Požymis
Absent kidney
Klinikinis pavadinimas: Renal agenesis
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
Santrauka
- Taip pat vadinama
- Missing kidney, Renal aplasia
- Kūno sistema
- Abnormality of the genitourinary system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test127 genų susiję su Absent kidney
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Absent kidney. 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 |
|---|---|---|
| FLVCR1FLVCR choline and heme transporter 1 | Visada | 1 ligoje |
| WNT4Wnt family member 4 | Visada | 4 ligose |
| FANCBFA complementation group B | Labai dažnai (80–99%) | 2 ligose |
| FGF20fibroblast growth factor 20 | Labai dažnai (80–99%) | 1 ligoje |
| GFRA1GDNF family receptor alpha 1 | Labai dažnai (80–99%) | 1 ligoje |
| GREB1LGREB1 like retinoic acid receptor coactivator | Labai dažnai (80–99%) | 2 ligose |
| HNF1BHNF1 homeobox B | Labai dažnai (80–99%) | 2 ligose |
| ITGA8integrin subunit alpha 8 | Labai dažnai (80–99%) | 1 ligoje |
| RETret proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| WNT9BWnt family member 9B | Labai dažnai (80–99%) | 1 ligoje |
| CCNQcyclin Q | Dažnai (30–79%) | 1 ligoje |
| FBXO22F-box protein 22 | Dažnai (30–79%) | 1 ligoje |
| FREM1FRAS1 related extracellular matrix 1 | Dažnai (30–79%) | 2 ligose |
| FUZfuzzy planar cell polarity protein | Dažnai (30–79%) | 1 ligoje |
| HOXD13homeobox D13 | Dažnai (30–79%) | 1 ligoje |
| LRP4LDL receptor related protein 4 | Dažnai (30–79%) | 1 ligoje |
| MAXMYC associated transcriptional regulator X | Dažnai (30–79%) | 1 ligoje |
| SH2B1SH2B adaptor protein 1 | Dažnai (30–79%) | 1 ligoje |
| VANGL1VANGL planar cell polarity protein 1 | Dažnai (30–79%) | 1 ligoje |
| WNT3Wnt family member 3 | Dažnai (30–79%) | 1 ligoje |
| ADA2adenosine deaminase 2 | Kartais (5–29%) | 1 ligoje |
| ANOS1anosmin 1 | Kartais (5–29%) | 1 ligoje |
| CCDC141coiled-coil domain containing 141 | Kartais (5–29%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Kartais (5–29%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Kartais (5–29%) | 2 ligose |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Kartais (5–29%) | 2 ligose |
| CRIPTOcripto, EGF-CFC family member | Kartais (5–29%) | 1 ligoje |
| DCCDCC netrin 1 receptor | Kartais (5–29%) | 1 ligoje |
| DHCR2424-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Kartais (5–29%) | 1 ligoje |
| DLL1delta like canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DUSP6dual specificity phosphatase 6 | Kartais (5–29%) | 1 ligoje |
| EMX2empty spiracles homeobox 2 | Kartais (5–29%) | 1 ligoje |
| FAM149B1family with sequence similarity 149 member B1 | Kartais (5–29%) | 1 ligoje |
| FEZF1FEZ family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| FGF17fibroblast growth factor 17 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 2 ligose |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 2 ligose |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Kartais (5–29%) | 1 ligoje |
| FOXH1forkhead box H1 | Kartais (5–29%) | 1 ligoje |
Rodyti dar 87 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| FREM2FRAS1 related extracellular matrix 2 | Kartais (5–29%) | 1 ligoje |
| GAS1growth arrest specific 1 | Kartais (5–29%) | 1 ligoje |
| GATA1GATA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| HEATR3HEAT repeat containing 3 | Kartais (5–29%) | 1 ligoje |
| HESX1HESX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| IL17RDinterleukin 17 receptor D | Kartais (5–29%) | 1 ligoje |
| KIAA0753KIAA0753 | Kartais (5–29%) | 1 ligoje |
| KIF7kinesin family member 7 | Kartais (5–29%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Kartais (5–29%) | 1 ligoje |
| NDNFneuron derived neurotrophic factor | Kartais (5–29%) | 1 ligoje |
| NEK8NIMA related kinase 8 | Kartais (5–29%) | 1 ligoje |
| NODALnodal growth differentiation factor | Kartais (5–29%) | 1 ligoje |
| NPHP3nephrocystin 3 | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 1 ligoje |
| PDE6Dphosphodiesterase 6D | Kartais (5–29%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Kartais (5–29%) | 1 ligoje |
| PROK2prokineticin 2 | Kartais (5–29%) | 1 ligoje |
| PROKR2prokineticin receptor 2 | Kartais (5–29%) | 1 ligoje |
