TNFAIP3 gene related symptoms and diseases

All the information presented here about the TNFAIP3 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 TNFAIP3 gene

Symptoms // Phenotype % Cases
Autoimmune thrombocytopenia Very Common - Between 80% and 100% cases
Anemia Very Common - Between 80% and 100% cases
Thrombocytopenia Very Common - Between 80% and 100% cases
Antinuclear antibody positivity Very Common - Between 80% and 100% cases
Skin rash Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TNFAIP3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hemolytic anemia
  • Not very common - Between 30% and 50% cases

  • Malar rash
  • Aseptic necrosis
  • Epiphyseal stippling
  • Hashimoto thyroiditis
  • Gangrene
  • Raynaud phenomenon
  • Pleuritis

And 40 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to TNFAIP3 gene

Here you will find a list of rare diseases related to the TNFAIP3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SYSTEMIC LUPUS ERYTHEMATOSUS


Alternate names

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus, sle

Description

Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


More info about SYSTEMIC LUPUS ERYTHEMATOSUS

SOURCES: OMIM ORPHANET

HEREDITARY PEDIATRIC BEHÇET-LIKE DISEASE


Alternate names

HEREDITARY PEDIATRIC BEHÇET-LIKE DISEASE Is also known as behÇet-like disease due to haploinsufficiency of a20, behÇet-like disease due to ha20

Description

Familial Behcet-like autoinflammatory syndrome is an autosomal dominant disorder characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional more variable features include skin rash, uveitis, and polyarthritis. Symptoms become apparent in the first or second decades. The disorder results from inappropriate activation of inflammatory cytokines; treatment with tumor necrosis factor (TNF ) inhibitors may be beneficial (summary by Zhou et al., 2016).

Most common symptoms of HEREDITARY PEDIATRIC BEHÇET-LIKE DISEASE

  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Skin rash
  • Hemolytic anemia


More info about HEREDITARY PEDIATRIC BEHÇET-LIKE DISEASE

SOURCES: ORPHANET OMIM


Potential gene panels for TNFAIP3 gene

TNFAIP3 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the TNFAIP3 gene.

More info about this panel

Autoinflammatory syndrome, familial, Behcet-like (sequence analysis of TNFAIP3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TNFAIP3 gene.

More info about this panel

Autoinflammatory syndrome, familial, Behcet-like (sequence analysis of TNFAIP3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TNFAIP3 gene.

More info about this panel

Periodic Fever Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Periodic Fever Syndromes Sequencing Panel with CNV Detection that also includes the following genes: TNFAIP3 TNFRSF1A LPIN2 IL36RN NLRP3 CARD14 NLRP12 ELANE NOD2 MEFV

More info about this panel

Single gene testing TNFAIP3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the TNFAIP3 gene.

More info about this panel

TNFAIP3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TNFAIP3 gene.

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

Autoinflammatory Syndrome Panel Panel

Finland.

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 panel

Focus::DLBCL&FL™ NGS Panel Panel

United States.

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 panel

Focus::Lymphoma™ NGS Panel Panel

United States.

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 panel

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

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

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 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

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

More info about this panel

Tempus xT assay Panel

United States.

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 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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SSX1 GRIN1 PCK2 ABCB1 CYP11B2 CAD

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more