Table 1.

Minimal prevalence estimates of cystic kidney and liver diseases by population sequencing

GeneNameMinimal PrevalenceaPutative Function in CystogenesisAssociated Disease
Autosomal dominant inheritance
 PKD1 Polycystin-11 in 1477Moves from ER to cilia as complex with polycystin-2. Exact function remains unknownADPKD
 PKD2 Polycystin-21 in 3914Calcium permeable nonselective cation channel. Forms complex with polycystin-1ADPKD
 GANAB α-Subunit of glucosidase II1 in 4379ER enzyme catalyzes hydrolysis of peptide-bound oligosaccharidesADPKD
 DNAJB11 DNAJ heat shock protein 40 subfamily B, member 111 in 12,312ER glycoprotein cofactor for GRP78, required for protein traffickingADPKD
 ALG9 α-1,2-mannosyltransferase1 in 6156Enzyme for protein N-glycosylationADPKD
 PRKCSH Protein Kinase C substrate, 80-kD heavy chain; β-subunit of glucosidase II1 in 2077ER enzyme catalyzes hydrolysis of peptide-bound oligosaccharidesADPLD
 SEC63 Saccharomyces cerevisiae homolog 631 in 4684With SEC61 and GRP78, assists ER trafficking of membrane-inserted proteinsADPLD
 SEC61B S. cerevisiae homolog 61, β-subunit1 in 14,385Core of translocon, a transmembrane channel for ER protein translocationADPLD
 ALG8 α-3-glucosyltransferase1 in 1429Enzyme for protein N-glycosylationADPLD
 LRP5 LDL receptor–related protein 51 in 3099Coreceptor required for canonical Wnt signalingADPLD
 TSC1 Hamartin1 in 11,188Facilitates HSP90 as chaperone for protein production including Tuberin; negative regulator of mTORC1TSC
 TSC2 Tuberin1 in 2919Activating GTPase of mTORC1 downregulatorsTSC
 VHL VHL tumor suppressor1 in 3301Oxygen sensing, microtubule orientation, tumor suppressionVHL
 COL4A1 Collagen type 4, α11 in 5594Member of mesh-like type 4 basement membrane collagenHANAC
Autosomal recessive inheritance
 PKHD1 Polycystic kidney and hepatic disease 1; Fibrocystin1 in 201,993Noncatalytic β-subunit of glucosidase IIARPKD
 DZIP1L DAZ-interacting zinc finger protein 2Approximately 1 in 3 millionLocalizes to ciliary transition zoneARPKD
 PMM2 Phosphomannomutase 2Approximately 1 in 3 millionPromoter mutation associated with reduced N-glycosylationHIPKD
  • ER, endoplasmic reticulum; ADPKD, autosomal dominant polycystic kidney disease; GRP78, glucose-regulated protein 78 kD; ADPLD, autosomal dominant polycystic liver disease; mTORC1, mammalian target of rapamycin complex 1; HSP90, heat shock protein 90; TSC, tuberous sclerosis complex; VHL, von Hippel-Lindau; HANAC, hereditary angiopathy with nephropathy, aneurysms, and muscle cramps; ARPKD, autosomal recessive polycystic kidney disease; HIPKD, hyperinsulinemic hypoglycemia polycystic kidney disease.

  • a Observed prevalence of protein-truncating mutations from population whole-exome or genome sequencing databases (4). For autosomal recessive conditions, prevalence of homozygous carriers was predicted using the Hardy–Weinberg equilibrium.