Phenotypes associated with the disease Immune-mediated thrombotic thrombocytopenic purpura (ORPHA:93585):
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93585)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93585)
- Microangiopathic hemolytic anemia (HP:0001937). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93585)
- Anti-ADAMTS13 antibody positivity (HP:6000462): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93585)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- 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: Frequent (HP:0040282). (ORPHA:93585)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- 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: Frequent (HP:0040282). (ORPHA:93585)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Schistocytosis (HP:0001981): The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Low back pain (HP:0003419): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Unconjugated hyperbilirubinemia (HP:0008282): An increased amount of unconjugated (indirect) bilurubin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Decreased circulating haptoglobin concentration (HP:0020181): The concentration of haptoglobin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Intestinal ischemia (HP:0033404): Restriction of arterial blood supply to the intestine associated with insufficient oxygenation to support the metabolic requirements of the tissue. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Increased circulating troponin I concentration (HP:0410173): An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93585)
- Diplopia (HP:0000651): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93585)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93585)
- Sudden cardiac death (HP:0001645): The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93585)
- 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:93585)
- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93585)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93585)
- Abnormal EKG (HP:0003115): Abnormal rhythm of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93585)
- Increased blood urea nitrogen (HP:0003138): An increased amount of nitrogen in the form of urea in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93585)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93585)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93585)
- Cardiogenic shock (HP:0030149): Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93585)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93585)