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
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
Search interest in AKR1C4
Potential gene panels for AKR1C4 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 panel46,XY sex reversal type 8, modifier of Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the AKR1C4 gene.
More info about this panelAKR1C4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AKR1C4 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KCNT1 SGCB NDUFA1 CSMD2 FLRT1 CHAT ACER3