NR5A1 gene related symptoms and diseases

All the information presented here about the NR5A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NR5A1 gene

Symptoms // Phenotype % Cases
Ambiguous genitalia Common - Between 50% and 80% cases
Azoospermia Uncommon - Between 30% and 50% cases
Sex reversal Uncommon - Between 30% and 50% cases
Hypoplasia of the uterus Uncommon - Between 30% and 50% cases
Clitoral hypertrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NR5A1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hypospadias
  • Gonadal dysgenesis
  • Decreased testicular size
  • Polycystic ovaries
  • Primary amenorrhea
  • Ovotestis
  • Elevated circulating follicle stimulating hormone level
  • Rarely - Less than 30% cases

  • True hermaphroditism

And 90 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NR5A1 gene

Here you will find a list of rare diseases related to the NR5A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPERMATOGENIC FAILURE 8; SPGF8


Most common symptoms of SPERMATOGENIC FAILURE 8; SPGF8

  • Azoospermia
  • Cryptozoospermia


More info about SPERMATOGENIC FAILURE 8; SPGF8

SOURCES: OMIM

46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT


Alternate names

46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT Is also known as de la chapelle syndrome, 46,xx testicular dsd, xx, male syndrome

Description

46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.

Most common symptoms of 46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT

  • Decreased testicular size
  • Ambiguous genitalia
  • Polycystic ovaries
  • Male hypogonadism


More info about 46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT

SOURCES: ORPHANET

46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT


Alternate names

46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT Is also known as 46,xx gonadal dysgenesis, complete, sry-positive, 46,xx testicular disorder of sex development, 46,xx ovotesticular dsd, xx male, sry-positive, 46,xx sex reversal, sry-positive

Description

46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.

Most common symptoms of 46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT

  • Cryptorchidism
  • Hypospadias
  • Hypogonadism
  • Hypoplasia of penis
  • Ambiguous genitalia


More info about 46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT

SOURCES: ORPHANET OMIM

46,XX SEX REVERSAL 2; SRXX2


Alternate names

46,XX SEX REVERSAL 2; SRXX2 Is also known as chromosome 17q24 duplication syndrome

Most common symptoms of 46,XX SEX REVERSAL 2; SRXX2

  • Pain
  • Cryptorchidism
  • Abnormality of the skeletal system
  • Hypospadias
  • Micropenis


More info about 46,XX SEX REVERSAL 2; SRXX2

SOURCES: OMIM

46,XX GONADAL DYSGENESIS


Alternate names

46,XX GONADAL DYSGENESIS Is also known as xx female gonadal dysgenesis, 46,xx pure gonadal dysgenesis, 46,xx complete gonadal dysgenesis, follicular stimulating hormone-resistant ovaries, hypergonadotropic ovarian dysgenesis, xx-gd, 46,xx ovarian dysgenesis, fsh-ro

Description

46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

Most common symptoms of 46,XX GONADAL DYSGENESIS

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Abnormality of metabolism/homeostasis


More info about 46,XX GONADAL DYSGENESIS

SOURCES: ORPHANET

46,XY COMPLETE GONADAL DYSGENESIS


Alternate names

46,XY COMPLETE GONADAL DYSGENESIS Is also known as 46,xy sex reversal, sry-related, 46,xy pure gonadal dysgenesis, 46,xy gonadal dysgenesis, complete, sry-related, 46,xy cgd, swyer syndrome

Description

46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.

Most common symptoms of 46,XY COMPLETE GONADAL DYSGENESIS

  • Neoplasm
  • Hypospadias
  • Infertility
  • Amenorrhea
  • Primary amenorrhea


More info about 46,XY COMPLETE GONADAL DYSGENESIS

SOURCES: OMIM ORPHANET

PREMATURE OVARIAN FAILURE 7; POF7


Most common symptoms of PREMATURE OVARIAN FAILURE 7; POF7

  • Generalized hypotonia
  • Muscular hypotonia
  • Vomiting
  • Jaundice
  • Hypoglycemia


More info about PREMATURE OVARIAN FAILURE 7; POF7

SOURCES: OMIM MESH

46,XY SEX REVERSAL 3; SRXY3


Alternate names

46,XY SEX REVERSAL 3; SRXY3 Is also known as disorder of sex development, 46,xy, nr5a1-related, 46,xy sex reversal, partial or complete, nr5a1-related, 46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure, sex reversal, xy, with or without adrenal failure

Most common symptoms of 46,XY SEX REVERSAL 3; SRXY3

  • Ambiguous genitalia
  • Clitoral hypertrophy
  • Hypoplasia of the uterus
  • Gonadal dysgenesis
  • Adrenal hyperplasia


More info about 46,XY SEX REVERSAL 3; SRXY3

SOURCES: OMIM

46,XX SEX REVERSAL 4; SRXX4


Alternate names

46,XX SEX REVERSAL 4; SRXX4 Is also known as 46,xx sex reversal, sry-negative

Most common symptoms of 46,XX SEX REVERSAL 4; SRXX4

  • Hypospadias
  • Hypogonadism
  • Micropenis
  • Decreased testicular size
  • Ambiguous genitalia


More info about 46,XX SEX REVERSAL 4; SRXX4

SOURCES: OMIM

46,XY PARTIAL GONADAL DYSGENESIS


Alternate names

46,XY PARTIAL GONADAL DYSGENESIS Is also known as 46,xy partial testicular dysgenesis, 46,xy pgd

Description

46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.

