Focal Segmental Glomerulosclerosis 4

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OMIM 57 612551 Orphanet 59 ORPHA84271 ICD10 via Orphanet 34 N04.1 N04.3 N04.8

MedGen 42 C2675525 MeSH 44 D005923 SNOMED-CT via HPO 69 236403004 25821008 433146000

OMIM : ⁵⁷ 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, also known as focal segmental glomerulosclerosis 4, susceptibility to, is related to sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis and sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation. An important gene associated with Focal Segmental Glomerulosclerosis 4 is APOL1 (Apolipoprotein L1). Affiliated tissues include kidney, and related phenotypes are focal segmental glomerulosclerosis and stage 5 chronic kidney disease

UniProtKB/Swiss-Prot : ⁷⁵ 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

Search Clinical Trials , NIH Clinical Center for Focal Segmental Glomerulosclerosis 4

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