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
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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

SOURCES: ORPHANET OMIM


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

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

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

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

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

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

CTPS1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CTPS1 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


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