TYK2 gene related symptoms and diseases
All the information presented here about the TYK2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TYK2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Immunodeficiency | Uncommon - Between 30% and 50% cases |
| Recurrent infections | Uncommon - Between 30% and 50% cases |
| Pneumonia | Uncommon - Between 30% and 50% cases |
| Recurrent respiratory infections | Uncommon - Between 30% and 50% cases |
| Lymphadenopathy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with TYK2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Asthma
- Eczema
- Recurrent urinary tract infections
- Meningitis
- Recurrent skin infections
- Chronic mucocutaneous candidiasis
- Recurrent viral infections
- Increased IgE level
And 3 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TYK2 gene
Here you will find a list of rare diseases related to the TYK2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LYMPHOMATOID PAPULOSIS
Alternate names
LYMPHOMATOID PAPULOSIS Is also known as lyp
Description
Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL; see this term) with which it shares overlapping clinical and histopathologic features.
More info about LYMPHOMATOID PAPULOSIS
SOURCES: ORPHANET
PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA
Alternate names
PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA Is also known as primary c-alcl, regressive atypical histiocytosis
Description
Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis (see this term) with which it shares overlapping clinical and histopathologic features.
More info about PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA
SOURCES: ORPHANET
SUSCEPTIBILITY TO INFECTION DUE TO TYK2 DEFICIENCY
Alternate names
SUSCEPTIBILITY TO INFECTION DUE TO TYK2 DEFICIENCY Is also known as tyrosine kinase 2 deficiency, hies with atypical mycobacteriosis, autosomal recessive, autosomal recessive hyper-ige syndrome due to tyk2 deficiency, hyper-ige syndrome with atypical mycobacteriosis, autosomal recessive, tyk2 deficiency
Description
Susceptibility to infection due to TYK2 deficiency is a rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.
Most common symptoms of SUSCEPTIBILITY TO INFECTION DUE TO TYK2 DEFICIENCY
- Immunodeficiency
- Recurrent infections
- Pneumonia
- Recurrent respiratory infections
- Lymphadenopathy
More info about SUSCEPTIBILITY TO INFECTION DUE TO TYK2 DEFICIENCY
Search interest in TYK2
Potential gene panels for TYK2 gene
TYK2 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 TYK2 gene.
More info about this panel United States.
TYK2 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 TYK2 gene.
More info about this panel United States.
Tyrosine kinase 2 deficiency (sequence analysis of TYK2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TYK2 gene.
More info about this panel Portugal.
Hyper IgE Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hyper IgE Syndrome Sequencing Panel with CNV Detection that also includes the following genes: STAT3 TYK2 SPINK5 DOCK8 PGM3
More info about this panel United States.
TYK2 Deficiency via TYK2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TYK2 gene.
More info about this panel United States.
HIES syndromes panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht HIES syndromes panel that also includes the following genes: STAT3 TYK2 DOCK8
More info about this panel Netherlands.
Tyrosine kinase 2 deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TYK2 gene.
More info about this panel Germany.
Syndromes with immunodeficiency Panel Panel
Germany.
By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1
More info about this panel Germany.
Invitae Mendelian Susceptibility to Mycobacterial Disease Panel Panel
United States.
By Invitae Invitae Mendelian Susceptibility to Mycobacterial Disease Panel that also includes the following genes: STAT1 STAT2 ACP5 TYK2 SAMHD1 IRAK4 ADAR CYBB ISG15 GATA2
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.
Hyper IgE Syndromes: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hyper IgE Syndromes: Sequencing Panel that also includes the following genes: STAT3 TYK2 SPINK5 DOCK8
More info about this panel United States.
Hyper IgE Syndromes: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hyper IgE Syndromes: Deletion/Duplication Panel that also includes the following genes: STAT3 TYK2 SPINK5 DOCK8
More info about this panel United States.
TYK2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TYK2 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.
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
HYPER IgE SYNDROME (AUTOSOMAL RECESSIVE) Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPER IgE SYNDROME (AUTOSOMAL RECESSIVE) that also includes the following genes: TYK2 DOCK8 PGM3
More info about this panel Spain.
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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