PSMC5 gene related symptoms and diseases
All the information presented here about the PSMC5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PSMC5 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 PSMC5 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 PSMC5 gene
Here you will find a list of rare diseases related to the PSMC5. 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
Search interest in PSMC5
Potential gene panels for PSMC5 gene
PSMC5 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PSMC5 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 NR3C1 ADD3 ABCC6 ELP1 SMAD2 PDCD10 CDHR1