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Tunnus
Cystic kidney disease
Kliiniline nimetus: Renal cyst
A fluid filled sac in the kidney.
Kokkuvõte
- Teised nimetused
- Cystic kidneys, Kidney cyst
- Kehasüsteem
- 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.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test129 geeni on seotud tunnusega Cystic kidney disease
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Cystic kidney disease. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| B9D2B9 domain containing 2 | Alati | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 3 haiguses |
| KDM2Blysine demethylase 2B | Alati | Esineb 1 haiguses |
| MPImannose phosphate isomerase | Alati | Esineb 1 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Alati | Esineb 1 haiguses |
| RPGRIP1LRPGRIP1 like | Alati | Esineb 2 haiguses |
| TMEM216transmembrane protein 216 | Alati | Esineb 2 haiguses |
| ZMYM3zinc finger MYM-type containing 3 | Alati | Esineb 1 haiguses |
| ALG5ALG5 dolichyl-phosphate beta-glucosyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| BICC1BicC family RNA binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNAJB11DnaJ heat shock protein family (Hsp40) member B11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GANABglucosidase II alpha subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEK8NIMA related kinase 8 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PKD1polycystin 1, transient receptor potential channel interacting | Väga sageli (80–99%) | Esineb 1 haiguses |
| PKD2polycystin 2, transient receptor potential cation channel | Väga sageli (80–99%) | Esineb 1 haiguses |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FBXO22F-box protein 22 | Sageli (30–79%) | Esineb 1 haiguses |
| GLIS3GLIS family zinc finger 3 | Sageli (30–79%) | Esineb 1 haiguses |
| HNF1BHNF1 homeobox B | Sageli (30–79%) | Esineb 1 haiguses |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| IFNGinterferon gamma | Sageli (30–79%) | Esineb 2 haiguses |
| LRP5LDL receptor related protein 5 | Sageli (30–79%) | Esineb 1 haiguses |
| LZTFL1leucine zipper transcription factor like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NCAPG2non-SMC condensin II complex subunit G2 | Sageli (30–79%) | Esineb 1 haiguses |
| NPHP3nephrocystin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PAX1paired box 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PAX2paired box 2 | Sageli (30–79%) | Esineb 2 haiguses |
| PBX1PBX homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PMM2phosphomannomutase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RAD51CRAD51 paralog C | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM231transmembrane protein 231 | Sageli (30–79%) | Esineb 1 haiguses |
| TSC1TSC complex subunit 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TSC2TSC complex subunit 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TULP3TUB like protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 89 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| UMODuromodulin | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF148zinc finger protein 148 | Sageli (30–79%) | Esineb 1 haiguses |
| AKR1D1aldo-keto reductase family 1 member D1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AKT1AKT serine/threonine kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CASZ1castor zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC73cell division cycle 73 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CILK1ciliogenesis associated kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL4A1collagen type IV alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CWC27CWC27 spliceosome associated cyclophilin | Mõnikord (5–29%) | Esineb 2 haiguses |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2I1dynein 2 intermediate chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2I2dynein 2 intermediate chain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FIBPFGF1 intracellular binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLCNfolliculin | Mõnikord (5–29%) | Esineb 2 haiguses |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT80intraflagellar transport 80 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMA3laminin subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMB3laminin subunit beta 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMC2laminin subunit gamma 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LUZP1leucine zipper protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAB21L1mab-21 like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MKKSMKKS centrosomal shuttling protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMP23Bmatrix metallopeptidase 23B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSH3mutS homolog 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NIPBLNIPBL cohesin loading factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDPNpodoplanin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Mõnikord (5–29%) | Esineb 2 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRDM10PR/SET domain 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRDM16PR/SET domain 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKCZprotein kinase C zeta | Mõnikord (5–29%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Mõnikord (5–29%) | Esineb 2 haiguses |
| SEC61A1SEC61 translocon subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPENspen family transcriptional repressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TKTtransketolase | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM138transmembrane protein 138 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM260transmembrane protein 260 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM67transmembrane protein 67 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRRAPtransformation/transcription domain associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE4Bubiquitination factor E4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Mõnikord (5–29%) | Esineb 3 haiguses |
| ABCC8ATP binding cassette subfamily C member 8 | Harva (1–4%) | Esineb 1 haiguses |
| APPL1adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | Harva (1–4%) | Esineb 1 haiguses |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Harva (1–4%) | Esineb 1 haiguses |
| CELcarboxyl ester lipase | Harva (1–4%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Harva (1–4%) | Esineb 1 haiguses |
| EHMT1euchromatic histone lysine methyltransferase 1 | Harva (1–4%) | Esineb 1 haiguses |
| GCKglucokinase | Harva (1–4%) | Esineb 1 haiguses |
| HNF1AHNF1 homeobox A | Harva (1–4%) | Esineb 1 haiguses |
| HNF4Ahepatocyte nuclear factor 4 alpha | Harva (1–4%) | Esineb 1 haiguses |
| INSinsulin | Harva (1–4%) | Esineb 1 haiguses |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Harva (1–4%) | Esineb 1 haiguses |
| KLF11KLF transcription factor 11 | Harva (1–4%) | Esineb 1 haiguses |
| MT-CYBmitochondrially encoded cytochrome b | Harva (1–4%) | Esineb 1 haiguses |
| MYT1Lmyelin transcription factor 1 like | Harva (1–4%) | Esineb 1 haiguses |
| NEUROD1neuronal differentiation 1 | Harva (1–4%) | Esineb 1 haiguses |
| PAX4paired box 4 | Harva (1–4%) | Esineb 1 haiguses |
| PDX1pancreatic and duodenal homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| BBS10Bardet-Biedl syndrome 10 | Pole registreeritud | Esineb 1 haiguses |
| BBS4Bardet-Biedl syndrome 4 | Pole registreeritud | Esineb 1 haiguses |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Pole registreeritud | Esineb 1 haiguses |
| CEP120centrosomal protein 120 | Pole registreeritud | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Pole registreeritud | Esineb 1 haiguses |
| CEP55centrosomal protein 55 | Pole registreeritud | Esineb 1 haiguses |
| DHCR77-dehydrocholesterol reductase | Pole registreeritud | Esineb 1 haiguses |
| FLNBfilamin B | Pole registreeritud | Esineb 1 haiguses |
| GLI3GLI family zinc finger 3 | Pole registreeritud | Esineb 1 haiguses |
| GPC3glypican 3 | Pole registreeritud | Esineb 1 haiguses |
| MAPKBP1mitogen-activated protein kinase binding protein 1 | Pole registreeritud | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Pole registreeritud | Esineb 2 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Pole registreeritud | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Pole registreeritud | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Pole registreeritud | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Pole registreeritud | Esineb 1 haiguses |
| PRKCSHPRKCSH beta subunit of glucosidase II | Pole registreeritud | Esineb 1 haiguses |
| PUF60poly(U) binding splicing factor 60 | Pole registreeritud | Esineb 1 haiguses |
| RMND1required for meiotic nuclear division 1 homolog | Pole registreeritud | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Pole registreeritud | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Pole registreeritud | Esineb 1 haiguses |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Pole registreeritud | Esineb 1 haiguses |
| TFAP2Atranscription factor AP-2 alpha | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast