NSMF gene related symptoms and diseases
All the information presented here about the NSMF gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NSMF gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Micropenis | Very Common - Between 80% and 100% cases |
| Cleft palate | Very Common - Between 80% and 100% cases |
| Decreased testicular size | Very Common - Between 80% and 100% cases |
| Gynecomastia | 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 NSMF gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Delayed skeletal maturation
- Sensorineural hearing impairment
- Delayed puberty
- Breast hypoplasia
- Cryptorchidism
- Primary amenorrhea
- Abnormality of the voice
- Osteoporosis
And 62 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NSMF gene
Here you will find a list of rare diseases related to the NSMF. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA; HH9
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 9 WITH OR WITHOUT ANOSMIA; HH9
- Hearing impairment
- Sensorineural hearing impairment
- Cleft palate
- Clinodactyly
- Osteoporosis
More info about HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA; HH9
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
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 NSMF
Potential gene panels for NSMF gene
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 United States.
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 United States.
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 United States.
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 United States.
Hypogonadotropic hypogonadism 9 with or without anosmia (sequence analysis of NSMF gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NSMF gene.
More info about this panel Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
Hypogonadotropic hypogonadism Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NSMF gene.
More info about this panel Germany.
Hypogonadotropic hypogonadism Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NSMF gene.
More info about this panel Germany.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
NSMF Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NSMF gene.
More info about this panel United States.
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 Spain.
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 Spain.
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