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.
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
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
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
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
Search interest in NR5A1
Potential gene panels for NR5A1 gene
Ovarian Insufficiency Panel
By Center for Human Genetics, Inc
This panel specifically test the NR5A1 gene.
More info about this panelAbnormal/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 panelPremature Ovarian Failure Sequencing Panel Panel
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 panel46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel
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 panelHypospadias Sequencing Panel Panel
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 panel46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel
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 panel46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel
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 panelPremature Ovarian Failure Deletion/Duplication Panel Panel
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 panelNR5A1 Gene Sequencing Panel
By GeneDx
This panel specifically test the NR5A1 gene.
More info about this panelNR5A1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NR5A1 gene.
More info about this panelSpermatogenic failure 8 (SPGF8, sequence analysis of NR5A1 gene) Panel
By CGC Genetics
This panel specifically test the NR5A1 gene.
More info about this panelHypospadias Sequencing Panel with CNV Detection Panel
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 panelNR5A1-Related Disorders via NR5A1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the NR5A1 gene.
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 panelPremature Ovarian Failure (POF) Sequencing Panel with CNV Detection Panel
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 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 panelNR5A1 Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the NR5A1 gene.
More info about this panelSPGF8 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the NR5A1 gene.
More info about this panel46XY sex reversal 3 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the NR5A1 gene.
More info about this panelPremature ovarian failure 7 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the NR5A1 gene.
More info about this panelSpermatogenic failure 8 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the NR5A1 gene.
More info about this panelqChip Panel
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 panelqGenEx Sex development disorders Panel
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 panel46XY sex reversal 3 Panel
By MedGene
This panel specifically test the NR5A1 gene.
More info about this panelPremature ovarian failure 7 Panel
By MedGene
This panel specifically test the NR5A1 gene.
More info about this panelSpermatogenic failure 8 Panel
By MedGene
This panel specifically test the NR5A1 gene.
More info about this panelInvitae Disorders of Male Sex Development Panel Panel
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 panelEndocrine Disorders: Sequencing Panel Panel
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 panelEndocrine Disorders: Deletion/Duplication Panel Panel
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 panelNR5A1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NR5A1 gene.
More info about this panelPremature Ovarian Failure Panel Panel
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 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 panel46,XY complete gonadal dysgenesis Panel
By Bioarray
This panel specifically test the NR5A1 gene.
More info about this panelRapid microarray (CGH and SNP) Panel
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 panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
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 panelGONADAL DYSGENESIS Panel
By Laboratorio de Genetica Clinica SL GONADAL DYSGENESIS that also includes the following genes: SRY NR5A1
More info about this panel46 XX Sex Reversal Type 4 , Sequencing NR5A1 Panel
By Reference Laboratory Genetics
This panel specifically test the NR5A1 gene.
More info about this panel46 XY Sex Reversal Type 3 , Sequencing NR5A1 Panel
By Reference Laboratory Genetics
This panel specifically test the NR5A1 gene.
More info about this panelPremature Ovarian Failure (POF) and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes Panel
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 panelGonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2 Panel
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 panelSpermatogenic Failure , Panel Massive Sequencing (NGS) 9 Genes Panel
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 panelPhosphorus Female Infertility Panel Panel
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 panelPremature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis Panel
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 panelNonsyndromic Disorders of Testicular Development: gene sequencing panel Panel
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
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