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.
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
Search interest in TPP2
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 United States.
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 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.
TPP2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TPP2 gene.
More info about this panel United States.
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