KISS1R gene related symptoms and diseases
All the information presented here about the KISS1R gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KISS1R gene
Symptoms // Phenotype | % Cases |
---|---|
Primary amenorrhea | Common - Between 50% and 80% cases |
Hypogonadotrophic hypogonadism | Common - Between 50% and 80% cases |
Cleft palate | Common - Between 50% and 80% cases |
Cryptorchidism | Common - Between 50% and 80% cases |
Delayed skeletal maturation | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with KISS1R gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Micropenis
- Decreased testicular size
- Gynecomastia
Not very common - Between 30% and 50% cases
- Sensorineural hearing impairment
- Breast hypoplasia
- Delayed puberty
- Anosmia
- Azoospermia
And 79 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KISS1R gene
Here you will find a list of rare diseases related to the KISS1R. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8
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 as well as a discussion of oligogenicity of this disorder, see {147950}.
Most common symptoms of HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8
- Hearing impairment
- Sensorineural hearing impairment
- Cleft palate
- Cryptorchidism
- Delayed skeletal maturation
More info about HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8
SOURCES: OMIM
KALLMANN SYNDROME
Alternate names
KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia, olfacto-genital pathological sequence
Description
Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).
Most common symptoms of KALLMANN SYNDROME
- Seizures
- Ataxia
- Nystagmus
- Sensorineural hearing impairment
- Muscle weakness
More info about KALLMANN SYNDROME
SOURCES: ORPHANET
PRECOCIOUS PUBERTY, CENTRAL, 1; CPPB1
Description
Early activation of the hypothalamic-pituitary-gonadal axis results in gonadotropin-dependent precocious puberty, also known as central precocious puberty, which is clinically defined by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Pubertal timing is influenced by complex interactions among genetic, nutritional, environmental, and socioeconomic factors. The timing of puberty is associated with risks of subsequent disease: earlier age of menarche in girls is associated with increased risk of breast cancer, endometrial cancer, obesity, type 2 diabetes, and cardiovascular disease. Central precocious puberty has also been associated with an increased incidence of conduct and behavior disorders during adolescence (summary by Abreu et al., 2013).
Most common symptoms of PRECOCIOUS PUBERTY, CENTRAL, 1; CPPB1
- Short stature
- Neoplasm
- Obesity
- Hypothyroidism
- Abnormality of the cardiovascular system
More info about PRECOCIOUS PUBERTY, CENTRAL, 1; CPPB1
SOURCES: OMIM
IDIOPATHIC CENTRAL PRECOCIOUS PUBERTY
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 KISS1R
Potential gene panels for KISS1R 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 panelKISS1R DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the KISS1R gene.
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 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 panelAbnormal/Ambiguous Genitalia Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41
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 8 with or without anosmia (sequence analysis of KISS1R gene) Panel
By CGC Genetics
This panel specifically test the KISS1R 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 KISS1R Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the KISS1R 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 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 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the KISS1R gene.
More info about this panelPolymicrogyria, bilateral frontoparietal Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the KISS1R gene.
More info about this panelPolymicrogyria, bilateral frontoparietal Panel
By MedGene
This panel specifically test the KISS1R gene.
More info about this panelHypogonadotropic hypogonadism:KISS1R gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the KISS1R 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 panelKISS1R Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KISS1R 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 panelCentral Precocious Puberty NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Central Precocious Puberty NGS and Deletion/Duplication Panel that also includes the following genes: KISS1R KISS1 LHCGR MKRN3
More info about this panelKISS1R 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 KISS1R 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 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
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