IL17RD gene related symptoms and diseases
All the information presented here about the IL17RD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IL17RD gene
Symptoms // Phenotype | % Cases |
---|---|
Cleft palate | Very Common - Between 80% and 100% cases |
Sensorineural hearing impairment | Very Common - Between 80% and 100% cases |
Anosmia | Very Common - Between 80% and 100% cases |
Seizures | Uncommon - Between 30% and 50% cases |
Anterior hypopituitarism | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with IL17RD gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Gynecomastia
- Hypogonadotrophic hypogonadism
- Reduced bone mineral density
- Reduced number of teeth
- Abnormality of the voice
- Abnormality of color vision
- Decreased fertility
- Hyposmia
And 36 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IL17RD gene
Here you will find a list of rare diseases related to the IL17RD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18
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 18 WITH OR WITHOUT ANOSMIA; HH18
- Hearing impairment
- Sensorineural hearing impairment
- Cleft palate
- Abnormality of the dentition
- Osteoporosis
More info about HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18
SOURCES: OMIM
Search interest in IL17RD
Potential gene panels for IL17RD gene
Abnormal/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 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 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 panelIL17RD Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IL17RD gene.
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 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 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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