Most common symptoms of 46,XY PARTIAL GONADAL DYSGENESIS

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Hypospadias
  • Delayed skeletal maturation
  • Osteoporosis


More info about 46,XY PARTIAL GONADAL DYSGENESIS

SOURCES: ORPHANET

MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION


Description

Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.

Most common symptoms of MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION

  • Decreased testicular size
  • Azoospermia
  • Increased circulating gonadotropin level
  • Abnormal spermatogenesis
  • Obstructive azoospermia


More info about MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION

SOURCES: ORPHANET


Potential gene panels for NR5A1 gene

Ovarian Insufficiency Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the NR5A1 gene.

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

Premature Ovarian Failure Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Premature Ovarian Failure Sequencing Panel that also includes the following genes: BMP15 FOXL2 MCM8 PSMC3IP HFM1 NOBOX FIGLA FSHR LMNA NR5A1

More info about this panel

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel that also includes the following genes: SOX9 SRD5A2 SRY WT1 ZFPM2 ARX B3GLCT MAMLD1 CYB5A CYP11A1

More info about this panel

Hypospadias Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2

More info about this panel

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel that also includes the following genes: SOX9 SRD5A2 SRY WT1 ZFPM2 ARX B3GLCT MAMLD1 CYB5A CYP11A1

More info about this panel

46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago 46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel that also includes the following genes: WNT4 WT1 PSMC3IP B3GLCT RSPO1 CYP11B1 CYP19A1 HCCS NR5A1

More info about this panel

Premature Ovarian Failure Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Premature Ovarian Failure Deletion/Duplication Panel that also includes the following genes: BMP15 FOXL2 MCM8 PSMC3IP HFM1 NOBOX FIGLA FSHR LMNA NR5A1

More info about this panel

NR5A1 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the NR5A1 gene.

More info about this panel

NR5A1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NR5A1 gene.

More info about this panel

Spermatogenic failure 8 (SPGF8, sequence analysis of NR5A1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NR5A1 gene.

More info about this panel

Hypospadias Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4

More info about this panel

NR5A1-Related Disorders via NR5A1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NR5A1 gene.

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

Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection that also includes the following genes: BMP15 FOXL2 STAG3 MCM8 PSMC3IP HFM1 CLPP MCM9 NOBOX FIGLA

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

NR5A1 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the NR5A1 gene.

More info about this panel

SPGF8 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NR5A1 gene.

More info about this panel

46XY sex reversal 3 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the NR5A1 gene.

More info about this panel

Premature ovarian failure 7 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the NR5A1 gene.

More info about this panel

Spermatogenic failure 8 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the NR5A1 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

qGenEx Sex development disorders Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1

More info about this panel

46XY sex reversal 3 Panel

Slovakia.

By MedGene

This panel specifically test the NR5A1 gene.

More info about this panel

Premature ovarian failure 7 Panel

Slovakia.

By MedGene

This panel specifically test the NR5A1 gene.

More info about this panel

Spermatogenic failure 8 Panel

Slovakia.

By MedGene

This panel specifically test the NR5A1 gene.

More info about this panel

Invitae Disorders of Male Sex Development Panel Panel

United States.

By Invitae Invitae Disorders of Male Sex Development Panel that also includes the following genes: SRD5A2 SRY WT1 DHH AR MAP3K1 NR0B1 NR5A1

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

NR5A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NR5A1 gene.

More info about this panel

Premature Ovarian Failure Panel Panel

Finland.

By Blueprint Genetics Premature Ovarian Failure Panel that also includes the following genes: BMP15 FOXL2 STAR WT1 NOBOX CYP17A1 CYP19A1 FSHR GALT GNAS

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

46,XY complete gonadal dysgenesis Panel

Spain.

By Bioarray

This panel specifically test the NR5A1 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

GONADAL DYSGENESIS Panel

Spain.

By Laboratorio de Genetica Clinica SL GONADAL DYSGENESIS that also includes the following genes: SRY NR5A1

More info about this panel

46 XX Sex Reversal Type 4 , Sequencing NR5A1 Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NR5A1 gene.

More info about this panel

46 XY Sex Reversal Type 3 , Sequencing NR5A1 Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NR5A1 gene.

More info about this panel

Premature Ovarian Failure (POF) and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes Panel

Spain.

By Reference Laboratory Genetics Premature Ovarian Failure (POF) and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: BMP15 FOXL2 STAR WNT4 POF1B PSMC3IP NOBOX FIGLA CYP17A1 CYP19A1

More info about this panel

Gonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2 Panel

Spain.

By Reference Laboratory Genetics Gonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2 that also includes the following genes: SRY DHH AK2 NR5A1

More info about this panel

Spermatogenic Failure , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Spermatogenic Failure , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: AURKC USP9Y CATSPER1 SYCP3 KLHL10 DPY19L2 SEPT12 SPATA16 NR5A1

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

Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis that also includes the following genes: BMP15 FOXL2 POF1B PSMC3IP HFM1 NOBOX FIGLA CYP17A1 CYP19A1 DIAPH2

More info about this panel

Nonsyndromic Disorders of Testicular Development: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Disorders of Testicular Development: gene sequencing panel that also includes the following genes: SRY DHH MAP3K1 NR5A1

More info about this panel


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