C1QA gene related symptoms and diseases
All the information presented here about the C1QA 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 C1QA gene
Symptoms // Phenotype | % Cases |
---|---|
Systemic lupus erythematosus | Very Common - Between 80% and 100% cases |
Pain | Uncommon - Between 30% and 50% cases |
Meningitis | Uncommon - Between 30% and 50% cases |
Decreased serum complement factor I | Uncommon - Between 30% and 50% cases |
Loss of eyelashes | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with C1QA gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Discoid lupus rash
- Macroscopic hematuria
- IgA deposition in the glomerulus
- Membranoproliferative glomerulonephritis
- Facial erythema
- Microscopic hematuria
- Glomerulopathy
- Keratitis
And 16 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to C1QA gene
Here you will find a list of rare diseases related to the C1QA. 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
AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS
Alternate names
AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as autosomal sle, familial systemic lupus erythematosus, familial sle
Description
Autosomal systemic lupus erythematosus is a rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.
Most common symptoms of AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS
- Systemic lupus erythematosus
- Nephritis
More info about AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS
Search interest in C1QA
Potential gene panels for C1QA gene
C1QA Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the C1QA gene.
More info about this panelExome PLUS Proteinuria/FSGS & Hematuria Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Exome PLUS Proteinuria/FSGS & Hematuria that also includes the following genes: CFB TRPC6 TSC1 TSC2 C1QA C1QC WT1 C3 NPHS2 ADAMTS13
More info about this panelC1q deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the C1QA gene.
More info about this panelC1q Deficiency Panel Panel
By CeGaT GmbH C1q Deficiency Panel that also includes the following genes: C1QA C1QB C1QC
More info about this panelComplement deficiencies Panel Panel
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 panelSingle gene testing C1QA Panel
By CeGaT GmbH
This panel specifically test the C1QA gene.
More info about this panelC1QA Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the C1QA gene.
More info about this panelPrimary Immunodeficiency Panel Panel
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 panelComplement System Disorder Panel Panel
By Blueprint Genetics Complement System Disorder Panel that also includes the following genes: CFB SPAG1 THBD SERPING1 RSPH1 C1QA C1QB C1QBP C1QC C1S
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