C1QB gene related symptoms and diseases
All the information presented here about the C1QB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to C1QB gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pain | Very Common - Between 80% and 100% cases |
| Meningitis | Very Common - Between 80% and 100% cases |
| Loss of eyelashes | Very Common - Between 80% and 100% cases |
| Discoid lupus rash | Very Common - Between 80% and 100% cases |
| Macroscopic hematuria | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with C1QB gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- IgA deposition in the glomerulus
- Membranoproliferative glomerulonephritis
- Facial erythema
- Microscopic hematuria
- Glomerulopathy
- Keratitis
- Glomerulonephritis
- Systemic lupus erythematosus
And 15 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to C1QB gene
Here you will find a list of rare diseases related to the C1QB. 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
Search interest in C1QB
Potential gene panels for C1QB gene
C1QB Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the C1QB gene.
More info about this panel Germany.
Membranoproliferative glomerulonephritis Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Membranoproliferative glomerulonephritis that also includes the following genes: C1QB CFHR5 CFH MTHFR PLA2R1
More info about this panel Germany.
C1q Deficiency Panel Panel
Germany.
By CeGaT GmbH C1q Deficiency Panel that also includes the following genes: C1QA C1QB C1QC
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.
C1QB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the C1QB 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.
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