DMRT3 gene related symptoms and diseases

All the information presented here about the DMRT3 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 DMRT3 gene

Symptoms // Phenotype % Cases
Cryptorchidism Very Common - Between 80% and 100% cases
Decreased testosterone in males Very Common - Between 80% and 100% cases
Gonadoblastoma Very Common - Between 80% and 100% cases
Absence of secondary sex characteristics Very Common - Between 80% and 100% cases
Decreased serum estradiol Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DMRT3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal vagina morphology
  • Elevated circulating luteinizing hormone level
  • Urogenital sinus anomaly
  • Decreased fertility in females
  • Primary gonadal insufficiency
  • Streak ovary
  • Sparse pubic hair
  • Hypoplasia of the vagina

And 30 more phenotypes, you can get all of them using our tools for rare diseases.


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Rare diseases associated to DMRT3 gene

Here you will find a list of rare diseases related to the DMRT3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

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


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



Potential gene panels for DMRT3 gene

DMRT3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DMRT3 gene.

More info about this panel

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