TPP2 gene related symptoms and diseases

All the information presented here about the TPP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TPP2 gene

Symptoms // Phenotype % Cases
Splenomegaly Very Common - Between 80% and 100% cases
Respiratory tract infection Very Common - Between 80% and 100% cases
Autoimmunity Very Common - Between 80% and 100% cases
Stroke Very Common - Between 80% and 100% cases
Lymphadenopathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TPP2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hemolytic anemia
  • Hepatitis
  • Hemiparesis
  • Recurrent otitis media
  • Lymphopenia
  • Systemic lupus erythematosus
  • Autoimmune hemolytic anemia
  • Autoimmune thrombocytopenia

And 1 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TPP2 gene

Here you will find a list of rare diseases related to the TPP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME


Alternate names

AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME Is also known as tppii-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease, tppii deficiency, triangle disease, tripeptidyl-peptidase ii deficiency, evans syndrome associated with primary immunodeficien

Most common symptoms of AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME

  • Splenomegaly
  • Respiratory tract infection
  • Autoimmunity
  • Stroke
  • Lymphadenopathy


More info about AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME

SOURCES: ORPHANET


Potential gene panels for TPP2 gene

TPP2 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 TPP2 gene.

More info about this panel

Invitae Monogenic Autoimmunity Panel Panel

United States.

By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2

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

TPP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TPP2 gene.

More info about this panel


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