Trait
Cystic kidney disease
Clinical name: Renal cyst
A fluid filled sac in the kidney.
Summary
- Also called
- Cystic kidneys, Kidney cyst
- Body system
- Abnormality of the genitourinary system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Cystic kidney disease, and the rest of your genome, with one test.
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Get my Genome Test129 genes linked to Cystic kidney disease
Changes in these genes cause rare conditions in which Cystic kidney disease is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| B9D2B9 domain containing 2 | Always | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 3 conditions |
| KDM2Blysine demethylase 2B | Always | In 1 condition |
| MPImannose phosphate isomerase | Always | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Always | In 1 condition |
| RPGRIP1LRPGRIP1 like | Always | In 2 conditions |
| TMEM216transmembrane protein 216 | Always | In 2 conditions |
| ZMYM3zinc finger MYM-type containing 3 | Always | In 1 condition |
| ALG5ALG5 dolichyl-phosphate beta-glucosyltransferase | Very often (80–99%) | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Very often (80–99%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Very often (80–99%) | In 1 condition |
| BICC1BicC family RNA binding protein 1 | Very often (80–99%) | In 1 condition |
| CLPBClpB family mitochondrial disaggregase | Very often (80–99%) | In 1 condition |
| DNAJB11DnaJ heat shock protein family (Hsp40) member B11 | Very often (80–99%) | In 1 condition |
| GANABglucosidase II alpha subunit | Very often (80–99%) | In 1 condition |
| NEK8NIMA related kinase 8 | Very often (80–99%) | In 2 conditions |
| PKD1polycystin 1, transient receptor potential channel interacting | Very often (80–99%) | In 1 condition |
| PKD2polycystin 2, transient receptor potential cation channel | Very often (80–99%) | In 1 condition |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Very often (80–99%) | In 1 condition |
| TMEM237transmembrane protein 237 | Very often (80–99%) | In 1 condition |
| FBXO22F-box protein 22 | Often (30–79%) | In 1 condition |
| GLIS3GLIS family zinc finger 3 | Often (30–79%) | In 1 condition |
| HNF1BHNF1 homeobox B | Often (30–79%) | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Often (30–79%) | In 1 condition |
| IFNGinterferon gamma | Often (30–79%) | In 2 conditions |
| LRP5LDL receptor related protein 5 | Often (30–79%) | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Often (30–79%) | In 1 condition |
| NCAPG2non-SMC condensin II complex subunit G2 | Often (30–79%) | In 1 condition |
| NPHP3nephrocystin 3 | Often (30–79%) | In 1 condition |
| PAX1paired box 1 | Often (30–79%) | In 1 condition |
| PAX2paired box 2 | Often (30–79%) | In 2 conditions |
| PBX1PBX homeobox 1 | Often (30–79%) | In 1 condition |
| PMM2phosphomannomutase 2 | Often (30–79%) | In 1 condition |
| RAD51CRAD51 paralog C | Often (30–79%) | In 1 condition |
| TCTN3tectonic family member 3 | Often (30–79%) | In 1 condition |
| TMEM231transmembrane protein 231 | Often (30–79%) | In 1 condition |
| TSC1TSC complex subunit 1 | Often (30–79%) | In 2 conditions |
| TSC2TSC complex subunit 2 | Often (30–79%) | In 2 conditions |
| TULP3TUB like protein 3 | Often (30–79%) | In 1 condition |
Show 89 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| UMODuromodulin | Often (30–79%) | In 1 condition |
| ZNF148zinc finger protein 148 | Often (30–79%) | In 1 condition |
| AKR1D1aldo-keto reductase family 1 member D1 | Sometimes (5–29%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| CASZ1castor zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| CDC73cell division cycle 73 | Sometimes (5–29%) | In 2 conditions |
| CILK1ciliogenesis associated kinase 1 | Sometimes (5–29%) | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Sometimes (5–29%) | In 1 condition |
| CWC27CWC27 spliceosome associated cyclophilin | Sometimes (5–29%) | In 2 conditions |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Sometimes (5–29%) | In 1 condition |
| FIBPFGF1 intracellular binding protein | Sometimes (5–29%) | In 1 condition |
| FLCNfolliculin | Sometimes (5–29%) | In 2 conditions |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sometimes (5–29%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Sometimes (5–29%) | In 1 condition |
| IFT80intraflagellar transport 80 | Sometimes (5–29%) | In 1 condition |
| INPP5Einositol polyphosphate-5-phosphatase E | Sometimes (5–29%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Sometimes (5–29%) | In 1 condition |
| LAMA3laminin subunit alpha 3 | Sometimes (5–29%) | In 1 condition |
