Phenotypes associated with the disease thrombophilia, X-linked, due to factor 8 defect (OMIM:301071):
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: PCS. Frequency: 1/1. (PMID:40802951)
- Hepatic failure (HP:0001399). Evidence: PCS. Frequency: 1/1. (PMID:40802951)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 2/7. (PMID:33275657)
- Recurrent deep vein thrombosis (HP:0004850): Repeated episodes of the formation of a blot clot in a deep vein. Evidence: PCS. Frequency: 1/1. (PMID:33275657)
- 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:40802951)
- Portal vein thrombosis (HP:0030242): Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins. Evidence: PCS. Frequency: 1/1. (PMID:40802951)
- Splenic infarction (HP:0034336): Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion. Evidence: PCS. Frequency: 1/1. (PMID:40802951)
- Increased factor VIII activity (HP:0030977): Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. Evidence: PCS. Frequency: 8/8. (PMID:40802951;PMID:33275657)
- Left ventricular thrombus (HP:0040412): A blood clot (thrombus) localized in the left ventricle. Left ventricular thrombus is a serious complication of acute myocardial infarction and also of non-ischemic cardiomyopathies. Evidence: PCS. Frequency: 1/1. (PMID:40802951)
- Prolonged prothrombin time (HP:0008151): Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. Evidence: PCS. Frequency: 2/7. (PMID:33275657)
- Abnormality of von Willebrand factor (HP:0012146): Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. Evidence: PCS. Frequency: 0/7. (PMID:33275657)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: PCS. Frequency: 1/1. (PMID:40802951)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/7. (PMID:33275657)
- 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: PCS. Frequency: 4/6. (PMID:33275657)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:40802951)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:40802951)
- Cerebral venous thrombosis (HP:0005305): Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. Evidence: PCS. Frequency: 1/1. (PMID:40802951)
- 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: PCS. Frequency: 3/6. (PMID:33275657)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:40802951)