Table 1.

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

GeneNameMinimal PrevalenceaPutative Function in CystogenesisAssociated Disease
Autosomal dominant inheritance
 PKD1Polycystin-11 in 1477Moves from ER to cilia as complex with polycystin-2. Exact function remains unknownADPKD
 PKD2Polycystin-21 in 3914Calcium permeable nonselective cation channel. Forms complex with polycystin-1ADPKD
 GANABα-Subunit of glucosidase II1 in 4379ER enzyme catalyzes hydrolysis of peptide-bound oligosaccharidesADPKD
 DNAJB11DNAJ heat shock protein 40 subfamily B, member 111 in 12,312ER glycoprotein cofactor for GRP78, required for protein traffickingADPKD
 ALG9α-1,2-mannosyltransferase1 in 6156Enzyme for protein N-glycosylationADPKD
 PRKCSHProtein Kinase C substrate, 80-kD heavy chain; β-subunit of glucosidase II1 in 2077ER enzyme catalyzes hydrolysis of peptide-bound oligosaccharidesADPLD
 SEC63Saccharomyces cerevisiae homolog 631 in 4684With SEC61 and GRP78, assists ER trafficking of membrane-inserted proteinsADPLD
 SEC61BS. cerevisiae homolog 61, β-subunit1 in 14,385Core of translocon, a transmembrane channel for ER protein translocationADPLD
 ALG8α-3-glucosyltransferase1 in 1429Enzyme for protein N-glycosylationADPLD
 LRP5LDL receptor–related protein 51 in 3099Coreceptor required for canonical Wnt signalingADPLD
 TSC1Hamartin1 in 11,188Facilitates HSP90 as chaperone for protein production including Tuberin; negative regulator of mTORC1TSC
 TSC2Tuberin1 in 2919Activating GTPase of mTORC1 downregulatorsTSC
 VHLVHL tumor suppressor1 in 3301Oxygen sensing, microtubule orientation, tumor suppressionVHL
 COL4A1Collagen type 4, α11 in 5594Member of mesh-like type 4 basement membrane collagenHANAC
Autosomal recessive inheritance
 PKHD1Polycystic kidney and hepatic disease 1; Fibrocystin1 in 201,993Noncatalytic β-subunit of glucosidase IIARPKD
 DZIP1LDAZ-interacting zinc finger protein 2Approximately 1 in 3 millionLocalizes to ciliary transition zoneARPKD
 PMM2Phosphomannomutase 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.