| LAMB3laminin subunit beta 3 | Sometimes (5–29%) | In 1 condition |
| LAMC2laminin subunit gamma 2 | Sometimes (5–29%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Sometimes (5–29%) | In 1 condition |
| MAB21L1mab-21 like 1 | Sometimes (5–29%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Sometimes (5–29%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Sometimes (5–29%) | In 1 condition |
| MSH3mutS homolog 3 | Sometimes (5–29%) | In 2 conditions |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 1 condition |
| PDPNpodoplanin | Sometimes (5–29%) | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Sometimes (5–29%) | In 2 conditions |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| PORCNporcupine O-acyltransferase | Sometimes (5–29%) | In 1 condition |
| PRDM10PR/SET domain 10 | Sometimes (5–29%) | In 1 condition |
| PRDM16PR/SET domain 16 | Sometimes (5–29%) | In 1 condition |
| PRKCZprotein kinase C zeta | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 2 conditions |
| SEC61A1SEC61 translocon subunit alpha 1 | Sometimes (5–29%) | In 1 condition |
| SKISKI proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Sometimes (5–29%) | In 1 condition |
| TKTtransketolase | Sometimes (5–29%) | In 1 condition |
| TMEM138transmembrane protein 138 | Sometimes (5–29%) | In 1 condition |
| TMEM260transmembrane protein 260 | Sometimes (5–29%) | In 1 condition |
| TMEM67transmembrane protein 67 | Sometimes (5–29%) | In 1 condition |
| TRRAPtransformation/transcription domain associated protein | Sometimes (5–29%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Sometimes (5–29%) | In 1 condition |
| WDR35WD repeat domain 35 | Sometimes (5–29%) | In 3 conditions |
| ABCC8ATP binding cassette subfamily C member 8 | Rarely (1–4%) | In 1 condition |
| APPL1adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | Rarely (1–4%) | In 1 condition |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Rarely (1–4%) | In 1 condition |
| CELcarboxyl ester lipase | Rarely (1–4%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Rarely (1–4%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Rarely (1–4%) | In 1 condition |
| GCKglucokinase | Rarely (1–4%) | In 1 condition |
| HNF1AHNF1 homeobox A | Rarely (1–4%) | In 1 condition |
| HNF4Ahepatocyte nuclear factor 4 alpha | Rarely (1–4%) | In 1 condition |
| INSinsulin | Rarely (1–4%) | In 1 condition |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Rarely (1–4%) | In 1 condition |
| KLF11KLF transcription factor 11 | Rarely (1–4%) | In 1 condition |
| MT-CYBmitochondrially encoded cytochrome b | Rarely (1–4%) | In 1 condition |
| MYT1Lmyelin transcription factor 1 like | Rarely (1–4%) | In 1 condition |
| NEUROD1neuronal differentiation 1 | Rarely (1–4%) | In 1 condition |
| PAX4paired box 4 | Rarely (1–4%) | In 1 condition |
| PDX1pancreatic and duodenal homeobox 1 | Rarely (1–4%) | In 1 condition |
| SETBP1SET binding protein 1 | Rarely (1–4%) | In 1 condition |
| BBS10Bardet-Biedl syndrome 10 | Not recorded | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Not recorded | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Not recorded | In 1 condition |
| CEP120centrosomal protein 120 | Not recorded | In 1 condition |
| CEP290centrosomal protein 290 | Not recorded | In 1 condition |
| CEP55centrosomal protein 55 | Not recorded | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Not recorded | In 1 condition |
| FLNBfilamin B | Not recorded | In 1 condition |
| GLI3GLI family zinc finger 3 | Not recorded | In 1 condition |
| GPC3glypican 3 | Not recorded | In 1 condition |
| MAPKBP1mitogen-activated protein kinase binding protein 1 | Not recorded | In 1 condition |
| NOTCH2notch receptor 2 | Not recorded | In 2 conditions |
| PEX1peroxisomal biogenesis factor 1 | Not recorded | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Not recorded | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Not recorded | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Not recorded | In 1 condition |
| PRKCSHPRKCSH beta subunit of glucosidase II | Not recorded | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Not recorded | In 1 condition |
| RMND1required for meiotic nuclear division 1 homolog | Not recorded | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Not recorded | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Not recorded | In 1 condition |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Not recorded | In 1 condition |
| TFAP2Atranscription factor AP-2 alpha | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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