Phenotypes associated with the disease thrombophilia due to protein C deficiency, autosomal dominant (OMIM:176860):
- Reduced protein C activity (HP:0005543): An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va. Evidence: IEA. (OMIM:176860)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: IEA. (OMIM:176860)
- Hypercoagulability (HP:0100724): An abnormality of coagulation associated with an increased risk of thrombosis. Evidence: IEA. (OMIM:176860)
- Superficial thrombophlebitis (HP:0002638): Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein). Evidence: IEA. (OMIM:176860)
- Deep venous thrombosis (HP:0002625): Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. Evidence: IEA. (OMIM:176860)
- Warfarin-induced skin necrosis (HP:0001038). Evidence: IEA. (OMIM:176860)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:176860)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: IEA. (OMIM:176860)
- Pulmonary embolism (HP:0002204): An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. Evidence: IEA. (OMIM:176860)
- Cerebral venous thrombosis (HP:0005305): Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. Evidence: IEA. (OMIM:176860)