1. Mendelian
  2. Genes
  3. NEDD4

NEDD4 gene related symptoms and diseases

All the information presented here about the NEDD4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to NEDD4 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 NEDD4 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.

Rare diseases associated to NEDD4 gene

Here you will find a list of rare diseases related to the NEDD4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


STEVENS-JOHNSON SYNDROME

Alternate names

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

Description

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


More info about STEVENS-JOHNSON SYNDROME

SOURCES: MESH OMIM ORPHANET


Potential gene panels for NEDD4 gene

Liddle syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Liddle syndrome that also includes the following genes: SCNN1B SCNN1G STK39 NEDD4 NEDD4L NR3C2 OXSR1

More info about this panel
Germany.

NEDD4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NEDD4 gene.

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FSHB BPGM RECQL4 EPHB4 TBXT GNPTAB TWIST2