C4A gene related symptoms and diseases
All the information presented here about the C4A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to C4A gene
Symptoms // Phenotype | % Cases |
---|---|
Systemic lupus erythematosus | Common - Between 50% and 80% cases |
Autoimmunity | Uncommon - Between 30% and 50% cases |
Meningitis | Uncommon - Between 30% and 50% cases |
Glomerulonephritis | Uncommon - Between 30% and 50% cases |
Vasculitis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with C4A gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Seizures
- Pericarditis
- Erythema
- Memory impairment
- Rheumatoid arthritis
- Glomerulopathy
- Gangrene
- Aseptic necrosis
And 143 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to C4A gene
Here you will find a list of rare diseases related to the C4A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BEHÇET DISEASE
Alternate names
BEHÇET DISEASE Is also known as bd, behcet disease
Description
Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.
Most common symptoms of BEHÇET DISEASE
- Seizures
- Ataxia
- Neoplasm
- Pain
- Cataract
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
COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD
Alternate names
COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD Is also known as c4a deficiency
Most common symptoms of COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD
- Hypertension
- Diabetes mellitus
- Hepatitis
- Nephrotic syndrome
- Cutaneous photosensitivity
SYSTEMIC LUPUS ERYTHEMATOSUS
Alternate names
SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus, sle
Description
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008).
Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS
- Seizures
- Short stature
- Cognitive impairment
- Anemia
- Fatigue
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
BLOOD GROUP, CHIDO/RODGERS SYSTEM
Alternate names
BLOOD GROUP, CHIDO/RODGERS SYSTEM Is also known as chido/rodgers blood group system
Description
The blood groups Chido (Ch) and Rodgers (Rg) are epitopes on the C4 protein, and polymorphisms associated with these epitopes may lead to the formation of antibodies to the Ch or Rg antigens in transfused patients. Identification of anti-Ch or anti-Rg is based on antibody neutralization with plasma from Ch-positive or Rg-positive individuals and lack of reactivity with qualified Ch-negative or Rg-negative red blood cells. The C4 protein occurs in 2 forms, C4A and C4B, which are encoded by 2 closely linked genes. C4A and C4B are expressed as single-chain precursors of 1,744 amino acids that are nearly identical, with amino acids differences at residues 1101 to 1106 distinguishing C4A from C4B. C4A and C4B are also distinguished by their expression of either the Ch antigen or the Rg antigen at residues 1188 to 1191, where the Ch1 epitope has ADLR and the Rg1 epitope has VDLL. C4A proteins usually carry the Rg antigens, and C4B proteins usually carry the Ch antigens, although in some haplotypes these associations are switched. Nine antigens have been described for the Ch/Rg system: 6 of high prevalence for Ch, 2 of high prevalence for Rg, and 1 of low prevalence, WH. Eight phenotypes of the Ch/Rg system have been established, with 88.2% of individuals having the Ch(1,2,3) Chido phenotype and 95.0% of individuals having the Rg(1,2) Rodgers phenotype (review by Mougey (2010)).
More info about BLOOD GROUP, CHIDO/RODGERS SYSTEMSOURCES: OMIM
Search interest in C4A
Potential gene panels for C4A gene
Complement 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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SOX9 FUCA1 XPR1 VARS2 PITX1 PFN1 FLG