C4A gene related symptoms and diseases

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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: OMIM ORPHANET

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

SOURCES: MESH OMIM

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). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS

• Seizures
• Short stature
• Cognitive impairment
• Anemia
• Fatigue

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

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)).

SOURCES: OMIM