ELMO1 gene related symptoms and diseases

All the information presented here about the ELMO1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ELMO1 gene

Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Dysuria Very Common - Between 80% and 100% cases
Conjunctivitis Very Common - Between 80% and 100% cases
Pancreatitis Very Common - Between 80% and 100% cases
Eosinophilia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ELMO1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Nephritis
  • Restrictive ventilatory defect
  • Macule
  • Corneal erosion
  • Acute hepatic failure
  • Abnormal myocardium morphology
  • Hepatitis
  • Entropion

And 30 more phenotypes, you can get all of them using our tools for rare diseases.


Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to ELMO1 gene

Here you will find a list of rare diseases related to the ELMO1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type


Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.

Most common symptoms of STEVENS-JOHNSON SYNDROME

  • Anemia
  • Visual impairment
  • Fever
  • Fatigue
  • Dysphagia



Potential gene panels for ELMO1 gene

ELMO1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ELMO1 gene.

More info about this panel

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TYMS RUBCN PLG ZNF750 MSTN

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian

Learn more