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Požymis
Cystic kidney disease
Klinikinis pavadinimas: Renal cyst
A fluid filled sac in the kidney.
Santrauka
- Taip pat vadinama
- Cystic kidneys, Kidney cyst
- Kūno sistema
- Abnormality of the genitourinary system
Cystic kidney diseaseHP:0000107
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Read the genes linked to Cystic kidney disease, and the rest of your genome, with one test.
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Įsigyti savo Genome Test129 genų susiję su Cystic kidney disease
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Cystic kidney disease. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| B9D2B9 domain containing 2 | Visada | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 3 ligose |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| MPImannose phosphate isomerase | Visada | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Visada | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Visada | 2 ligose |
| TMEM216transmembrane protein 216 | Visada | 2 ligose |
| ZMYM3zinc finger MYM-type containing 3 | Visada | 1 ligoje |
| ALG5ALG5 dolichyl-phosphate beta-glucosyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| BICC1BicC family RNA binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Labai dažnai (80–99%) | 1 ligoje |
| DNAJB11DnaJ heat shock protein family (Hsp40) member B11 | Labai dažnai (80–99%) | 1 ligoje |
| GANABglucosidase II alpha subunit | Labai dažnai (80–99%) | 1 ligoje |
| NEK8NIMA related kinase 8 | Labai dažnai (80–99%) | 2 ligose |
| PKD1polycystin 1, transient receptor potential channel interacting | Labai dažnai (80–99%) | 1 ligoje |
| PKD2polycystin 2, transient receptor potential cation channel | Labai dažnai (80–99%) | 1 ligoje |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Labai dažnai (80–99%) | 1 ligoje |
| TMEM237transmembrane protein 237 | Labai dažnai (80–99%) | 1 ligoje |
| FBXO22F-box protein 22 | Dažnai (30–79%) | 1 ligoje |
| GLIS3GLIS family zinc finger 3 | Dažnai (30–79%) | 1 ligoje |
| HNF1BHNF1 homeobox B | Dažnai (30–79%) | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Dažnai (30–79%) | 1 ligoje |
| IFNGinterferon gamma | Dažnai (30–79%) | 2 ligose |
| LRP5LDL receptor related protein 5 | Dažnai (30–79%) | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Dažnai (30–79%) | 1 ligoje |
| NCAPG2non-SMC condensin II complex subunit G2 | Dažnai (30–79%) | 1 ligoje |
| NPHP3nephrocystin 3 | Dažnai (30–79%) | 1 ligoje |
| PAX1paired box 1 | Dažnai (30–79%) | 1 ligoje |
| PAX2paired box 2 | Dažnai (30–79%) | 2 ligose |
| PBX1PBX homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 1 ligoje |
| RAD51CRAD51 paralog C | Dažnai (30–79%) | 1 ligoje |
| TCTN3tectonic family member 3 | Dažnai (30–79%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 1 ligoje |
| TSC1TSC complex subunit 1 | Dažnai (30–79%) | 2 ligose |
| TSC2TSC complex subunit 2 | Dažnai (30–79%) | 2 ligose |
| TULP3TUB like protein 3 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 89 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| UMODuromodulin | Dažnai (30–79%) | 1 ligoje |
| ZNF148zinc finger protein 148 | Dažnai (30–79%) | 1 ligoje |
| AKR1D1aldo-keto reductase family 1 member D1 | Kartais (5–29%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Kartais (5–29%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| CDC73cell division cycle 73 | Kartais (5–29%) | 2 ligose |
| CILK1ciliogenesis associated kinase 1 | Kartais (5–29%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CWC27CWC27 spliceosome associated cyclophilin | Kartais (5–29%) | 2 ligose |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Kartais (5–29%) | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Kartais (5–29%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Kartais (5–29%) | 1 ligoje |
| FIBPFGF1 intracellular binding protein | Kartais (5–29%) | 1 ligoje |
| FLCNfolliculin | Kartais (5–29%) | 2 ligose |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| IFT80intraflagellar transport 80 | Kartais (5–29%) | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Kartais (5–29%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Kartais (5–29%) | 1 ligoje |
