ITK gene related symptoms and diseases

All the information presented here about the ITK gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ITK gene

Symptoms // Phenotype % Cases
Anemia Uncommon - Between 30% and 50% cases
Pleural effusion Uncommon - Between 30% and 50% cases
Generalized lymphadenopathy Uncommon - Between 30% and 50% cases
Granulomatosis Uncommon - Between 30% and 50% cases
Hemophagocytosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ITK gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Histiocytosis
  • Recurrent aphthous stomatitis
  • Stomatitis
  • Immune dysregulation
  • Lymphoproliferative disorder
  • Pulmonary infiltrates
  • IgG deficiency
  • Hodgkin lymphoma

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ITK gene

Here you will find a list of rare diseases related to the ITK. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1


Description

Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Most common symptoms of LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

SOURCES: OMIM MESH

AUTOSOMAL RECESSIVE LYMPHOPROLIFERATIVE DISEASE


Alternate names

AUTOSOMAL RECESSIVE LYMPHOPROLIFERATIVE DISEASE Is also known as cd27 deficiency

Description

Autosomal recessive lymphoproliferative disease is a rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.


More info about AUTOSOMAL RECESSIVE LYMPHOPROLIFERATIVE DISEASE

SOURCES: ORPHANET


Potential gene panels for ITK gene

ITK 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 ITK gene.

More info about this panel

Autoimmune Lymphoproliferative Syndrome Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Autoimmune Lymphoproliferative Syndrome Panel by next-generation sequencing (NGS) that also includes the following genes: FAS FASLG CASP10 CASP8 MAGT1 FADD ITK KRAS NRAS

More info about this panel

Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS) that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 GATA2 AP3B1

More info about this panel

Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel that also includes the following genes: FAS FASLG CASP10 CASP8 MAGT1 FADD ITK KRAS NRAS

More info about this panel

Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 AP3B1 XIAP

More info about this panel

ITK 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 ITK gene.

More info about this panel

Tier 2: Hereditary Lymphoma and Immunodeficiency Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Tier 2: Hereditary Lymphoma and Immunodeficiency Panel that also includes the following genes: BLM SH2D1A BRCA1 BRCA2 STXBP2 FAS CD27 FASLG WAS IKZF1

More info about this panel

ITK Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ITK gene.

More info about this panel

Hereditary Breast, Ovarian, and Endometrial Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Breast, Ovarian, and Endometrial Cancer Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 WRN CDH1 BRIP1 PALB2

More info about this panel

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel

Lymphoproliferative syndrome 1 (sequence analysis of ITK gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ITK gene.

More info about this panel

Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 TNFRSF1A CD27 CD70 WAS NLRP3

More info about this panel

Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A STAT3 FAS FASLG CASP10 CASP8 LRBA CTLA4 MAGT1 FADD

More info about this panel

Lymphoproliferative syndrome 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ITK gene.

More info about this panel

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

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 Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Panel

United States.

By Invitae Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 CD27 WAS ADA LYST UNC13D

More info about this panel

Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel Panel

United States.

By Invitae Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel that also includes the following genes: FAS FASLG CASP8 CTLA4 MAGT1 ITK PIK3CD PRKCD

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

Hemophagocytic Lymphohistiocytosis: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hemophagocytic Lymphohistiocytosis: Sequencing Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 NLRC4 LYST UNC13D MAGT1 GATA2

More info about this panel

ITK Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ITK gene.

More info about this panel

Onco microarray for CLL Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for CLL that also includes the following genes: BCL6 TP53 BCL11A CCND1 FGF2 AKT1 ALK IGH ITK MYB

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

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

Hemophagocytic Lymphohistiocytosis Panel Panel

Finland.

By Blueprint Genetics Hemophagocytic Lymphohistiocytosis Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG LYST UNC13D MAGT1 FADD XIAP

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME NGS PANEL that also includes the following genes: SH2D1A STAT3 FAS FASLG CASP10 CASP8 CTLA4 MAGT1 FADD XIAP

More info about this panel

Lymphoproliferative Syndrome , Deletions-Duplications (MLPA) SH2D1A,XIAP, ITK Genes Panel

Spain.

By Reference Laboratory Genetics Lymphoproliferative Syndrome , Deletions-Duplications (MLPA) SH2D1A,XIAP, ITK Genes that also includes the following genes: SH2D1A XIAP ITK

More info about this panel

Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 AP3B1 XIAP

More info about this panel

Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: FAS FASLG CASP10 CASP8 CTLA4 MAGT1 FADD ITK KRAS NRAS

More info about this panel

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


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