loading...| Preferred Name |
Protein S Deficiency Disease |
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| Synonyms |
Deficiency, Protein S Protein S deficiency disease (disorder) Protein S Deficiency Disease Protein S deficiency PROTEIN S DEFIC Protein S Deficiencies Hereditary Thrombophilia Due To Protein S Deficiency DEFIC PROTEIN S Protein S Deficiency [Disease/Finding] Deficiencies, Protein S |
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| Definitions |
[MSH Definition]: 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) [GARD Definition]: Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulated normally and affected individuals have an increased risk of forming a blood clot called a thrombosis. People at risk to have protein S deficiency are those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot. - this information is from GARD/ORDR/NCATS. [NCIt Definition]: A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism. [NICHD Definition]: A thrombophilia disorder characterized by deficiency of protein S; it results in venous thromboembolism. |
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| ID |
http://pat.nichd.nih.gov/maternalconditions/C0242666 |
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| Definition |
[MSH Definition]: 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) [GARD Definition]: Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulated normally and affected individuals have an increased risk of forming a blood clot called a thrombosis. People at risk to have protein S deficiency are those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot. - this information is from GARD/ORDR/NCATS. [NCIt Definition]: A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism. [NICHD Definition]: A thrombophilia disorder characterized by deficiency of protein S; it results in venous thromboembolism. |
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| External Source | ||
| Label |
Protein S Deficiency Disease |
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| notation |
C0242666 |
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| PAT ID |
C0242666 |
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| prefLabel |
Protein S Deficiency Disease |
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| Sub Class Of | ||
| Synonyms |
Deficiency, Protein S Protein S deficiency disease (disorder) Protein S Deficiency Disease Protein S deficiency PROTEIN S DEFIC Protein S Deficiencies Hereditary Thrombophilia Due To Protein S Deficiency DEFIC PROTEIN S Protein S Deficiency [Disease/Finding] Deficiencies, Protein S |