CEP72 gene related symptoms and diseases

All the information presented here about the CEP72 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CEP72 gene

Symptoms // Phenotype % Cases
Dysphagia Very Common - Between 80% and 100% cases
Obesity Very Common - Between 80% and 100% cases
Gastroesophageal reflux Very Common - Between 80% and 100% cases
Feeding difficulties in infancy Very Common - Between 80% and 100% cases
Cough Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CEP72 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Nausea and vomiting
  • Lymphadenopathy
  • Chest pain
  • Esophagitis
  • Clinodactyly of the 5th toe
  • Barrett esophagus
  • Esophageal ulceration
  • Esophageal carcinoma
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Rare diseases associated to CEP72 gene

Here you will find a list of rare diseases related to the CEP72. 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


Potential gene panels for CEP72 gene

CEP72 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CEP72 gene.

More info about this panel


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