RELA gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to RELA gene

Symptoms // Phenotype % Cases
Dysphagia Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
Gastroesophageal reflux Uncommon - Between 30% and 50% cases
Feeding difficulties in infancy Uncommon - Between 30% and 50% cases
Cough Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with RELA gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 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 RELA gene

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

EPENDYMOMA


Description

Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases.


More info about EPENDYMOMA

SOURCES: ORPHANET


Potential gene panels for RELA gene

RELA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RELA gene.

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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