POU5F1 gene related symptoms and diseases

All the information presented here about the POU5F1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to POU5F1 gene

Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Dysuria Very Common - Between 80% and 100% cases
Conjunctivitis Very Common - Between 80% and 100% cases
Pancreatitis Very Common - Between 80% and 100% cases
Eosinophilia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with POU5F1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Nephritis
  • Restrictive ventilatory defect
  • Macule
  • Corneal erosion
  • Acute hepatic failure
  • Abnormal myocardium morphology
  • Hepatitis
  • Entropion

And 30 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to POU5F1 gene

Here you will find a list of rare diseases related to the POU5F1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


STEVENS-JOHNSON SYNDROME

Alternate names

STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type

Description

Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.

Most common symptoms of STEVENS-JOHNSON SYNDROME

  • Anemia
  • Visual impairment
  • Fever
  • Fatigue
  • Dysphagia


More info about STEVENS-JOHNSON SYNDROME

SOURCES: MESH OMIM ORPHANET


Potential gene panels for POU5F1 gene

POU5F1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POU5F1 gene.

More info about this panel
United States.

Hemato-oncology chromosomal microarray Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2

More info about this panel
United States.

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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