SRY gene related symptoms and diseases
All the information presented here about the SRY gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SRY gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hypospadias | Very Common - Between 80% and 100% cases |
| Polycystic ovaries | Common - Between 50% and 80% cases |
| Cryptorchidism | Common - Between 50% and 80% cases |
| Ovotestis | Common - Between 50% and 80% cases |
| Gynecomastia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SRY gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Ambiguous genitalia
- Urogenital sinus anomaly
Not very common - Between 30% and 50% cases
- Azoospermia
- Gonadal dysgenesis
- Micropenis
- True hermaphroditism
- Gonadoblastoma
- Sex reversal
And 100 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SRY gene
Here you will find a list of rare diseases related to the SRY. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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,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
45,X/46,XY MIXED GONADAL DYSGENESIS
Alternate names
45,X/46,XY MIXED GONADAL DYSGENESIS Is also known as 45,x0/46,xy mgd, 45,x0/46,xy mixed gonadal dysgenesis, 45,x/46,xy mgd
Description
45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.
Most common symptoms of 45,X/46,XY MIXED GONADAL DYSGENESIS
- Short stature
- Hearing impairment
- Scoliosis
- Nystagmus
- Micrognathia
More info about 45,X/46,XY MIXED GONADAL DYSGENESIS
SOURCES: ORPHANET
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
Search interest in SRY
Potential gene panels for SRY gene
SRY Molecular Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SRY gene.
More info about this panel United States.
SRY-Related 46,XY and 46,XY sex reversal and gonadal dysgenesis Panel
United States.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
This panel specifically test the SRY gene.
More info about this panel United States.
SRY-Related 46,XY DSD and 46,XY CGD - Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the SRY gene.
More info about this panel United States.
SRY-Related 46,XY DSD and 46,XY CGD - Del/Dup Analysis Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the SRY gene.
More info about this panel United States.
Sex Determination (SRY), DNA Analysis Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the SRY gene.
More info about this panel Canada.
Y Chromosome Deletion Testing Panel
United States.
By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
This panel specifically test the SRY gene.
More info about this panel United States.
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.
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 United States.
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 United States.
Sex Determining Y Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the SRY gene.
More info about this panel United States.
Y-microdeletion: DAZ/SRY Panel
United States.
By United States Air Force Molecular Diagnostic Laboratory United States Air Force Y-microdeletion: DAZ/SRY that also includes the following genes: SRY DAZ1
More info about this panel United States.
Y Microdeletion Testing Panel
United States.
By Michigan State University Clinical Genetics Laboratory Michigan State University Y Microdeletion Testing that also includes the following genes: SRY ZFY
More info about this panel United States.
46,XX testicular disorder of sex development Panel
United States.
By Cytogenetics Laboratory SUNY Upstate Medical University
This panel specifically test the SRY gene.
More info about this panel United States.
SRY-Related 46,XY DSD and 46,XY CGD Panel
United States.
By Cytogenetics Laboratory SUNY Upstate Medical University
This panel specifically test the SRY gene.
More info about this panel United States.
Prenatal SRY Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the SRY gene.
More info about this panel United States.
SRY Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the SRY gene.
More info about this panel United States.
46,XX Gonadal Dysgenesis Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SRY gene.
More info about this panel Spain.
SRY. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SRY gene.
More info about this panel Spain.
SRY. Presence or absence detection by PCR Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SRY gene.
More info about this panel Spain.
SRY. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SRY gene.
More info about this panel Spain.
SRY. Presence or absence detection by PCR Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SRY gene.
More info about this panel Spain.
46XX sex reversal 1 (sequence analysis of SRY gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SRY gene.
More info about this panel Portugal.
46,XY complete gonadal dysgenesis (sequence analysis of SRY) Panel
Portugal.
By CGC Genetics
This panel specifically test the SRY gene.
More info about this panel Portugal.
46,XY complete gonadal dysgenesis (sequence analysis of SRY) Panel
Portugal.
By CGC Genetics
This panel specifically test the SRY gene.
More info about this panel Portugal.
SRY-Related Disorders of Sex Development via SRY Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SRY gene.
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.
Y Chromosome Detection Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SRY gene.
More info about this panel Germany.
Y Chromosome Detection Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the SRY gene.
More info about this panel Germany.
Swyer syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SRY gene.
More info about this panel Austria.
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 Spain.
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 Spain.
Swyer syndrome Panel
Slovakia.
By MedGene
This panel specifically test the SRY gene.
More info about this panel Slovakia.
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 United States.
SRY: SRY gene deletions analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SRY gene.
More info about this panel Spain.
SRY: SRY gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SRY gene.
More info about this panel Spain.
Y-Chromosome Analysis Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SRY gene.
More info about this panel United States.
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 United States.
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 Finland.
46,XY complete gonadal dysgenesis Panel
Spain.
By Bioarray
This panel specifically test the SRY gene.
More info about this panel Spain.
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 United States.
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 United States.
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 Spain.
46XX Sex Reversal Type 1 , Sequencing SRY Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SRY gene.
More info about this panel Spain.
46XY Sex Reversal Type 1 , Sequencing SRY Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SRY gene.
More info about this panel Spain.
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 Spain.
SRY-related 46,XY complete gonadal dysgenesis Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the SRY gene.
More info about this panel Germany.
Phosphorus Male Infertility Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Male Infertility Panel that also includes the following genes: SRY AURKC USP9Y CATSPER1 CFTR DPY19L2 FSHB FSHR AR LHCGR
More info about this panel United States.
Y-Chromosome: SRY Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SRY gene.
More info about this panel Canada.
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 Canada.
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