STAT2 gene related symptoms and diseases

All the information presented here about the STAT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to STAT2 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Encephalitis Very Common - Between 80% and 100% cases
Fever Very Common - Between 80% and 100% cases
Myoclonus Uncommon - Between 30% and 50% cases
Stomatitis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with STAT2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormality of mitochondrial metabolism
  • Shock
  • Cerebral visual impairment
  • Chorea
  • Metabolic acidosis
  • Acidosis
  • Immunodeficiency
  • Encephalopathy

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to STAT2 gene

Here you will find a list of rare diseases related to the STAT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PRIMARY IMMUNODEFICIENCY WITH POST-MEASLES-MUMPS-RUBELLA VACCINE VIRAL INFECTION


Alternate names

PRIMARY IMMUNODEFICIENCY WITH POST-MEASLES-MUMPS-RUBELLA VACCINE VIRAL INFECTION Is also known as primary immunodeficiency with post-mmr vaccine viral infection

Description

Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.

Most common symptoms of PRIMARY IMMUNODEFICIENCY WITH POST-MEASLES-MUMPS-RUBELLA VACCINE VIRAL INFECTION

  • Seizures
  • Fever
  • Skin rash
  • Hepatitis
  • Lymphopenia


More info about PRIMARY IMMUNODEFICIENCY WITH POST-MEASLES-MUMPS-RUBELLA VACCINE VIRAL INFECTION

SOURCES: OMIM ORPHANET

IMMUNODEFICIENCY 44; IMD44


Description

Immunodeficiency-44 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015).

Most common symptoms of IMMUNODEFICIENCY 44; IMD44

  • Seizures
  • Spasticity
  • Visual impairment
  • Fever
  • Immunodeficiency


More info about IMMUNODEFICIENCY 44; IMD44

SOURCES: OMIM


Potential gene panels for STAT2 gene

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Invitae Mendelian Susceptibility to Mycobacterial Disease Panel Panel

United States.

By Invitae Invitae Mendelian Susceptibility to Mycobacterial Disease Panel that also includes the following genes: STAT1 STAT2 ACP5 TYK2 SAMHD1 IRAK4 ADAR CYBB ISG15 GATA2

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

STAT2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the STAT2 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

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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