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.

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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

SOURCES: MESH OMIM ORPHANET


Potential gene panels for PARP1 gene

Mental retardation - different panels Panel

Germany.

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 panel

Nuclear-Mito NGS Panel Panel

United States.

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 panel

PARP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PARP1 gene.

More info about this panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

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 panel

Tempus xO assay Panel

United States.

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 panel


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