PLCG2 gene related symptoms and diseases
All the information presented here about the PLCG2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PLCG2 gene
Symptoms // Phenotype | % Cases |
---|---|
Recurrent infections | Very Common - Between 80% and 100% cases |
Arthralgia | Very Common - Between 80% and 100% cases |
Erythema | Very Common - Between 80% and 100% cases |
Immune dysregulation | Very Common - Between 80% and 100% cases |
Pain | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PLCG2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Immunodeficiency
- Bronchiolitis
- Enterocolitis
- IgM deficiency
- Recurrent sinopulmonary infections
- Ulcerative colitis
- Corneal erosion
- IgA deficiency
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PLCG2 gene
Here you will find a list of rare diseases related to the PLCG2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION
Alternate names
PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION Is also known as facu, familial cold urticaria with common variable immunodeficiency, antibody deficiency and immune dysregulation, plcg2-associated, plaid, familial atypical cold urticaria
Description
PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.
Most common symptoms of PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION
- Pain
- Fever
- Recurrent infections
- Arthralgia
- Erythema
More info about PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION
AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION
Alternate names
AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION Is also known as aplaid
Description
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is a mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.
Most common symptoms of AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION
- Cataract
- Immunodeficiency
- Recurrent infections
- Arthralgia
- Erythema
More info about AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION
Search interest in PLCG2
Potential gene panels for PLCG2 gene
PLCG2 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PLCG2 gene.
More info about this panelPrimary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication that also includes the following genes: SH2D1A BTK CD40 CD40LG UNG VAV1 AICDA BLNK CD19 CD79A
More info about this panelAutoinflammatory panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Autoinflammatory panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN NLRP3 NCSTN NLRP12 NLRP7 PSENEN NOD2
More info about this panelAutoinflammatory diseases Panel Panel
By CeGaT GmbH Autoinflammatory diseases Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 CARD14 NLRP12 SLC29A3 HFE
More info about this panelSingle gene testing PLCG2 Panel
By CeGaT GmbH
This panel specifically test the PLCG2 gene.
More info about this panelInvitae Common Variable Immunodeficiency Panel Panel
By Invitae Invitae Common Variable Immunodeficiency Panel that also includes the following genes: STAT3 CD27 TNFSF12 LRBA TNFRSF13C TNFRSF13B CR2 CTLA4 ICOS IL21
More info about this panelInvitae Monogenic Autoimmunity Panel Panel
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panelInvitae Monogenic Inflammatory Bowel Disease Panel Panel
By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA
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 Autoinflammatory Syndromes Panel Panel
By Invitae Invitae Autoinflammatory Syndromes Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 NLRC4 CARD14 TRNT1 ADA2
More info about this panelInvitae Familial Cold Autoinflammatory Syndrome Panel Panel
By Invitae Invitae Familial Cold Autoinflammatory Syndrome Panel that also includes the following genes: NLRP3 NLRC4 NLRP12 PLCG2
More info about this panelPLCG2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PLCG2 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 panelAutoinflammatory Syndrome Panel Panel
By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4
More info about this panelFocus::MCL™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MCL™ NGS Panel that also includes the following genes: SALL3 SI SMARCA4 BTK TLR2 TP53 TRAF2 NSD2 XPO1 KMT2C
More info about this panelFocus::CLL™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::CLL™ NGS Panel that also includes the following genes: SF3B1 BRAF BTK MED12 TP53 TRAF2 XPO1 ZMYM3 IKZF3 CARD11
More info about this panelFocus::DLBCL&FL™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::DLBCL&FL™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS
More info about this panelFocus::Lymphoma™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Lymphoma™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS
More info about this panelFoundationOne® Heme Panel
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 panelNeoTYPE® Discovery Profile for Solid Tumors Panel
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panelInflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel
By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
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
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like AGPAT2 SLC25A22 ALG8 ZNF148 KCNQ3 TNXB MIR3681HG