Phenotypes associated with the disease Eosinophilic granulomatosis with polyangiitis (ORPHA:183):
- Sinusitis (HP:0000246): Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:183)
- 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:183)
- Urticaria (HP:0001025): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:183)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:183)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:183)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:183)
- Pulmonary infiltrates (HP:0002113). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:183)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:183)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:183)
- Central nervous system degeneration (HP:0007009). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:183)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:183)
- Increased inflammatory response (HP:0012649): A abnormal increase in the inflammatory response to injury or infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:183)
- 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:183)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Hypopigmented skin patches (HP:0001053). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Abnormal pericardium morphology (HP:0001697): An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Tubulointerstitial nephritis (HP:0001970): A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- 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:183)
- Abnormal pleura morphology (HP:0002103): An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Rheumatoid factor positive (HP:0002923): The presence in the serum of an autoantibody directed against the Fc portion of IgG. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- 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:183)
- Airway obstruction (HP:0006536): Obstruction of conducting airways of the lung. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Multiple mononeuropathy (HP:0032018): A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Eosinophilic pneumonia (HP:0032071): The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Cytoplasmic antineutrophil antibody positivity (HP:0032230): The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Anti-proteinase 3 antibody positivity (HP:0033557): The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Anti-myeloperoxidase antibody positivity (HP:0033559): The presence of autoantibodies in the blood circulation that react against myeloperoxidase. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Anti-neutrophil elastase antibody positivity (HP:0034104): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:183)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- 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:183)
- Acrocyanosis (HP:0001063): Bluish discoloration of the skin of the hands or feet. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- 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:183)
- 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:183)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Transient ischemic attack (HP:0002326). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Hemiplegia/hemiparesis (HP:0004374): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Intestinal obstruction (HP:0005214): Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Recurrent intrapulmonary hemorrhage (HP:0006535): A recurrent hemorrhage occurring within the lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Crescentic glomerulonephritis (HP:0008653): A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Myocarditis (HP:0012819): Inflammation of the myocardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Gastrointestinal eosinophilia (HP:0032064): Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Nasal polyposis (HP:0100582): Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Endocarditis (HP:0100584): An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Myositis (HP:0100614): A general term for inflammation of the muscles without respect to the underlying cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Glomerulopathy (HP:0100820): Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Papule (HP:0200034): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)
- Cutaneous granuloma (HP:6000070): A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:183)