POU2AF1 gene related symptoms and diseases
All the information presented here about the POU2AF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to POU2AF1 gene
Symptoms // Phenotype | % Cases |
---|---|
Hypertension | Very Common - Between 80% and 100% cases |
Conjugated hyperbilirubinemia | Very Common - Between 80% and 100% cases |
Celiac disease | Very Common - Between 80% and 100% cases |
Osteomalacia | Very Common - Between 80% and 100% cases |
Keratoconjunctivitis sicca | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with POU2AF1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of lipid metabolism
- Hepatocellular carcinoma
- Xerostomia
- Antinuclear antibody positivity
- Excessive daytime somnolence
- Allergy
- Cholangitis
- Abnormality of the thyroid gland
And 36 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to POU2AF1 gene
Here you will find a list of rare diseases related to the POU2AF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PRIMARY BILIARY CHOLANGITIS
Alternate names
PRIMARY BILIARY CHOLANGITIS Is also known as pbc, hanot syndrome, primary biliary cirrhosis
Description
Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.
Most common symptoms of PRIMARY BILIARY CHOLANGITIS
- Hypertension
- Fatigue
- Diarrhea
- Encephalopathy
- Osteoporosis
More info about PRIMARY BILIARY CHOLANGITIS
Search interest in POU2AF1
Potential gene panels for POU2AF1 gene
POU2AF1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the POU2AF1 gene.
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
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 AHCY BGN DHTKD1 CSMD2 BRWD3 WDR1 STON1-GTF2A1L