- 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: Very frequent (HP:0040281). (ORPHA:329918)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329918)
- Membranoproliferative glomerulonephritis (HP:0000793): A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329918)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329918)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329918)
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329918)
- Decreased circulating complement C3 concentration (HP:0005421): Concentration of the complement component C3 in the blood circulation below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329918)
- Mesangial hypercellularity (HP:0012574): Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329918)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329918)
- Glomerular extracapillary hypercellularity (HP:0025364): Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329918)
- C3 nephritic factor positivity (HP:0030888): The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329918)
- Paraproteinemia (HP:0031047): An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:329918)
- Nephrotic syndrome (HP:0000100): Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329918)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329918)
- 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:329918)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329918)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329918)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329918)
- Drusen (HP:0011510): Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in the Bruch membrane of the eye. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329918)
- Central serous chorioretinopathy (HP:0025567): An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329918)
- Abnormal dark-adapted electroretinogram (HP:0030469): An electroretinographic anomaly detected by dark-adapted full-field ERG. The dark adapted ERG targets rod-pathway function. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329918)
- Yellow/white retinal lesion (HP:0030506): An area anywhere within the retina showing pale yellow or white discoloration. Such lesions can be flat or raised and there size can range from very small to big. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329918)
- Decreased circulating complement C4 concentration (HP:0045042): Concentration of the complement component C4 in the blood circulation below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:329918)
These phenotypes are associated with the disease C3 glomerulopathy (ORPHA:329918).