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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM MESH


Potential gene panels for DMRT1 gene

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

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

DMRT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DMRT1 gene.

More info about this panel


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