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.

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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

SOURCES: ORPHANET OMIM


Potential gene panels for POU2AF1 gene

POU2AF1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POU2AF1 gene.

More info about this panel

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

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


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