NR1I2 gene related symptoms and diseases
All the information presented here about the NR1I2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NR1I2 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 NR1I2 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
Rare diseases associated to NR1I2 gene
Here you will find a list of rare diseases related to the NR1I2. 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
Search interest in NR1I2
Potential gene panels for NR1I2 gene
NR1I2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NR1I2 gene.
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 PRKG2