NFKB1 gene related symptoms and diseases
All the information presented here about the NFKB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NFKB1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Decreased antibody level in blood | Very Common - Between 80% and 100% cases |
| Autoimmunity | Very Common - Between 80% and 100% cases |
| Lymphoma | Very Common - Between 80% and 100% cases |
| Immunodeficiency | Very Common - Between 80% and 100% cases |
| Recurrent infections | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NFKB1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- IgA deficiency
- Hemolytic anemia
Not very common - Between 30% and 50% cases
- Gastrointestinal stroma tumor
- Impaired T cell function
- B lymphocytopenia
- Hepatomegaly
- IgM deficiency
- Recurrent infection of the gastrointestinal tract
And 44 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NFKB1 gene
Here you will find a list of rare diseases related to the NFKB1. 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
IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12
Alternate names
IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 Is also known as nfkb1 deficiency
Description
Common variable immunodeficiency-12 is an autosomal dominant primary immunodeficiency characterized by recurrent infections, mainly respiratory, associated with hypogammaglobulinemia. The disorder shows a highly variable age at onset and highly variable disease severity, even within the same family. Some patients have features of autoimmunity (summary by Fliegauf et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).
Most common symptoms of IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12
- Anemia
- Immunodeficiency
- Recurrent infections
- Thrombocytopenia
- Alopecia
More info about IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12
SOURCES: OMIM
Search interest in NFKB1
Potential gene panels for NFKB1 gene
Humoral dysfunction Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panel United States.
Humoral dysfunction Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq Analysis that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panel United States.
Humoral dysfunction Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq + Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panel United States.
Immunodeficiency, common variable (sequence analysis of NFKB1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NFKB1 gene.
More info about this panel Portugal.
Immunodeficiency, common variable (sequence analysis of NFKB1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NFKB1 gene.
More info about this panel Portugal.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Common variable immunodeficiency Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Common variable immunodeficiency that also includes the following genes: CD19 CD81 TNFRSF13C TNFRSF13B CR2 ICOS IL21 MS4A1 NFKB1
More info about this panel Spain.
NFKB1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NFKB1 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.
COMMON VARIABLE IMMUNODEFICIENCY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL COMMON VARIABLE IMMUNODEFICIENCY NGS PANEL that also includes the following genes: IKZF1 CD19 CD81 LRBA TNFRSF13C TNFRSF13B IRF2BP2 CR2 ICOS IL21
More info about this panel Spain.
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel
Spain.
By Reference Laboratory Genetics Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: CXCL12 SH2D1A BTK STAT1 STAT3 TGFB1 TNFRSF4 CD40 CD40LG AICDA
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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