- 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. Frequency: 3/8. (PMID:18268355)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:18268355)
- 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: PCS. Frequency: 6/8. (PMID:18268355)
- 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. (PMID:18268355)
- Glomerular deposits (HP:0030949): An abnormal accumulation of protein in the glomerulus. Evidence: PCS. Frequency: 5/5. (PMID:18268355)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 8/8. (PMID:18268355)
- Glomerular fibronectin deposits (HP:6000428): Accumulation of fibronectin in the glomerulus. Evidence: PCS. Frequency: 5/5. (PMID:18268355)
- Microscopic hematuria (HP:0002907): Microscopic hematuria detected by dipstick or microscopic examination of the urine. Evidence: PCS. Frequency: 3/6. (PMID:18268355)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. (PMID:18268355)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 7/8. (PMID:18268355)
- Glomerulomegaly (HP:0030162): Abnormally large size of glomeruli. Evidence: PCS. Frequency: 5/5. (PMID:18268355)
- 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:18268355)
- Slowly progressive (HP:0003677): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: PCS. (PMID:18268355)
These phenotypes are associated with the disease glomerulopathy with fibronectin deposits 2 (OMIM:601894).