ATP6V1G2-DDX39B gene related symptoms and diseases
All the information presented here about the ATP6V1G2-DDX39B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATP6V1G2-DDX39B 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 ATP6V1G2-DDX39B 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 ATP6V1G2-DDX39B gene
Here you will find a list of rare diseases related to the ATP6V1G2-DDX39B. 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
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