- 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. (OMIM:613913)
- 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: 26%. (OMIM:613913)
- 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. (OMIM:613913)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. (OMIM:613913)
- Loss of subcutaneous adipose tissue from upper limbs (HP:0009056). Evidence: IEA. (OMIM:613913)
- Loss of facial adipose tissue (HP:0000292): Loss of normal subcutaneous fat tissue in the face. Evidence: TAS. (OMIM:613913)
- 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. (OMIM:613913)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: IEA. (OMIM:613913)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. (OMIM:613913)
- Sporadic (HP:0003745): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: TAS. (OMIM:613913)
- Progressive loss of facial adipose tissue (HP:0009019). Evidence: TAS. (OMIM:613913)
These phenotypes are associated with the disease lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis (OMIM:613913).