DMRT1 gene related symptoms and diseases
All the information presented here about the DMRT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DMRT1 gene
Symptoms // Phenotype | % Cases |
---|---|
Gonadal dysgenesis | Very Common - Between 80% and 100% cases |
Sex reversal | Very Common - Between 80% and 100% cases |
Gonadoblastoma | Uncommon - Between 30% and 50% cases |
Hypergonadotropic hypogonadism | Uncommon - Between 30% and 50% cases |
Ambiguous genitalia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with DMRT1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Decreased testicular size
- Hypogonadism
- Cryptorchidism
- True hermaphroditism
- Ovotestis
- Testicular dysgenesis
- Abnormality of female external genitalia
- Perineal hypospadias
And 15 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DMRT1 gene
Here you will find a list of rare diseases related to the DMRT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
46,XY SEX REVERSAL 4; SRXY4
Alternate names
46,XY SEX REVERSAL 4; SRXY4 Is also known as 46,xy gonadal dysgenesis, partial or complete, with 9p24.3 deletion, chromosome 9p24.3 deletion syndrome
Description
Sex reversal in an individual associated with a 9p24.3 deletion.
Most common symptoms of 46,XY SEX REVERSAL 4; SRXY4
- Cryptorchidism
- Hypogonadism
- Decreased testicular size
- Ambiguous genitalia
- Hypergonadotropic hypogonadism
More info about 46,XY SEX REVERSAL 4; SRXY4
Search interest in DMRT1
Potential gene panels for DMRT1 gene
Female 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 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 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 panelDMRT1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DMRT1 gene.
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