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

SOURCES: OMIM ORPHANET


Potential gene panels for STK4 gene

STK4 Deletion/duplication analysis 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 STK4 gene.

More info about this panel
United States.

STK4 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 STK4 gene.

More info about this panel
United States.

Combined immunodeficiencies Panel Panel

Germany.

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 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.

STK4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the STK4 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.

Severe Combined Immunodeficiency Panel Panel

Finland.

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 panel
Finland.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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