicine Laboratories, SL (Spain).

ROR2, SOX3, SOX9, SRD5A2, SRY, STAR, CEP41, TSPYL1, WNT4, WT1, CBX2, ZFPM2, ARX, GRIP1, FRAS1, RSPO1, WDR60, B9D1, TCTN3, FREM2 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %

We have 7 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3 MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT

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