NEDD9 gene related symptoms and diseases
All the information presented here about the NEDD9 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 NEDD9 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Respiratory distress | Very Common - Between 80% and 100% cases |
Blindness | Very Common - Between 80% and 100% cases |
Immunodeficiency | Very Common - Between 80% and 100% cases |
Hepatosplenomegaly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NEDD9 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Skin rash
- Shock
- Encephalitis
- Recurrent mycobacterial infections
- Herpes simplex encephalitis
Rare diseases associated to NEDD9 gene
Here you will find a list of rare diseases related to the NEDD9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS
Alternate names
SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS Is also known as immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive, stat1 deficiency, autosomal recessive, stat1 deficiency
Description
Susceptibility to viral and mycobacterial infections is a rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.
Most common symptoms of SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS
- Seizures
- Respiratory distress
- Blindness
- Immunodeficiency
- Hepatosplenomegaly
More info about SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS
Search interest in NEDD9
Potential gene panels for NEDD9 gene
NEDD9 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NEDD9 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 CLEC12B HNF1A COL18A1 NALCN CHSY1 FIBP PIGW