Hyperuricemic nephropathy, familial juvenile type 4
Hyperuricemic nephropathy, familial juvenile type 4
Definition
Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.
Also known as ADTKD-SEC61A1, familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1, HNFJ4, hyperuricemic nephropathy, familial juvenile, 4, hyperuricemic nephropathy, familial juvenile, type 4, SEC61A1 familial juvenile hyperuricemic nephropathy, SEC61A1-related autosomal dominant tubulointerstitial kidney disease, tubulointerstitial kidney disease, autosomal dominant, 5 — per MONDO