Požymis
Retinal detachment
Separation of the inner layers of the retina (neural retina) from the pigment epithelium.
Santrauka
- Taip pat vadinama
- Detached retina
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Retinal detachment, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test110 genų susiję su Retinal detachment
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Retinal detachment. 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 |
|---|---|---|
| COL9A2collagen type IX alpha 2 chain | Visada | 2 ligose |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| HYAL2hyaluronidase 2 | Visada | 1 ligoje |
| LRP5LDL receptor related protein 5 | Visada | 3 ligose |
| NDPnorrin cystine knot growth factor NDP | Visada | 4 ligose |
| NHEJ1non-homologous end joining factor 1 | Visada | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Visada | 2 ligose |
| PAK2p21 (RAC1) activated kinase 2 | Visada | 2 ligose |
| TUBTUB bipartite transcription factor | Visada | 1 ligoje |
| UBAP1Lubiquitin associated protein 1 like | Visada | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Labai dažnai (80–99%) | 2 ligose |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Labai dažnai (80–99%) | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Labai dažnai (80–99%) | 4 ligose |
| COL18A1collagen type XVIII alpha 1 chain | Labai dažnai (80–99%) | 2 ligose |
| COL2A1collagen type II alpha 1 chain | Labai dažnai (80–99%) | 8 ligose |
| COL4A1collagen type IV alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Labai dažnai (80–99%) | 2 ligose |
| DAG1dystroglycan 1 | Labai dažnai (80–99%) | 1 ligoje |
| FKRPfukutin related protein | Labai dažnai (80–99%) | 4 ligose |
| FKTNfukutin | Labai dažnai (80–99%) | 3 ligose |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Labai dažnai (80–99%) | 2 ligose |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Labai dažnai (80–99%) | 2 ligose |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Labai dažnai (80–99%) | 1 ligoje |
| POMKprotein O-mannose kinase | Labai dažnai (80–99%) | 2 ligose |
| POMT1protein O-mannosyltransferase 1 | Labai dažnai (80–99%) | 3 ligose |
| POMT2protein O-mannosyltransferase 2 | Labai dažnai (80–99%) | 3 ligose |
| RXYLT1ribitol xylosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| XYLT2xylosyltransferase 2 | Labai dažnai (80–99%) | 2 ligose |
| ADAMTSL1ADAMTS like 1 | Dažnai (30–79%) | 1 ligoje |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Dažnai (30–79%) | 1 ligoje |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Dažnai (30–79%) | 1 ligoje |
| CBScystathionine beta-synthase | Dažnai (30–79%) | 2 ligose |
| CHST14carbohydrate sulfotransferase 14 | Dažnai (30–79%) | 2 ligose |
| DSEdermatan sulfate epimerase | Dažnai (30–79%) | 1 ligoje |
| FASFas cell surface death receptor | Dažnai (30–79%) | 1 ligoje |
| FOXE3forkhead box E3 | Dažnai (30–79%) | 1 ligoje |
| FZD4frizzled class receptor 4 | Dažnai (30–79%) | 1 ligoje |
| GNA11G protein subunit alpha 11 | Dažnai (30–79%) | 1 ligoje |
| GZF1GDNF inducible zinc finger protein 1 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 70 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Dažnai (30–79%) | 1 ligoje |
| HMX1H6 family homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| LAMB2laminin subunit beta 2 | Dažnai (30–79%) | 2 ligose |
| LOXL3lysyl oxidase like 3 | Dažnai (30–79%) | 2 ligose |
| LRP2LDL receptor related protein 2 | Dažnai (30–79%) | 2 ligose |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Dažnai (30–79%) | 2 ligose |
| P3H2prolyl 3-hydroxylase 2 | Dažnai (30–79%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Dažnai (30–79%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Dažnai (30–79%) | 1 ligoje |
| RS1retinoschisin 1 | Dažnai (30–79%) | 2 ligose |
| SETD2SET domain containing 2, histone lysine methyltransferase | Dažnai (30–79%) | 1 ligoje |
