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.

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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

SOURCES: OMIM MESH

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 AKR1C2 gene

Abnormal/Ambiguous Genitalia Sequencing Panel Panel

United States.

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 panel

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel

United States.

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 panel

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel

United States.

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 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

AKR1C2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AKR1C2 gene.

More info about this panel

Nonsyndromic disorders of sexual development: gene sequencing panel Panel

Canada.

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 panel


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