Focal Segmental Glomerulosclerosis 4 (FSGS4)

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OMIM 56 612551 OMIM Phenotypic Series 56 PS603278 MeSH 43 D005923

MedGen 41 C2675525 SNOMED-CT via HPO 68 236403004 25821008 433146000

OMIM : ⁵⁶ Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278). (612551)

MalaCards based summary : Focal Segmental Glomerulosclerosis 4, is also known as focal segmental glomerulosclerosis 4, susceptibility to. An important gene associated with Focal Segmental Glomerulosclerosis 4 is APOL1 (Apolipoprotein L1). Affiliated tissues include kidney and heart, and related phenotypes are stage 5 chronic kidney disease and focal segmental glomerulosclerosis

UniProtKB/Swiss-Prot : ⁷³ Focal segmental glomerulosclerosis 4: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.

Clinical features from OMIM:

612551

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Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis 4.