- Angina pectoris (HP:0001681): Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464343)
- Chorea (HP:0002072): Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464343)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464343)
- Gastrointestinal infarctions (HP:0005244). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464343)
- Acute encephalopathy (HP:0006846). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464343)
- Avascular necrosis (HP:0010885): A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464343)
- Myocarditis (HP:0012819): Inflammation of the myocardium. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464343)
- Retinal arterial occlusion (HP:0025326): Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464343)
- Eclampsia (HP:0100601): An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464343)
- Gangrene (HP:0100758): A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464343)
- Abnormal jugular vein morphology (HP:3000042): Any structural abnormality of a jugular vein. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464343)
- Antiphospholipid antibody positivity (HP:0003613): The presence of circulating autoantibodies to phospholipids. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:464343)
- Abnormal thrombosis (HP:0001977): Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:464343)
- Microangiopathic hemolytic anemia (HP:0001937). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464343)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464343)
- Peripheral thrombosis (HP:0002641). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464343)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464343)
- Arterial thrombosis (HP:0004420): The formation of a blood clot inside an artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464343)
- Coombs-positive hemolytic anemia (HP:0004844): A type of hemolytic anemia in which the Coombs test is positive. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464343)
- Venous thrombosis (HP:0004936): Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464343)
- Miscarriage (HP:0005268): A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464343)
- Abnormal circulating cytokine concentration (HP:0011112): Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464343)
- Anticardiolipin IgG antibody positivity (HP:0020136): The presence of circulating IgG autoantibodies to cardiolipin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464343)
- Anti-beta 2 glycoprotein I antibody positivity (HP:0032376): Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464343)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Cutis marmorata (HP:0000965): A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Abnormal heart valve morphology (HP:0001654): Any structural abnormality of a cardiac valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Myocardial infarction (HP:0001658): Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Transient ischemic attack (HP:0002326). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Superficial thrombophlebitis (HP:0002638): Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Systemic lupus erythematosus (HP:0002725): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Anticardiolipin IgM antibody positivity (HP:0020137): The presence of circulating IgM autoantibodies to cardiolipin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Arterial occlusion (HP:0025324): Blockage of blood flow through an artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Lupus anticoagulant (HP:0025343): Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Abnormal heart valve physiology (HP:0031653): Any functional abnormality of a cardiac valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Anti-phosphatidyl ethanolamine antibody positivity (HP:0034084): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Anti-phosphatidyl choline antibody positivity (HP:0034097): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Anti-phosphatidyl glycerol antibody positivity (HP:0034098): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Anti-phosphatidyl inositol antibody positivity (HP:0034099): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Anti-phosphatidyl serine antibody positivity (HP:0034100): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Anti-annexin-V antibody positivity (HP:0034101): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Amaurosis fugax (HP:0100576): A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Preeclampsia (HP:0100602): Pregnancy-induced hypertension in association with significant amounts of protein in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464343)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464343)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464343)
These phenotypes are associated with the disease Catastrophic antiphospholipid syndrome (ORPHA:464343).