CR2 gene related symptoms and diseases
All the information presented here about the CR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CR2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Purpura | Uncommon - Between 30% and 50% cases |
| Diarrhea | Uncommon - Between 30% and 50% cases |
| Vasculitis | Uncommon - Between 30% and 50% cases |
| IgA deficiency | Uncommon - Between 30% and 50% cases |
| Autoimmune thrombocytopenia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CR2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Decreased antibody level in blood
- Autoimmunity
- Hemolytic anemia
- Splenomegaly
- Recurrent respiratory infections
- Immunodeficiency
Rarely - Less than 30% cases
- Alopecia
- Midface retrusion
And 76 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CR2 gene
Here you will find a list of rare diseases related to the CR2. 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
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).
Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS
- Seizures
- Short stature
- Cognitive impairment
- Anemia
- Fatigue
More info about SYSTEMIC LUPUS ERYTHEMATOSUS
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9; SLEB9
IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7
Most common symptoms of IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7
- Fever
- Diarrhea
- Splenomegaly
- Immunodeficiency
- Recurrent respiratory infections
More info about IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7
SOURCES: OMIM
Search interest in CR2
Potential gene panels for CR2 gene
CR2 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 CR2 gene.
More info about this panel United States.
CR2 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 CR2 gene.
More info about this panel United States.
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel
United States.
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 panel United States.
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 7 (sequence analysisof CR2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CR2 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.
Immunodeficiency, common variable, 7 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CR2 gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
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.
Combined immunodeficiencies Panel Panel
Germany.
By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40
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.
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.
CR2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CR2 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.
Complement System Disorder Panel Panel
Finland.
By Blueprint Genetics Complement System Disorder Panel that also includes the following genes: CFB SPAG1 THBD SERPING1 RSPH1 C1QA C1QB C1QBP C1QC C1S
More info about this panel Finland.
ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL that also includes the following genes: CFB THBD C1S C2 C3 C3AR1 C8A C9 CFHR4 CFHR3
More info about this panel Spain.
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.
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