| LAMA3laminin subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| LAMB3laminin subunit beta 3 | Kartais (5–29%) | 1 ligoje |
| LAMC2laminin subunit gamma 2 | Kartais (5–29%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Kartais (5–29%) | 1 ligoje |
| MAB21L1mab-21 like 1 | Kartais (5–29%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Kartais (5–29%) | 1 ligoje |
| MMP23Bmatrix metallopeptidase 23B | Kartais (5–29%) | 1 ligoje |
| MSH3mutS homolog 3 | Kartais (5–29%) | 2 ligose |
| NIPBLNIPBL cohesin loading factor | Kartais (5–29%) | 1 ligoje |
| PDPNpodoplanin | Kartais (5–29%) | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Kartais (5–29%) | 2 ligose |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PORCNporcupine O-acyltransferase | Kartais (5–29%) | 1 ligoje |
| PRDM10PR/SET domain 10 | Kartais (5–29%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Kartais (5–29%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 2 ligose |
| SEC61A1SEC61 translocon subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| SKISKI proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Kartais (5–29%) | 1 ligoje |
| TKTtransketolase | Kartais (5–29%) | 1 ligoje |
| TMEM138transmembrane protein 138 | Kartais (5–29%) | 1 ligoje |
| TMEM260transmembrane protein 260 | Kartais (5–29%) | 1 ligoje |
| TMEM67transmembrane protein 67 | Kartais (5–29%) | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Kartais (5–29%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Kartais (5–29%) | 1 ligoje |
| WDR35WD repeat domain 35 | Kartais (5–29%) | 3 ligose |
| ABCC8ATP binding cassette subfamily C member 8 | Retai (1–4 %) | 1 ligoje |
| APPL1adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | Retai (1–4 %) | 1 ligoje |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Retai (1–4 %) | 1 ligoje |
| CELcarboxyl ester lipase | Retai (1–4 %) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Retai (1–4 %) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Retai (1–4 %) | 1 ligoje |
| GCKglucokinase | Retai (1–4 %) | 1 ligoje |
| HNF1AHNF1 homeobox A | Retai (1–4 %) | 1 ligoje |
| HNF4Ahepatocyte nuclear factor 4 alpha | Retai (1–4 %) | 1 ligoje |
| INSinsulin | Retai (1–4 %) | 1 ligoje |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Retai (1–4 %) | 1 ligoje |
| KLF11KLF transcription factor 11 | Retai (1–4 %) | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | Retai (1–4 %) | 1 ligoje |
| MYT1Lmyelin transcription factor 1 like | Retai (1–4 %) | 1 ligoje |
| NEUROD1neuronal differentiation 1 | Retai (1–4 %) | 1 ligoje |
| PAX4paired box 4 | Retai (1–4 %) | 1 ligoje |
| PDX1pancreatic and duodenal homeobox 1 | Retai (1–4 %) | 1 ligoje |
| SETBP1SET binding protein 1 | Retai (1–4 %) | 1 ligoje |
| BBS10Bardet-Biedl syndrome 10 | Neužfiksuota | 1 ligoje |
| BBS4Bardet-Biedl syndrome 4 | Neužfiksuota | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Neužfiksuota | 1 ligoje |
| CEP120centrosomal protein 120 | Neužfiksuota | 1 ligoje |
| CEP290centrosomal protein 290 | Neužfiksuota | 1 ligoje |
| CEP55centrosomal protein 55 | Neužfiksuota | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Neužfiksuota | 1 ligoje |
| FLNBfilamin B | Neužfiksuota | 1 ligoje |
| GLI3GLI family zinc finger 3 | Neužfiksuota | 1 ligoje |
| GPC3glypican 3 | Neužfiksuota | 1 ligoje |
| MAPKBP1mitogen-activated protein kinase binding protein 1 | Neužfiksuota | 1 ligoje |
| NOTCH2notch receptor 2 | Neužfiksuota | 2 ligose |
| PEX1peroxisomal biogenesis factor 1 | Neužfiksuota | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Neužfiksuota | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Neužfiksuota | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Neužfiksuota | 1 ligoje |
| PRKCSHPRKCSH beta subunit of glucosidase II | Neužfiksuota | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Neužfiksuota | 1 ligoje |
| RMND1required for meiotic nuclear division 1 homolog | Neužfiksuota | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Neužfiksuota | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Neužfiksuota | 1 ligoje |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Neužfiksuota | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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