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PTGS2 gene related symptoms and diseases

All the information presented here about the PTGS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to PTGS2 gene

Symptoms // Phenotype % Cases
Dysphagia Uncommon - Between 30% and 50% cases
Esophageal ulceration Uncommon - Between 30% and 50% cases
Abnormal oral cavity morphology Uncommon - Between 30% and 50% cases
Abnormality of the pharynx Uncommon - Between 30% and 50% cases
Cheilitis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PTGS2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Trismus
  • Narrow mouth
  • Flexion contracture
  • Esophageal carcinoma
  • Barrett esophagus
  • Obesity
  • Clinodactyly of the 5th toe
  • Esophagitis

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PTGS2 gene

Here you will find a list of rare diseases related to the PTGS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ADENOCARCINOMA OF THE ESOPHAGUS

Alternate names

ADENOCARCINOMA OF THE ESOPHAGUS Is also known as esophageal adenocarcinoma, barrett metaplasia

Description

Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.

Most common symptoms of ADENOCARCINOMA OF THE ESOPHAGUS

  • Dysphagia
  • Obesity
  • Gastroesophageal reflux
  • Feeding difficulties in infancy
  • Cough


More info about ADENOCARCINOMA OF THE ESOPHAGUS

SOURCES: OMIM MESH ORPHANET

ORAL SUBMUCOUS FIBROSIS

Alternate names

ORAL SUBMUCOUS FIBROSIS Is also known as osmf

Description

Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.

Most common symptoms of ORAL SUBMUCOUS FIBROSIS

  • Flexion contracture
  • Narrow mouth
  • Trismus
  • Cheilitis
  • Abnormality of the pharynx


More info about ORAL SUBMUCOUS FIBROSIS

SOURCES: MESH ORPHANET


Potential gene panels for PTGS2 gene

PTGS2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PTGS2 gene.

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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