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  2. Rare Disease Genes
  3. TNFSF12

TNFSF12 gene related symptoms and diseases

All the information presented here about the TNFSF12 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to TNFSF12 gene

Symptoms // Phenotype % Cases
Hepatomegaly Very Common - Between 80% and 100% cases
Autoimmune thrombocytopenia Very Common - Between 80% and 100% cases
Purpura Very Common - Between 80% and 100% cases
Abnormal intestine morphology Very Common - Between 80% and 100% cases
Failure to thrive in infancy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TNFSF12 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Chronic otitis media
  • Emphysema
  • Restrictive ventilatory defect
  • Bronchitis
  • Recurrent sinusitis
  • IgA deficiency
  • IgG deficiency
  • Recurrent bacterial infections

And 35 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TNFSF12 gene

Here you will find a list of rare diseases related to the TNFSF12. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COMMON VARIABLE IMMUNODEFICIENCY

Alternate names

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency, cvid, antibody deficiency due to icos defect, idiopathic immunoglobulin deficiency, primary hypogammaglobulinemia

Description

Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

Most common symptoms of COMMON VARIABLE IMMUNODEFICIENCY

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


More info about COMMON VARIABLE IMMUNODEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for TNFSF12 gene

Antibody deficiencies Panel Panel

Germany.

By CeGaT GmbH Antibody deficiencies Panel that also includes the following genes: BTK TCF3 TCF4 CD40 TNFSF12 CD40LG UNG AICDA BLNK RTEL1

More info about this panel
Germany.

Invitae Common Variable Immunodeficiency Panel Panel

United States.

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 panel
United States.

Invitae Monogenic Autoimmunity Panel Panel

United States.

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 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.

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