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.

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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). Genetic Heterogeneity of Central Precocious PubertyCentral precocious puberty-2 (CPPB2 ) is caused by mutation in the MKRN3 gene (OMIM ) on chromosome 15q11.

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



More info about IDIOPATHIC CENTRAL PRECOCIOUS PUBERTY

SOURCES: ORPHANET

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


Potential gene panels for KISS1R gene

Normosmic Kallmann/IHH Evaluation Panel

United States.

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 panel

KISS1R DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the KISS1R gene.

More info about this panel

Anosmic Kallmann/IHH Evaluation Panel

United States.

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 panel

Complete Kallmann/IHH Evaluation Panel

United States.

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 panel

Abnormal/Ambiguous Genitalia Sequencing Panel Panel

United States.

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 panel

Hypogonadotropic Hypogonadism Sequencing Panel Panel

United States.

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 panel

Hypogonadotropic Hypogonadism Deletion/Duplication Panel Panel

United States.

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 panel

Kallmann Syndrome Sequencing Panel Panel

United States.

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 panel

Hypogonadotropic hypogonadism 8 with or without anosmia (sequence analysis of KISS1R gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KISS1R gene.

More info about this panel

Hypogonadism hypogonadotropic (NGS panel of 26 genes) Panel

Portugal.

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 panel

Hypogonadism hypogonadotropic (NGS panel of 26 genes) Panel

Portugal.

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 panel

Idiopathic Hypogonadotropic Hypogonadism (IHH) via KISS1R Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KISS1R gene.

More info about this panel

Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection Panel

United States.

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 panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

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 panel

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

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 panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

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 panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

United States.

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 panel

Ambiguous Genitalia Sequencing Panel with CNV Detection Panel

United States.

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 panel

Hypogonadotropic hypogonadism Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KISS1R gene.

More info about this panel

Polymicrogyria, bilateral frontoparietal Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the KISS1R gene.

More info about this panel

Polymicrogyria, bilateral frontoparietal Panel

Slovakia.

By MedGene

This panel specifically test the KISS1R gene.

More info about this panel

Hypogonadotropic hypogonadism:KISS1R gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the KISS1R gene.

More info about this panel

KALLMANN SYNDROME AND RELATED DISORDERS Panel

Spain.

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 panel

Endocrine Disorders: Sequencing Panel Panel

United States.

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 panel

Endocrine Disorders: Deletion/Duplication Panel Panel

United States.

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 panel

Kallmann Syndrome NGS Panel Panel

United States.

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 panel

Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel Panel

United States.

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 panel

KISS1R Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KISS1R gene.

More info about this panel

Kallmann Syndrome Panel Panel

Finland.

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 panel

Abnormal Genitalia/ Disorders of Sex Development Panel Panel

Finland.

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 panel

Central Precocious Puberty NGS and Deletion/Duplication Panel Panel

United States.

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 panel

KISS1R Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the KISS1R gene.

More info about this panel

NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Panel

Spain.

By Laboratorio de Genetica Clinica SL NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM that also includes the following genes: GNRHR KISS1R KISS1 LHB

More info about this panel

HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA (KALLLMAN SYNDROME) NGS PANEL Panel

Spain.

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 panel

Kallmann syndrome/gonadotropin-releasing hormone deficiency panel Panel

Canada.

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 panel

Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes Panel

Spain.

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 panel

Phosphorus Female Infertility Panel Panel

United States.

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 panel


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