Phenotypes associated with the disease Pauci-immune glomerulonephritis (ORPHA:93126):
- Glomerulonephritis (HP:0000099): Inflammation of the renal glomeruli. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:93126)
- 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: Very frequent (HP:0040281). (ORPHA:93126)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93126)
- Microscopic hematuria (HP:0002907): Microscopic hematuria detected by dipstick or microscopic examination of the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93126)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93126)
- Small vessel vasculitis (HP:0011944): A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93126)
- Decreased glomerular filtration rate (HP:0012213): An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93126)
- 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: Very frequent (HP:0040281). (ORPHA:93126)
- Glomerular sclerosis (HP:0000096): Accumulation of scar tissue within the glomerulus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93126)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93126)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93126)
- Abnormality of the respiratory system (HP:0002086): An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93126)
- Crescentic glomerulonephritis (HP:0008653): A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93126)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93126)
- 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: Occasional (HP:0040283). (ORPHA:93126)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93126)
- 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:93126)
- Tubulointerstitial nephritis (HP:0001970): A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93126)
- 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: Occasional (HP:0040283). (ORPHA:93126)
- Abnormality of the upper respiratory tract (HP:0002087): An abnormality of the upper respiratory tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93126)
- 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: Occasional (HP:0040283). (ORPHA:93126)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93126)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93126)
- Abnormality of the pulmonary vasculature (HP:0004930). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93126)
- Arteritis (HP:0012089): Arterial inflammation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93126)
- Macroscopic hematuria (HP:0012587): Hematuria that is visible upon inspection of the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93126)
- Nephrotic range proteinuria (HP:0012593): Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93126)
- 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:93126)
- Pulmonary hemorrhage (HP:0040223): Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93126)
- Oral ulcer (HP:0000155): Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93126)
- Abnormality of the cardiovascular system (HP:0001626): Any abnormality of the cardiovascular system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93126)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93126)
- Abnormality of the gastrointestinal tract (HP:0011024): An abnormality of the gastrointestinal tract. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93126)
- 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: Very rare (HP:0040284). (ORPHA:93126)
- Scleritis (HP:0100532): Inflammation of the sclera. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93126)
Not associated with this disease:
- Granulomatosis (HP:0002955): A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity. Evidence: TAS. (ORPHA:93126)
- Renal interstitial immunoglobulin deposits (HP:0032616): Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). Evidence: TAS. (ORPHA:93126)