1. Mendelian
  2. Rare Disease Genes
  3. AKR1C1

AKR1C1 gene related symptoms and diseases

All the information presented here about the AKR1C1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to AKR1C1 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Alopecia of scalp Very Common - Between 80% and 100% cases
Enlarged ovaries Very Common - Between 80% and 100% cases
Conjunctival hyperemia Very Common - Between 80% and 100% cases
Hypopnea Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AKR1C1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Frontal balding
  • Enlarged polycystic ovaries
  • Prostate cancer
  • Menstrual irregularities
  • Abnormality of the ovary
  • Adrenal hyperplasia
  • Prolactin excess
  • Increased reactive oxygen species production

And 19 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to AKR1C1 gene

Here you will find a list of rare diseases related to the AKR1C1. 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


Potential gene panels for AKR1C1 gene

AKR1C1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AKR1C1 gene.

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BIVM-ERCC5 HCFC1 EIF2B2 SLC39A14 SLC25A22 ADAM10