ANOS1 gene related symptoms and diseases

All the information presented here about the ANOS1 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 ANOS1 gene

Symptoms // Phenotype % Cases
Micropenis Very Common - Between 80% and 100% cases
Cryptorchidism Very Common - Between 80% and 100% cases
Gynecomastia Common - Between 50% and 80% cases
Decreased testicular size Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ANOS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Delayed puberty
  • Hypogonadotrophic hypogonadism
  • Not very common - Between 30% and 50% cases

  • Seizures
  • Bimanual synkinesia
  • Renal agenesis
  • Azoospermia
  • Ataxia
  • Primary amenorrhea

And 124 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ANOS1 gene

Here you will find a list of rare diseases related to the ANOS1. 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 1 WITH OR WITHOUT ANOSMIA; HH1


Alternate names

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism, hha, kallmann syndrome 1, dysplasia olfactogenitalis of de morsier, hypogonadotropic hypogonadism and anosmia, kms, kal1

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.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

Most common symptoms of HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

SOURCES: ORPHANET OMIM

SEPTOOPTIC DYSPLASIA


Alternate names

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Description

Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

Most common symptoms of SEPTOOPTIC DYSPLASIA

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


More info about SEPTOOPTIC DYSPLASIA

SOURCES: OMIM

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 ANOS1 gene

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

KAL1 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the ANOS1 gene.

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

Kallmann syndrome Panel

United States.

By Cytogenetics Laboratory SUNY Upstate Medical University

This panel specifically test the ANOS1 gene.

More info about this panel

KAL1 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the ANOS1 gene.

More info about this panel

KAL1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ANOS1 gene.

More info about this panel

KAL1. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ANOS1 gene.

More info about this panel

Kallmann syndrome (deletion/duplication analysis of KAL1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ANOS1 gene.

More info about this panel

Kallmann syndrome (sequence analysis of ANOS1/KAL1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ANOS1 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

Septooptic dysplasia (NGS panel for 17 genes) Panel

Portugal.

By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2

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

Septooptic dysplasia (NGS panel for 17 genes) Panel

Portugal.

By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2

More info about this panel

CHARGE and Kallmann Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics CHARGE and Kallmann Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SEMA3E CHD7 ANOS1

More info about this panel

Kallmann Syndrome via KAL1(ANOS1) Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ANOS1 gene.

More info about this panel

Kallmann Syndrome (KS) Sequencing Panel with CNV Detection Panel

United States.

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 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

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

Kallmann Syndrome 1 Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the ANOS1 gene.

More info about this panel

Kallmann syndrome type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ANOS1 gene.

More info about this panel

Kallmann syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ANOS1 gene.

More info about this panel

Kallmann syndrome Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum Kallmann syndrome that also includes the following genes: PROKR2 PROK2 CHD7 FGF8 FGFR1 ANOS1

More info about this panel

Kallmann syndrome 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ANOS1 gene.

More info about this panel

KAL1 Gene Sequencing Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the ANOS1 gene.

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

Kallmann syndrome 1 Panel

Slovakia.

By MedGene

This panel specifically test the ANOS1 gene.

More info about this panel

Invitae Isolated Gonadotropin-Releasing Hormone Deficiency Panel Panel

United States.

By Invitae Invitae Isolated Gonadotropin-Releasing Hormone Deficiency Panel that also includes the following genes: CHD7 FGFR1 ANOS1

More info about this panel

Kallmann syndrome type 1: KAL1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ANOS1 gene.

More info about this panel

Kallmann type 1, syndrome: KAL1 gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ANOS1 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

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

ANOS1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ANOS1 gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

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

Kallman syndrome, type 1 Panel

Spain.

By Bioarray

This panel specifically test the ANOS1 gene.

More info about this panel

Kallmann Syndrome NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Kallmann Syndrome NGS and Deletion/Duplication Panel that also includes the following genes: PROKR2 PROK2 CHD7 FGF8 FGFR1 GNRHR ANOS1

More info about this panel

ANOS1 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 ANOS1 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

KALLMANN SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL KALLMANN SYNDROME that also includes the following genes: PROKR2 PROK2 CHD7 FGF8 FGFR1 ANOS1

More info about this panel

KALLLMAN SYNDROME (HYPOGONADOTROPIC HYPOGONADISM) Panel

Spain.

By Laboratorio de Genetica Clinica SL KALLLMAN SYNDROME (HYPOGONADOTROPIC HYPOGONADISM) that also includes the following genes: PROKR2 PROK2 CHD7 FGF8 FGFR1 ANOS1

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

This panel specifically test the ANOS1 gene.

More info about this panel

Kallmann Syndrome Type 1, Sequencing ANOS1 (KAL1) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ANOS1 gene.

More info about this panel

Kallmann Syndrome Type 1, Deletions-Duplications (MLPA) KAL1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ANOS1 gene.

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

Kallmann syndrome Panel

Germany.

By Labor Dr. Wisplinghoff Kallmann syndrome that also includes the following genes: PROKR2 PROK2 FGFR1 ANOS1

More info about this panel

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency: gene sequencing panel Panel

Canada.

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

More info about this panel

Nonsyndromic disorders of sexual development: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic disorders of sexual development: gene sequencing panel that also includes the following genes: SRD5A2 STAR CBX2 CYP11A1 CYP17A1 AKR1C2 HSD17B3 HSD3B2 ANOS1 AR

More info about this panel


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