- Glomerulonephritis (HP:0000099): Inflammation of the renal glomeruli. Evidence: PCS. (PMID:20800271)
- 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: PCS. (PMID:20800271)
- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: PCS. (PMID:20800271)
- Mesangial matrix expansion (HP:0033493): Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. Evidence: PCS. Frequency: 8/9. (PMID:20800271)
- 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: PCS. Frequency: 8/9. (PMID:20800271)
- Thickening of glomerular capillary wall (HP:0025005): Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. Evidence: PCS. Frequency: 8/9. (PMID:20800271)
- 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: PCS. Frequency: 15/28. (PMID:20800271)
- Microscopic hematuria (HP:0002907): Microscopic hematuria detected by dipstick or microscopic examination of the urine. Evidence: PCS. Frequency: 22/22. (PMID:20800271)
- Glomerular C3 deposition (HP:0012576): The presence of complement 3 deposits in the glomerulus. Evidence: PCS. Frequency: 9/9. (PMID:20800271)
- Glomerular subendothelial electron-dense deposits (HP:0004746): Electron dense deposits at the glomerular basement membrane,. Evidence: PCS. Frequency: 9/9. (PMID:20800271)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:20800271)
These phenotypes are associated with the disease C3 glomerulonephritis (OMIM:614809).