IRF1 gene related symptoms and diseases

All the information presented here about the IRF1 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 IRF1 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Carcinoma Very Common - Between 80% and 100% cases
Neoplasm of the lung Very Common - Between 80% and 100% cases
Respiratory distress Uncommon - Between 30% and 50% cases
Small cell lung carcinoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with IRF1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Helicobacter pylori infection
  • Neoplasm of the stomach
  • Chronic atrophic gastritis
  • Retinoblastoma
  • Gastritis
  • Stomach cancer
  • Colon cancer
  • Nephroblastoma

And 15 more phenotypes, you can get all of them using our tools for rare diseases.


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Rare diseases associated to IRF1 gene

Here you will find a list of rare diseases related to the IRF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.



Lung cancer is the leading cause of cancer deaths in the U.S. and worldwide. The 2 major forms of lung cancer are nonsmall cell lung cancer and small cell lung cancer (see {182280}), which account for 85% and 15% of all lung cancers, respectively. Nonsmall cell lung cancer can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. Cigarette smoking causes all types of lung cancer, but it is most strongly linked with small cell lung cancer and squamous cell carcinoma. Adenocarcinoma is the most common type in patients who have never smoked. Nonsmall cell lung cancer is often diagnosed at an advanced stage and has a poor prognosis (summary by Herbst et al., 2008).

Most common symptoms of LUNG CANCER

  • Neoplasm
  • Pain
  • Fatigue
  • Respiratory distress
  • Diarrhea

More info about LUNG CANCER




In a review article on the genetic predisposition to gastric cancer, Bevan and Houlston (1999) concluded that several genes may be associated with an increased risk of gastric cancer.Gastric cancer is a manifestation of a number of inherited cancer predisposition syndromes, including hereditary nonpolyposis colon cancer (HNPCC1; see {120435}), familial adenomatous polyposis (FAP ), Peutz-Jeghers syndrome (PJS ), Cowden disease (CD ), and the Li-Fraumeni syndrome (OMIM ). See also hereditary diffuse gastric cancer (HDGC ).Canedo et al. (2007) provided a review of genetic susceptibility to gastric cancer in patients infected with Helicobacter pylori (see {600263}).

Most common symptoms of GASTRIC CANCER

  • Neoplasm
  • Carcinoma
  • Nephroblastoma
  • Colon cancer
  • Neoplasm of the lung

More info about GASTRIC CANCER


Potential gene panels for IRF1 gene

IRF1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IRF1 gene.

More info about this panel

FoundationOneĀ® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOneĀ® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

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