GNRH1 gene related symptoms and diseases
All the information presented here about the GNRH1 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 GNRH1 gene
Symptoms // Phenotype | % Cases |
---|---|
Absence of secondary sex characteristics | Very Common - Between 80% and 100% cases |
Decreased testicular size | Very Common - Between 80% and 100% cases |
Decreased serum testosterone level | Very Common - Between 80% and 100% cases |
Hypoplasia of the uterus | Very Common - Between 80% and 100% cases |
Primary amenorrhea | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GNRH1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypogonadotrophic hypogonadism
- Delayed puberty
- Micropenis
- Cryptorchidism
- Cleft palate
- Hypoplasia of the ovary
Not very common - Between 30% and 50% cases
- Abnormality of the voice
- Male hypogonadism
And 34 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GNRH1 gene
Here you will find a list of rare diseases related to the GNRH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12
Alternate names
HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12 Is also known as figd, eunuchoidism, familial hypogonadotropic, gonadotropin deficiency, familial idiopathic
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 12 WITH OR WITHOUT ANOSMIA; HH12
- Hearing impairment
- Sensorineural hearing impairment
- Cleft palate
- Cryptorchidism
- Hypogonadism
More info about HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12
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 GNRH1
Potential gene panels for GNRH1 gene
GnRH1 DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the GNRH1 gene.
More info about this panelNormosmic 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 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 panelKallmann Syndrome Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Kallmann Syndrome Sequencing Panel that also includes the following genes: TAC3 TACR3 WDR11 PROKR2 IL17RD PROK2 CHD7 FEZF1 NSMF FGF17
More info about this panelHypogonadotropic hypogonadism 12 with or without anosmia (sequence analysis of GNRH1 gene) Panel
By CGC Genetics
This panel specifically test the GNRH1 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 GNRH1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the GNRH1 gene.
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 panelHypogonadotropic hypogonadism 12 with or without anosmia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GNRH1 gene.
More info about this panelHypogonadotropic hypogonadism: GNRH1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GNRH1 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 panelGNRH1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GNRH1 gene.
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 GNRH1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the GNRH1 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
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