| PTCH1patched 1 | Kartais (5–29%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Kartais (5–29%) | 2 ligose |
| RPL11ribosomal protein L11 | Kartais (5–29%) | 1 ligoje |
| RPL15ribosomal protein L15 | Kartais (5–29%) | 1 ligoje |
| RPL18ribosomal protein L18 | Kartais (5–29%) | 1 ligoje |
| RPL26ribosomal protein L26 | Kartais (5–29%) | 1 ligoje |
| RPL27ribosomal protein L27 | Kartais (5–29%) | 1 ligoje |
| RPL31ribosomal protein L31 | Kartais (5–29%) | 1 ligoje |
| RPL35ribosomal protein L35 | Kartais (5–29%) | 1 ligoje |
| RPL35Aribosomal protein L35a | Kartais (5–29%) | 1 ligoje |
| RPL5ribosomal protein L5 | Kartais (5–29%) | 1 ligoje |
| RPL8ribosomal protein L8 | Kartais (5–29%) | 1 ligoje |
| RPL9ribosomal protein L9 | Kartais (5–29%) | 1 ligoje |
| RPS10ribosomal protein S10 | Kartais (5–29%) | 1 ligoje |
| RPS15Aribosomal protein S15a | Kartais (5–29%) | 1 ligoje |
| RPS17ribosomal protein S17 | Kartais (5–29%) | 1 ligoje |
| RPS19ribosomal protein S19 | Kartais (5–29%) | 1 ligoje |
| RPS20ribosomal protein S20 | Kartais (5–29%) | 1 ligoje |
| RPS24ribosomal protein S24 | Kartais (5–29%) | 1 ligoje |
| RPS26ribosomal protein S26 | Kartais (5–29%) | 1 ligoje |
| RPS27ribosomal protein S27 | Kartais (5–29%) | 1 ligoje |
| RPS28ribosomal protein S28 | Kartais (5–29%) | 1 ligoje |
| RPS29ribosomal protein S29 | Kartais (5–29%) | 1 ligoje |
| RPS7ribosomal protein S7 | Kartais (5–29%) | 1 ligoje |
| SEMA3Asemaphorin 3A | Kartais (5–29%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Kartais (5–29%) | 1 ligoje |
| SIX3SIX homeobox 3 | Kartais (5–29%) | 1 ligoje |
| SIX5SIX homeobox 5 | Kartais (5–29%) | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Kartais (5–29%) | 1 ligoje |
| SPRY4sprouty RTK signaling antagonist 4 | Kartais (5–29%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 1 ligoje |
| TACR3tachykinin receptor 3 | Kartais (5–29%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Kartais (5–29%) | 1 ligoje |
| TCTN3tectonic family member 3 | Kartais (5–29%) | 2 ligose |
| TFAP2Atranscription factor AP-2 alpha | Kartais (5–29%) | 2 ligose |
| TGIF1TGFB induced factor homeobox 1 | Kartais (5–29%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Kartais (5–29%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Kartais (5–29%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Kartais (5–29%) | 1 ligoje |
| TSR2TSR2 ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| WBP11WW domain binding protein 11 | Kartais (5–29%) | 1 ligoje |
| WDR11WD repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| WLSWnt ligand secretion mediator | Kartais (5–29%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| ZMYM2zinc finger MYM-type containing 2 | Kartais (5–29%) | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Retai (1–4 %) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Retai (1–4 %) | 1 ligoje |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Retai (1–4 %) | 1 ligoje |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Retai (1–4 %) | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 1 ligoje |
| CITcitron rho-interacting serine/threonine kinase | Neužfiksuota | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Neužfiksuota | 1 ligoje |
| FANCAFA complementation group A | Neužfiksuota | 1 ligoje |
| FANCCFA complementation group C | Neužfiksuota | 1 ligoje |
| FANCD2FA complementation group D2 | Neužfiksuota | 1 ligoje |
| FANCEFA complementation group E | Neužfiksuota | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Neužfiksuota | 1 ligoje |
| INSL3insulin like 3 | Neužfiksuota | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Neužfiksuota | 1 ligoje |
| PBX1PBX homeobox 1 | Neužfiksuota | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Neužfiksuota | 1 ligoje |
| SALL4spalt like transcription factor 4 | Neužfiksuota | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Neužfiksuota | 1 ligoje |
| SF3B2splicing factor 3b subunit 2 | Neužfiksuota | 1 ligoje |
| TP63tumor protein p63 | Neužfiksuota | 1 ligoje |
| ZIC3Zic family zinc finger 3 | 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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