Focal Segmental Glomerulosclerosis 6

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OMIM 57 614131 Disease Ontology 12 DOID:0111131 ICD10 33 N04.1 MedGen 42 C3279905

MeSH 44 D005923 SNOMED-CT via HPO 69 258211005 29738008 236403004 25821008 52254009 34436003 53298000 20741006 267038008 423666004 79654002 119247004 252157006 255314001 709044004 more UMLS 73 C3279905

UniProtKB/Swiss-Prot : ⁷⁵ Focal segmental glomerulosclerosis 6: 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. FSGS6 is a childhood-onset disorder resulting in nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema.

MalaCards based summary : Focal Segmental Glomerulosclerosis 6, is also known as fsgs6, and has symptoms including edema An important gene associated with Focal Segmental Glomerulosclerosis 6 is MYO1E (Myosin IE). Affiliated tissues include kidney, and related phenotypes are proteinuria and edema

Disease Ontology : ¹² A focal segmental glomerulosclerosis that has material basis in an autosomal recessive mutation of MYO1E on chromosome 15q22.2.

OMIM : ⁵⁷ Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by Mele et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278). (614131)

Clinical features from OMIM:

614131

Search Clinical Trials , NIH Clinical Center for Focal Segmental Glomerulosclerosis 6

Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis 6.