ⓘ Protein C deficiency

                                     

ⓘ Protein C deficiency

Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981. The disease belongs to a group of genetic disorders known as thrombophilias. Protein C deficiency is associated with an increased incidence of venous thromboembolism, whereas no association with arterial thrombotic disease has been found.

                                     
  • Homozygous protein C deficiency and the consequent serious health effects were described in 1984 by several scientists. c DNA cloning of protein C was first
  • Protein S deficiency is a disorder associated with increased risk of venous thrombosis. Protein S, a vitamin K - dependent physiological anticoagulant
  • D - Bifunctional protein deficiency is an autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders are usually caused by a combination
  • ZAP70 - Related Severe Combined Immunodeficiency ZAP70 deficiency Selective T - cell defect Zeta - associated - protein 70 deficiency at NIH s Office of Rare Diseases
  • Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the complement system proteins Because there are redundancies
  • immunoturbidimetric method. Thus, protein electrophoresis is useful for screening and identifying individuals likely to have a deficiency A1AT is further analyzed
  • of C 4b, which allows them to establish infection. No full deficiency of C 4BP has been found yet. C 4BP interacts also with heparin, C - reactive protein CRP
  • deficiency Various mutations in genes, such as deletion or addition of genes, for anticoagulant proteins such as protein C antithrombin or protein S
  • or nuts. Acrodermatitis enteropathica is an inherited deficiency of the zinc carrier protein ZIP4 resulting in inadequate zinc absorption. It presents
  • with undiagnosed OTC deficiency will often reveal a history of protein avoidance. The prognosis of a patient with severe OTC deficiency is well correlated