ISG15 gene related symptoms and diseases
All the information presented here about the ISG15 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ISG15 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Immunodeficiency | Very Common - Between 80% and 100% cases |
| Lymphadenopathy | Very Common - Between 80% and 100% cases |
| Cerebral calcification | Very Common - Between 80% and 100% cases |
| Basal ganglia calcification | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ISG15 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Lymphadenitis
- Recurrent mycobacterial infections
Rare diseases associated to ISG15 gene
Here you will find a list of rare diseases related to the ISG15. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE ISG15 DEFICIENCY
Alternate names
MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE ISG15 DEFICIENCY Is also known as msmd due to complete isg15 deficiency, immunodeficiency 38, mycobacteriosis, autosomal recessive, isg15 deficiency, autosomal recessive
Description
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections.
Most common symptoms of MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE ISG15 DEFICIENCY
- Seizures
- Immunodeficiency
- Lymphadenopathy
- Cerebral calcification
- Basal ganglia calcification
More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE ISG15 DEFICIENCY
Search interest in ISG15
Potential gene panels for ISG15 gene
ISG15 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ISG15 gene.
More info about this panel United States.
ISG15 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ISG15 gene.
More info about this panel Germany.
Immunodeficiency type 38 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ISG15 gene.
More info about this panel Germany.
Defects of phagocytosis Panel Panel
Germany.
By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3
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.
ISG15 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ISG15 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.
Autoinflammatory Syndrome Panel Panel
Finland.
By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4
More info about this panel Finland.
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