GNRHR gene related symptoms and diseases
All the information presented here about the GNRHR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GNRHR gene
Symptoms // Phenotype | % Cases |
---|---|
Primary amenorrhea | Very Common - Between 80% and 100% cases |
Cleft palate | Very Common - Between 80% and 100% cases |
Cryptorchidism | Very Common - Between 80% and 100% cases |
Micropenis | Very Common - Between 80% and 100% cases |
Hypogonadotrophic hypogonadism | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GNRHR gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Gynecomastia
- Decreased testicular size
Not very common - Between 30% and 50% cases
- Hearing impairment
- Generalized joint laxity
- Secondary amenorrhea
- Hypoplasia of the uterus
- Sparse body hair
- Decreased serum testosterone level
And 38 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GNRHR gene
Here you will find a list of rare diseases related to the GNRHR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7
Alternate names
HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7 Is also known as ihh, hypogonadism, isolated hypogonadotropic, idiopathic hypogonadotropic hypogonadism
Description
Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.
Most common symptoms of HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7
- Hearing impairment
- Sensorineural hearing impairment
- Cleft palate
- Cryptorchidism
- Hypogonadism
More info about HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7
SOURCES: OMIM
NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM
Alternate names
NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency, normosmic idiopathic hypogonadotropic hypogonadism, gonadotropic deficiency, nihh
Most common symptoms of NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM
- Hypertelorism
- Cleft palate
- Cryptorchidism
- Depressed nasal bridge
- Abnormality of the dentition
More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM
SOURCES: ORPHANET
Search interest in GNRHR
Potential gene panels for GNRHR gene
Normosmic Kallmann/IHH Evaluation Panel
By Athena Diagnostics Inc Normosmic Kallmann/IHH Evaluation that also includes the following genes: TACR3 PROKR2 PROK2 FGFR1 GNRH1 GNRHR KISS1R
More info about this panelAnosmic Kallmann/IHH Evaluation Panel
By Athena Diagnostics Inc Anosmic Kallmann/IHH Evaluation that also includes the following genes: PROKR2 PROK2 FGF8 FGFR1 GNRHR KISS1R ANOS1
More info about this panelGnRHR DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the GNRHR gene.
More info about this panelComplete Kallmann/IHH Evaluation Panel
By Athena Diagnostics Inc Complete Kallmann/IHH Evaluation that also includes the following genes: TACR3 PROKR2 PROK2 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1R ANOS1
More info about this panelHypogonadotropic Hypogonadism Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Hypogonadotropic Hypogonadism Sequencing Panel that also includes the following genes: TAC3 TACR3 WDR11 PROKR2 IL17RD PROK2 CHD7 FEZF1 NSMF FGF17
More info about this panelHypogonadotropic Hypogonadism Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Hypogonadotropic Hypogonadism Deletion/Duplication Panel that also includes the following genes: TAC3 TACR3 WDR11 PROKR2 IL17RD PROK2 CHD7 FEZF1 NSMF FGF17
More info about this panelGNRHR. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GNRHR gene.
More info about this panelHypogonadotropic hypogonadism 7 with or without anosmia (sequence analysis of GNRHR gene) Panel
By CGC Genetics
This panel specifically test the GNRHR gene.
More info about this panelHypogonadism hypogonadotropic (NGS panel of 26 genes) Panel
By CGC Genetics Hypogonadism hypogonadotropic (NGS panel of 26 genes) that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1
More info about this panelHypogonadism hypogonadotropic (NGS panel of 26 genes) Panel
By CGC Genetics Hypogonadism hypogonadotropic (NGS panel of 26 genes) that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1
More info about this panelIdiopathic Hypogonadotropic Hypogonadism (IHH) via GNRHR Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the GNRHR gene.
