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. Author manuscript; available in PMC: 2025 Aug 1.
Published in final edited form as: Nat Rev Nephrol. 2024 Oct 23;21(2):115–126. doi: 10.1038/s41581-024-00900-7

Table 3|.

Examples of proposed renamed disease entities

Gene Name Historical disease names Proposed disease name
PKD1 PKD1 (MIM#173900)
ADPKD		 ADPKD–PKD1
UMOD Familial juvenile hyperuricaemic nephropathy
Uromodulin-associated kidney disease
Medullary cystic kidney disease
Tubulointerstitial kidney disease, autosomal-dominant, 1 (MIM#162000)		 ADTKD–UMOD
CRB2 FSGS 9 (MIM#616220)
Ventriculomegaly with cystic kidney disease (MIM#219730)		 Autosomal-recessive glomerulopathy, with or without ventriculomegaly and renal cysts–CRB2
LMX1B Nail-patella-like renal disease FSGS 10 (MIM#256020) Isolated glomerulopathy–LMX1B
WNK1 Pseudohypoaldosteronism, type IIC (MIM#614492) Familial hypertension with hyperkalaemia–WNK1

ADPKD, autosomal-dominant polycystic kidney disease; ADTKD, autosomal-dominant tubulointerstitial kidney disease; FSGS, focal segmental glomerulosclerosis.