AKR1C4 gene related symptoms and diseases

All the information presented here about the AKR1C4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AKR1C4 gene

Symptoms // Phenotype % Cases
Cryptorchidism Very Common - Between 80% and 100% cases
Hernia Very Common - Between 80% and 100% cases
Amenorrhea Very Common - Between 80% and 100% cases
Ambiguous genitalia Very Common - Between 80% and 100% cases
Primary amenorrhea Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AKR1C4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Adrenal insufficiency
  • Hypoplasia of the uterus
  • Male pseudohermaphroditism
  • Sex reversal
  • Sparse pubic hair
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to AKR1C4 gene

Here you will find a list of rare diseases related to the AKR1C4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


46,XY DISORDER OF SEX DEVELOPMENT DUE TO TESTICULAR 17,20-DESMOLASE DEFICIENCY


Alternate names

46,XY DISORDER OF SEX DEVELOPMENT DUE TO TESTICULAR 17,20-DESMOLASE DEFICIENCY Is also known as male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase, tdd

Most common symptoms of 46,XY DISORDER OF SEX DEVELOPMENT DUE TO TESTICULAR 17,20-DESMOLASE DEFICIENCY

  • Cryptorchidism
  • Hernia
  • Amenorrhea
  • Ambiguous genitalia
  • Primary amenorrhea


More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO TESTICULAR 17,20-DESMOLASE DEFICIENCY

SOURCES: MESH OMIM ORPHANET


Potential gene panels for AKR1C4 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

46,XY sex reversal type 8, modifier of Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AKR1C4 gene.

More info about this panel

AKR1C4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AKR1C4 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PEX19 BCORL1 CNGB3 A2ML1 TUBA4A DMRT2 DYRK1A

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more