More info about this panelHypospadias Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4
More info about this panelKallmann Syndrome (KS) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Kallmann Syndrome (KS) Sequencing Panel with CNV Detection that also includes the following genes: SOX10 TACR3 PROKR2 IL17RD PROK2 CHD7 FGF8 FGFR1 GNRHR ANOS1
More info about this panelHypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E SOX10 SOX2 SOX3 TAC3 TACR3 WDR11 SPRY4 PROKR2
More info about this panelFemale Infertility Sequencing Panel with CNV Detection Panel
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 panelMale Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panelDisorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
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 panelDisorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
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 panelAmbiguous Genitalia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
More info about this panelHypogonadotropic hypogonadism 7 with or without anosmia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GNRHR gene.
More info about this panelSingle gene testing GNRHR Panel
By CeGaT GmbH
This panel specifically test the GNRHR gene.
More info about this panelMale Factor Infertility Panel
By Asper Biogene Asper Biogene LLC Male Factor Infertility that also includes the following genes: TEKT2 XIST USP26 PRDM9 RXFP2 RBMXL2 DDX25 CFTR UTP14C NLRP14
More info about this panelqCarrier Plus Panel
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panelHypogonadotropic hypogonadism: GNRHR gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GNRHR gene.
More info about this panelKALLMANN SYNDROME AND RELATED DISORDERS Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases KALLMANN SYNDROME AND RELATED DISORDERS that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 PROKR2 PROK2 CHD7 NSMF FGF8 FGFR1
More info about this panelEndocrine Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panelEndocrine Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panelKallmann Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Kallmann Syndrome NGS Panel that also includes the following genes: SEMA3A TAC3 TACR3 PROKR2 CHD7 NSMF FGF8 FGFR1 GNRH1 GNRHR
More info about this panelHypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel that also includes the following genes: TAC3 TACR3 PROKR2 CHD7 NSMF FGF8 FGFR1 GNRH1 GNRHR KISS1R
More info about this panelGNRHR Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GNRHR gene.
More info about this panelKallmann Syndrome Panel Panel
By Blueprint Genetics Kallmann Syndrome Panel that also includes the following genes: TACR3 PROKR2 PROK2 CHD7 FGF8 FGFR1 GNRHR KISS1R ANOS1
More info about this panelAbnormal Genitalia/ Disorders of Sex Development Panel Panel
By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4
More info about this panelHypogonadotropic hypogonadism type 7 Panel
By Bioarray
This panel specifically test the GNRHR gene.
More info about this panelKallmann Syndrome NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Kallmann Syndrome NGS and Deletion/Duplication Panel that also includes the following genes: PROKR2 PROK2 CHD7 FGF8 FGFR1 GNRHR ANOS1
More info about this panelGNRHR Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the GNRHR gene.
More info about this panelNORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Panel
By Laboratorio de Genetica Clinica SL NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM that also includes the following genes: GNRHR KISS1R KISS1 LHB
More info about this panelHYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA (KALLLMAN SYNDROME) NGS PANEL Panel
By Laboratorio de Genetica Clinica SL HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA (KALLLMAN SYNDROME) NGS PANEL that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1
More info about this panelKallmann syndrome/gonadotropin-releasing hormone deficiency panel Panel
By LifeLabs Genetics Kallmann syndrome/gonadotropin-releasing hormone deficiency panel that also includes the following genes: SEMA3A TAC3 TACR3 PROKR2 PROK2 CHD7 FGF8 FGFR1 GNRH1 GNRHR
More info about this panelHypogonadotropic Hypogonadism , Sequencing GNRHR Gene Panel
By Reference Laboratory Genetics
This panel specifically test the GNRHR gene.
More info about this panelKallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes Panel
By Reference Laboratory Genetics Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 PROKR2 PROK2 CHD7 NSMF POLR3B FGF8
More info about this panelPhosphorus Female Infertility Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Female Infertility Panel that also includes the following genes: BMP15 FOXL2 STAG3 ZP1 CAPN10 THADA NOBOX CYP11A1 CYP17A1 CYP19A1
More info about this panelTempus xO assay Panel
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 panelIsolated Gonadotropin-Releasing Hormone (GnRH) Deficiency: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency: gene sequencing panel that also includes the following genes: SOX10 TACR3 PROKR2 IL17RD CHD7 FGFR1 GNRHR ANOS1
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