C2 gene related symptoms and diseases
All the information presented here about the C2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to C2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Membranoproliferative glomerulonephritis | Common - Between 50% and 80% cases |
| Arthralgia | Common - Between 50% and 80% cases |
| Discoid lupus rash | Common - Between 50% and 80% cases |
| Glomerulonephritis | Common - Between 50% and 80% cases |
| Systemic lupus erythematosus | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with C2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Autoimmunity
- Skin rash
- Recurrent infections
- Immunodeficiency
- Renal insufficiency
Not very common - Between 30% and 50% cases
- Antinuclear antibody positivity
- Fatigable weakness
- Rheumatoid arthritis
And 25 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to C2 gene
Here you will find a list of rare diseases related to the C2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY
Alternate names
IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency, immunodeficiency due to an early component of complement deficiency
Description
Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.
Most common symptoms of IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY
- Pain
- Cataract
- Fever
- Renal insufficiency
- Immunodeficiency
More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY; C2D
Alternate names
COMPLEMENT COMPONENT 2 DEFICIENCY; C2D Is also known as c2 deficiency
Most common symptoms of COMPLEMENT COMPONENT 2 DEFICIENCY; C2D
- Hypertension
- Renal insufficiency
- Immunodeficiency
- Recurrent infections
- Arthralgia
More info about COMPLEMENT COMPONENT 2 DEFICIENCY; C2D
SOURCES: OMIM
MACULAR DEGENERATION, AGE-RELATED, 14; ARMD14
Search interest in C2
Potential gene panels for C2 gene
C2 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 C2 gene.
More info about this panel United States.
C2 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 C2 gene.
More info about this panel United States.
C2 deficiency (sequence analysis of C2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the C2 gene.
More info about this panel Portugal.
C2 deficiency Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the C2 gene.
More info about this panel Germany.
C2 deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the C2 gene.
More info about this panel Germany.
Complement deficiencies Panel Panel
Germany.
By CeGaT GmbH Complement deficiencies Panel that also includes the following genes: CFB THBD SERPING1 C1QA C1QB C1QC C1R C1S C2 C3
More info about this panel Germany.
Macular Degeneration NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Macular Degeneration NGS Panel that also includes the following genes: RLBP1 RPGR CFB TLR4 C2 C3 ELOVL4 RAX2 HMCN1 CNGB3
More info about this panel United States.
C2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the C2 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.
Complement Component C2 Deficiency , Sequencing C2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the C2 gene.
More info about this panel Spain.
Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes Panel
Spain.
By Reference Laboratory Genetics Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes that also includes the following genes: CFB C2 C3 C9 RAX2 HMCN1 CST3 CX3CR1 ARMS2 ABCA4
More info about this panel Spain.
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