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
Search interest in POU5F1
Potential gene panels for POU5F1 gene
POU5F1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the POU5F1 gene.
More info about this panelHemato-oncology chromosomal microarray Panel
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 panelCaris MI TumorSeek 592-Gene NGS Panel Panel
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 panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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