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Protein C Deficiency
Aka: Protein C Deficiency, Protein S Deficiency- Pathophysiology
- Protein C neutralizes factors V and VIII
- Deficiency inherited Autosomal Dominant
- Venous thrombosis occurs if functional levels <50%
- Protein S is Cofactor for Protein C
- Venous thrombosis occurs if functional levels <60%
- Protein C and Protein S are both Vitamin K dependent
- Protein C neutralizes factors V and VIII
- Complications
- Warfarin induced skin necrosis
- Purpura fulminans
- Infants Homozygous for Protein C Deficiency
Protein S Deficiency (C0242666) |
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Definition (NCI) | A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism. |
Definition (MSH) | An autosomal dominant disorder showing decreased levels of plasma protein S antigen or activity, associated with venous thrombosis and pulmonary embolism. PROTEIN S is a vitamin K-dependent plasma protein that inhibits blood clotting by serving as a cofactor for activated PROTEIN C (also a vitamin K-dependent protein), and the clinical manifestations of its deficiency are virtually identical to those of protein C deficiency. Treatment with heparin for acute thrombotic processes is usually followed by maintenance administration of coumarin drugs for the prevention of recurrent thrombosis. (From Harrison's Principles of Internal Medicine, 12th ed, p1511; Wintrobe's Clinical Hematology, 9th ed, p1523) |
Concepts | Disease or Syndrome (T047) |
MSH | D018455 |
ICD10 | D68.59 |
SnomedCT | 1563006 |
English | Deficiencies, Protein S, Deficiency, Protein S, Protein S Deficiencies, Protein S Deficiency, DEFIC PROTEIN S, PROTEIN S DEFIC, protein S deficiency, protein S deficiency (diagnosis), Protein S Deficiency [Disease/Finding], deficiency protein s, s protein deficiency, protein s deficiencies, protein s deficiency, Hereditary Thrombophilia Due To Protein S Deficiency, Protein S Deficiency Disease, Protein S deficiency, Protein S deficiency disease, Protein S deficiency disease (disorder) |
Italian | Deficit di proteina S, Carenza di proteina S |
Swedish | Protein S-brist |
Czech | protein S - nedostatek, Deficit proteinu S |
Finnish | Proteiini S:n puutos |
Russian | BELKA S NEDOSTATOCHNOST', БЕЛКА S НЕДОСТАТОЧНОСТЬ |
Japanese | プロテインS欠乏症, プロテインSケツボウショウ, プロテインS欠損症, Protein S欠損症, 蛋白質S欠損症 |
Polish | Niedobór białka S |
Hungarian | Protein S hiány |
Norwegian | Protein S-mangel |
Spanish | deficiencia de proteína S (trastorno), deficiencia de proteína S, enfermedad por deficiencia de proteína S (trastorno), enfermedad por deficiencia de proteína S, Deficiencia de proteína S, Deficiencia de Proteína S |
Portuguese | Deficiência de proteína S, Deficiência de Proteína S |
Dutch | proteïne S-deficiëntie, Deficiëntie, proteïne-S-, Proteïne-S-deficiëntie |
German | Protein S-Mangel, Protein-S-Mangel |
French | Déficit en protéine S |
Sources |
Derived from the NIH UMLS (Unified Medical Language System) |
Protein C Deficiency (C0398625) |
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Definition (NCI) | A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism. |
Definition (MSH) | An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is associated with an increased risk of severe or premature thrombosis. (Stedman's Med. Dict., 26th ed.) |
Concepts | Disease or Syndrome (T047) |
MSH | D020151 |
ICD10 | D68.59 |
SnomedCT | 76407009 |
Swedish | Protein C-brist |
English | PROTEIN C DEFIC, DEFIC PROTEIN C, protein C deficiency (diagnosis), Deficiencies, Protein C, Deficiency, Protein C, Protein C Deficiencies, Protein C Deficiency, protein C deficiency, Protein C Deficiency [Disease/Finding], c protein deficiency, protein c deficiency, c deficiency protein, deficiency protein c, Hereditary Thrombophilia Due To Protein C Deficiency, Protein C Deficiency Disease, Protein C deficiency, Protein C deficiency disease, Protein C deficiency disease (disorder) |
Finnish | Proteiini C:n puutos |
Russian | BELKA C NEDOSTATOCHNOST', БЕЛКА C НЕДОСТАТОЧНОСТЬ |
Czech | Deficit proteinu C, protein C - nedostatek, nedostatek proteinu C, deficit proteinu C |
Japanese | プロテインC欠乏症, プロテインCケツボウショウ, プロテインC欠損症, PC欠乏症, プロティンC欠乏症, プロテインC欠乏症 |
Polish | Niedobór białka C |
Hungarian | Protein C hiány |
Croatian | Protein C, nedostatak |
Norwegian | Protein C-mangel |
Spanish | deficiencia de proteína C (trastorno), deficiencia de proteína C, enfermedad por deficiencia de proteína C (trastorno), enfermedad por deficiencia de proteína C, Deficiencia de Proteína C |
Portuguese | Deficiência de proteína C, Deficiência de Proteína C |
Dutch | proteïne C-deficiëntie, Deficiëntie, proteïne-C-, Proteïne-C-deficiëntie |
French | Carence en protéine C, Déficit en protéine C |
German | Protein C Mangel, Protein C-Mangel |
Italian | Deficit di proteina C |
Sources |
Derived from the NIH UMLS (Unified Medical Language System) |
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