Phenotypes associated with the disease thrombophilia due to protein S deficiency, autosomal recessive (OMIM:614514):
- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: PCS. Frequency: 1/1. (PMID:20484936)
- Disseminated intravascular coagulation (HP:0005521): Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. Evidence: PCS. Frequency: 1/1. (PMID:20484936)
- Arterial thrombosis (HP:0004420): The formation of a blood clot inside an artery. Evidence: TAS. (OMIM:614514)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 1/1. (PMID:20484936)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 1/1. (PMID:20484936)
- 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: PCS. Frequency: 1/1. (PMID:20484936)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. (OMIM:614514)
- Hypercoagulability (HP:0100724): An abnormality of coagulation associated with an increased risk of thrombosis. Evidence: PCS. Frequency: 1/1. (PMID:20484936)
- Superficial thrombophlebitis (HP:0002638): Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein). Evidence: TAS. (OMIM:614514)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:20484936)
- 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: PCS. Frequency: 1/1. (PMID:20484936)
- Cerebral venous thrombosis (HP:0005305): Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. Evidence: TAS. (OMIM:614514)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:20484936)
- 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: TAS. (OMIM:614514)