Phenotypes associated with the disease Antiphospholipid syndrome (ORPHA:80):
- 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:80)
- 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:80)
- 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:80)
- 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:80)
- Gangrene (HP:0100758): A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:80)
- Diffuse alveolar hemorrhage (HP:0025420): A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:80)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:80)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Ischemic stroke (HP:0002140): Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Transient ischemic attack (HP:0002326). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Antiphospholipid antibody positivity (HP:0003613): The presence of circulating autoantibodies to phospholipids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Arterial thrombosis (HP:0004420): The formation of a blood clot inside an artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- 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:80)
- Female infertility (HP:0008222). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Anticardiolipin IgG antibody positivity (HP:0020136): The presence of circulating IgG autoantibodies to cardiolipin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Anticardiolipin IgM antibody positivity (HP:0020137): The presence of circulating IgM autoantibodies to cardiolipin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- 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: Frequent (HP:0040282). (ORPHA:80)
- 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:80)
- Livedo racemosa (HP:0033260): Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Livedo reticularis (HP:0033505): Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Anti-beta-2-Glycoprotein I IgG antibody positivity (HP:0034156): Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Anti-beta-2-Glycoprotein I IgM antibody positivity (HP:0034157): Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Preeclampsia (HP:0100602): Pregnancy-induced hypertension in association with significant amounts of protein in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Hypercoagulability (HP:0100724): An abnormality of coagulation associated with an increased risk of thrombosis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:80)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:80)
- 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:80)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:80)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:80)
- Aortic valve stenosis (HP:0001650): The presence of a stenosis (narrowing) of the aortic valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:80)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:80)
- Aortic regurgitation (HP:0001659): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:80)
- Mitral stenosis (HP:0001718): An abnormal narrowing of the orifice of the mitral valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:80)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:80)
- 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: Occasional (HP:0040283). (ORPHA:80)
- 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:80)
- 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:80)