| SIX6SIX homeobox 6 | Dažnai (30–79%) | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Dažnai (30–79%) | 1 ligoje |
| VCANversican | Dažnai (30–79%) | 1 ligoje |
| ZNF408zinc finger protein 408 | Dažnai (30–79%) | 1 ligoje |
| ADAMTSL4ADAMTS like 4 | Kartais (5–29%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Kartais (5–29%) | 2 ligose |
| ALMS1ALMS1 centrosome and basal body associated protein | Kartais (5–29%) | 1 ligoje |
| BCORBCL6 corepressor | Kartais (5–29%) | 2 ligose |
| CABP4calcium binding protein 4 | Kartais (5–29%) | 1 ligoje |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Kartais (5–29%) | 1 ligoje |
| CHRDL1chordin like 1 | Kartais (5–29%) | 1 ligoje |
| COL9A1collagen type IX alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL9A3collagen type IX alpha 3 chain | Kartais (5–29%) | 1 ligoje |
| DNMT3BDNA methyltransferase 3 beta | Kartais (5–29%) | 1 ligoje |
| DUX4double homeobox 4 | Kartais (5–29%) | 1 ligoje |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Kartais (5–29%) | 1 ligoje |
| FBN1fibrillin 1 | Kartais (5–29%) | 3 ligose |
| FRG1FSHD region gene 1 | Kartais (5–29%) | 1 ligoje |
| FZD5frizzled class receptor 5 | Kartais (5–29%) | 1 ligoje |
| GNAQG protein subunit alpha q | Kartais (5–29%) | 1 ligoje |
| HLA-Amajor histocompatibility complex, class I, A | Kartais (5–29%) | 1 ligoje |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Kartais (5–29%) | 2 ligose |
| IPO8importin 8 | Kartais (5–29%) | 1 ligoje |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Kartais (5–29%) | 2 ligose |
| KIF11kinesin family member 11 | Kartais (5–29%) | 2 ligose |
| LCA5lebercilin LCA5 | Kartais (5–29%) | 1 ligoje |
| LRATlecithin retinol acyltransferase | Kartais (5–29%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Kartais (5–29%) | 1 ligoje |
| MFRPmembrane frizzled-related protein | Kartais (5–29%) | 1 ligoje |
| NHSNHS actin remodeling regulator | Kartais (5–29%) | 1 ligoje |
| NRCAMneuronal cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| PAX2paired box 2 | Kartais (5–29%) | 1 ligoje |
| PAX6paired box 6 | Kartais (5–29%) | 2 ligose |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Kartais (5–29%) | 2 ligose |
| PRDM5PR/SET domain 5 | Kartais (5–29%) | 1 ligoje |
| PRPH2peripherin 2 | Kartais (5–29%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Kartais (5–29%) | 2 ligose |
| RPE65retinoid isomerohydrolase RPE65 | Kartais (5–29%) | 1 ligoje |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Kartais (5–29%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Kartais (5–29%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Kartais (5–29%) | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | Kartais (5–29%) | 1 ligoje |
| YAP1Yes1 associated transcriptional regulator | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZNF469zinc finger protein 469 | Kartais (5–29%) | 1 ligoje |
| CCND1cyclin D1 | Retai (1–4 %) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Retai (1–4 %) | 2 ligose |
| GMPPBGDP-mannose pyrophosphorylase B | Retai (1–4 %) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Retai (1–4 %) | 1 ligoje |
| VHLvon Hippel-Lindau tumor suppressor | Retai (1–4 %) | 1 ligoje |
| BEST1bestrophin 1 | Neužfiksuota | 2 ligose |
| CAPN5calpain 5 | Neužfiksuota | 1 ligoje |
| COL11A2collagen type XI alpha 2 chain | Neužfiksuota | 1 ligoje |
| CTNNB1catenin beta 1 | Neužfiksuota | 1 ligoje |
| LRP6LDL receptor related protein 6 | Neužfiksuota | 1 ligoje |
| TENM3teneurin transmembrane protein 3 | Neužfiksuota | 1 ligoje |
| TRAPPC2trafficking protein particle complex subunit 2 | Neužfiksuota | 1 ligoje |
| TUBGCP6tubulin gamma complex component 6 | 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.
Siauresni požymiai
Platesni požymiai
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.
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites