Phenotypes associated with the disease thrombophilia due to protein S deficiency, autosomal dominant (OMIM:612336):
- Arterial thrombosis (HP:0004420): The formation of a blood clot inside an artery. Evidence: IEA. (OMIM:612336)
- Purpura (HP:0000979): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: IEA. (OMIM:612336)
- Hypercoagulability (HP:0100724): An abnormality of coagulation associated with an increased risk of thrombosis. Evidence: IEA. (OMIM:612336)
- Superficial thrombophlebitis (HP:0002638): Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein). Evidence: IEA. (OMIM:612336)
- Warfarin-induced skin necrosis (HP:0001038). Evidence: IEA. (OMIM:612336)
- 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: PCS. (PMID:7545463)
- Reduced protein S activity (HP:0004855): An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C. Evidence: IEA. (OMIM:612336)
- Cerebral venous thrombosis (HP:0005305): Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. Evidence: IEA. (OMIM:612336)
- 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:612336)