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.

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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

SOURCES: OMIM ORPHANET


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

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

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

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

C1QB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the C1QB gene.

More info about this panel

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

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


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