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
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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

SOURCES: ORPHANET OMIM


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

ISG15 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ISG15 gene.

More info about this panel

Immunodeficiency type 38 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ISG15 gene.

More info about this panel

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

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

ISG15 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ISG15 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

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


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