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focal segmental glomerulosclerosis 6

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0013589:  focal segmental glomerulosclerosis 6
UMLS:C3279905: