Glucocorticoid Resistance

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Glucocorticoid Resistance

NR3C1

View recommended genes panels

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.

Click here to know more about Mendelian.

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.

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 Panel complete gene list BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6, WDR11, CBX2, SPRY4, PROKR2, MCM8, TRIM32, IL17RD, PSMC3IP, ARX, PROK2, BBS7, TTC8, HFM1, PADI6, CHD7, CLPP, MCM9, RSPO1, LHX4, NOBOX, FEZF1, FIGLA, MAMLD1, CYP11A1, CYP17A1, CYP19A1, BBS10, BBS12, CCDC141, SOHLH1, DHH, SYCE1, DMRT1, DMRT2, NSMF, NUP107, BBS9, DUSP6, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, AIRE, FGF17, FGF8, FGFR1, FGFR2, FLRT3, AKR1C4, FSHB, FSHR, GALT, GNRH1, GNRHR, KISS1R, HESX1, HFE, HS6ST1, HSD17B3, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MKKS, NR0B1, NR3C1, NR5A1, PCSK1, ATRX, AXL, POR, PRLR, PROP1, BBS1, BBS2, BBS4, BBS5 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 Panel complete gene list ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC, TAC3, TACR3, TAF4B, TBX15, HNF1B, TEX11, MED12, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX, ZP1, ARL6, FBXL4, WDR11, SLC26A8, ZEB2, CBX2, SPRY4, SETBP1, PROKR2, TOE1, TP63, PCNT, MCM8, SUN5, TRIM32, ZFPM2, UBR1, FIG4, CATSPER1, IL17RD, CDKN1C, PSMC3IP, ARX, SYCP3, HHAT, PROK2, GRIP1, BBS7, KLHL10, CFTR, FRAS1, CHD4, PLCZ1, EVC2, TTC8, HFM1, B3GLCT, PADI6, CHD7, TWIST2, CLPP, BCOR, ZMYND15, CUL7, ICK, MCM9, RSPO1, GALNTL5, LHX4, WDR60, NOBOX, FEZF1, NANOS1, FAT4, CREBBP, FIGLA, FREM2, CFAP44, MAMLD1, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, TMEM70, BBS10, SEPT12, BBS12, CFAP43, CCDC141, ESCO2, SOHLH1, CCNQ, DHCR24, DHCR7, DHH, SYCE1, SPECC1L, WDR35, EPG5, DMRT1, DMRT2, DNAH1, DYNC2H1, DNMT3B, NSMF, NUP107, SPATA16, BBS9, DUSP6, TRAIP, BNC2, EFNB1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EVC, AIRE, FGF10, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FLNA, FLRT3, AKR1C4, FSHB, FSHR, GALT, GATA4, GLI3, GNRH1, GNRHR, GPC3, KISS1R, ADGRG2, AMH, AMHR2, HBA1, HCCS, HESX1, HFE, RIPK4, HOXA13, HOXA4, HOXB6, HS6ST1, HSD17B3, HSD17B4, HSD3B2, INSL3, IRF6, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MID1, MKKS, MKS1, NEK1, ATF3, NPAS2, NR0B1, NR3C1, NR5A1, OPHN1, PCSK1, PDE4D, PEX1, ATRX, PITX2, AXL, POR, PICK1, PRLR, PROP1, PTDSS1, PTPN11, BBS1, BBS2, BBS4, BBS5, RBBP8 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 Panel complete gene list ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX, ARL6, FBXL4, WDR11, ZEB2, CBX2, SETBP1, PROKR2, TOE1, TP63, PCNT, TRIM32, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, PSMC3IP, ARX, HHAT, PROK2, GRIP1, BBS7, FRAS1, CHD4, EVC2, TTC8, B3GLCT, CHD7, TWIST2, BCOR, CUL7, ICK, MCM9, RSPO1, LHX4, WDR60, FEZF1, FAT4, CREBBP, FREM2, MAMLD1, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, TMEM70, BBS10, BBS12, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, WDR35, EPG5, DMRT1, DMRT2, DYNC2H1, DNMT3B, NSMF, BBS9, TRAIP, BNC2, EFNB1, EVC, FGF10, FGF8, FGFR1, FGFR2, FGFR3, FLNA, AKR1C4, FSHB, FSHR, GATA4, GLI3, GNRH1, GNRHR, GPC3, KISS1R, AMH, AMHR2, HBA1, HCCS, HESX1, HFE, RIPK4, HOXA13, HOXA4, HOXB6, HS6ST1, HSD17B3, HSD17B4, HSD3B2, INSL3, IRF6, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MID1, MKKS, MKS1, NEK1, ATF3, NR0B1, NR3C1, NR5A1, OPHN1, PCSK1, PDE4D, PEX1, ATRX, PITX2, POR, PROP1, PTDSS1, PTPN11, BBS1, BBS2, BBS4, BBS5, RBBP8 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 Panel complete gene list ROR2, SOX3, SOX9, SRD5A2, SRY, STAR, CEP41, TSPYL1, WNT4, WT1, CBX2, ZFPM2, ARX, GRIP1, FRAS1, RSPO1, WDR60, B9D1, TCTN3, FREM2, MAMLD1, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, DHCR7, DHH, DMRT1, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, RIPK4, HOXA13, HSD17B3, HSD3B2, AR, LHCGR, MAP3K1, MKKS, NEK1, NR0B1, NR3C1, NR5A1, ATRX, POR Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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