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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET


Potential gene panels for C1QA gene

C1QA Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the C1QA gene.

More info about this panel

Exome PLUS Proteinuria/FSGS & Hematuria Panel

United States.

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 panel

C1q deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the C1QA gene.

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

Single gene testing C1QA Panel

Germany.

By CeGaT GmbH

This panel specifically test the C1QA gene.

More info about this panel

C1QA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the C1QA 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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RPL36A-HNRNPH2 PTPRO

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more