CTPS1 gene related symptoms and diseases
All the information presented here about the CTPS1 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 CTPS1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Immunodeficiency | Very Common - Between 80% and 100% cases |
| Lymphoma | Very Common - Between 80% and 100% cases |
| Lymphopenia | Very Common - Between 80% and 100% cases |
| Hodgkin lymphoma | Very Common - Between 80% and 100% cases |
| Decreased proportion of CD4-positive T cells | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CTPS1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Severe viral infections
- Immunoglobulin IgG2 deficiency
- Defective T cell proliferation
Rare diseases associated to CTPS1 gene
Here you will find a list of rare diseases related to the CTPS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SEVERE COMBINED IMMUNODEFICIENCY DUE TO CTPS1 DEFICIENCY
Alternate names
SEVERE COMBINED IMMUNODEFICIENCY DUE TO CTPS1 DEFICIENCY Is also known as scid due to ctps1 deficiency
Description
Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella)), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.
Most common symptoms of SEVERE COMBINED IMMUNODEFICIENCY DUE TO CTPS1 DEFICIENCY
- Immunodeficiency
- Lymphoma
- Lymphopenia
- Hodgkin lymphoma
- Decreased proportion of CD4-positive T cells
More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO CTPS1 DEFICIENCY
Search interest in CTPS1
Potential gene panels for CTPS1 gene
Immunodeficiency type 24 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CTPS1 gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Panel
United States.
By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3D CD3E CD3G
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.
Invitae Combined Immunodeficiency (CID) Panel Panel
United States.
By Invitae Invitae Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3G CD8A LRBA
More info about this panel United States.
CTPS1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CTPS1 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.
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