PARP1 gene related symptoms and diseases
All the information presented here about the PARP1 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.
Top 5 symptoms and clinical features associated to PARP1 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 PARP1 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 PARP1 gene
Here you will find a list of rare diseases related to the PARP1. 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 PARP1
Potential gene panels for PARP1 gene
Mental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelPARP1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PARP1 gene.
More info about this panel152 Integrated Advantage NGS Solid Tumor Panel Panel
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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 CTSF PDE6B ESPN HSD3B1 TRHR PTCHD1 FCGR2C