STK4 gene related symptoms and diseases
All the information presented here about the STK4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to STK4 gene
Symptoms // Phenotype | % Cases |
---|---|
Anemia | Very Common - Between 80% and 100% cases |
Combined immunodeficiency | Very Common - Between 80% and 100% cases |
Pulmonary insufficiency | Very Common - Between 80% and 100% cases |
Lymphoproliferative disorder | Very Common - Between 80% and 100% cases |
Verrucae | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with STK4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Recurrent viral infections
- B-cell lymphoma
- Chronic mucocutaneous candidiasis
- Right ventricular hypertrophy
- Autoimmune hemolytic anemia
- Increased antibody level in blood
- Patent foramen ovale
- Atrial septal defect
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to STK4 gene
Here you will find a list of rare diseases related to the STK4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY
Alternate names
COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency, cid due to stk4 deficiency, stk4 deficiency
Description
Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).
Most common symptoms of COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY
- Anemia
- Atrial septal defect
- Immunodeficiency
- Lymphadenopathy
- Hemolytic anemia
More info about COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY
Search interest in STK4
Potential gene panels for STK4 gene
STK4 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the STK4 gene.
More info about this panelSTK4 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the STK4 gene.
More info about this panelCombined immunodeficiencies Panel Panel
By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40
More info about this panelInvitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Panel
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 panelInvitae Primary Immunodeficiency Panel Panel
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 panelInvitae Combined Immunodeficiency (CID) Panel Panel
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 panelSTK4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the STK4 gene.
More info about this panelPrimary Immunodeficiency Panel Panel
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 panelSevere Combined Immunodeficiency Panel Panel
By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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