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.
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
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
Search interest in STAT2
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 Germany.
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 United States.
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 United States.
STAT2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the STAT2 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 United States.
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