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Hereditary antithrombin deficiency
rareA rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).
- Identifiers
- MONDO:0013144 OMIM:613118Orphanet:82
- Causal genes
- SERPINC1
- Also known as
- antithrombin 3 deficiency · Antithrombin Deficiency · antithrombin III deficiency · AT3D · congenital antithrombin III deficiency
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