AKR1C2 gene related symptoms and diseases
All the information presented here about the AKR1C2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AKR1C2 gene
Symptoms // Phenotype | % Cases |
---|---|
Amenorrhea | Very Common - Between 80% and 100% cases |
Neoplasm | Uncommon - Between 30% and 50% cases |
Beta-cell dysfunction | Uncommon - Between 30% and 50% cases |
Menstrual irregularities | Uncommon - Between 30% and 50% cases |
Prostate cancer | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with AKR1C2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Enlarged polycystic ovaries
- Frontal balding
- Hypopnea
- Conjunctival hyperemia
- Enlarged ovaries
- Cryptorchidism
- Adrenal hyperplasia
- Hernia
And 28 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AKR1C2 gene
Here you will find a list of rare diseases related to the AKR1C2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
POLYCYSTIC OVARY SYNDROME 1; PCOS1
Alternate names
POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos
Description
a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance
Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1
- Neoplasm
- Abnormality of metabolism/homeostasis
- Obesity
- Diabetes mellitus
- Apnea
More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1
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 AKR1C2
Potential gene panels for AKR1C2 gene
Abnormal/Ambiguous Genitalia Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41
More info about this panel46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel that also includes the following genes: SOX9 SRD5A2 SRY WT1 ZFPM2 ARX B3GLCT MAMLD1 CYB5A CYP11A1
More info about this panel46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel that also includes the following genes: SOX9 SRD5A2 SRY WT1 ZFPM2 ARX B3GLCT MAMLD1 CYB5A CYP11A1
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 panelAKR1C2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AKR1C2 gene.
More info about this panelNonsyndromic disorders of sexual development: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic disorders of sexual development: gene sequencing panel that also includes the following genes: SRD5A2 STAR CBX2 CYP11A1 CYP17A1 AKR1C2 HSD17B3 HSD3B2 ANOS1 AR
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 CLEC12B TMEM173 AGGF1 UBA5 SMAD2 FLRT1 FOXE1