Požymis
Visual loss
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
Santrauka
- Taip pat vadinama
- Loss of vision, Vision loss
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Visual loss, and the rest of your genome, with one test.
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Įsigyti savo Genome Test166 genų susiję su Visual loss
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Visual loss. 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 |
|---|---|---|
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Visada | 1 ligoje |
| COX6B1cytochrome c oxidase subunit 6B1 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Visada | 1 ligoje |
| MYO7Amyosin VIIA | Visada | 3 ligose |
| PEX13peroxisomal biogenesis factor 13 | Visada | 1 ligoje |
| POLG2DNA polymerase gamma 2, accessory subunit | Visada | 1 ligoje |
| SOSTsclerostin | Visada | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Visada | 1 ligoje |
| SRD5A3steroid 5 alpha-reductase 3 | Visada | 2 ligose |
| TEFMtranscription elongation factor, mitochondrial | Visada | 1 ligoje |
| TFGtrafficking from ER to golgi regulator | Visada | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Visada | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Visada | 1 ligoje |
| USH1CUSH1 protein network component harmonin | Visada | 2 ligose |
| ADGRV1adhesion G protein-coupled receptor V1 | Labai dažnai (80–99%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Labai dažnai (80–99%) | 2 ligose |
| ARSGarylsulfatase G | Labai dažnai (80–99%) | 1 ligoje |
| CDH23cadherin related 23 | Labai dažnai (80–99%) | 1 ligoje |
| CEP78centrosomal protein 78 | Labai dažnai (80–99%) | 1 ligoje |
| CFHcomplement factor H | Labai dažnai (80–99%) | 1 ligoje |
| CFIcomplement factor I | Labai dažnai (80–99%) | 1 ligoje |
| CLRN1clarin 1 | Labai dažnai (80–99%) | 1 ligoje |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| ELMO2engulfment and cell motility 2 | Labai dažnai (80–99%) | 1 ligoje |
| ESPNespin | Labai dažnai (80–99%) | 1 ligoje |
| FOXC1forkhead box C1 | Labai dažnai (80–99%) | 1 ligoje |
| HARS1histidyl-tRNA synthetase 1 | Labai dažnai (80–99%) | 1 ligoje |
| HLA-Amajor histocompatibility complex, class I, A | Labai dažnai (80–99%) | 1 ligoje |
| ISCA2iron-sulfur cluster assembly 2 | Labai dažnai (80–99%) | 1 ligoje |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Labai dažnai (80–99%) | 2 ligose |
| NHSNHS actin remodeling regulator | Labai dažnai (80–99%) | 2 ligose |
| PAX6paired box 6 | Labai dažnai (80–99%) | 1 ligoje |
| PCDH15protocadherin related 15 | Labai dažnai (80–99%) | 1 ligoje |
| PDZD7PDZ domain containing 7 | Labai dažnai (80–99%) | 1 ligoje |
| SNX10sorting nexin 10 | Labai dažnai (80–99%) | 1 ligoje |
| TGFBItransforming growth factor beta induced | Labai dažnai (80–99%) | 1 ligoje |
| TIMP3TIMP metallopeptidase inhibitor 3 | Labai dažnai (80–99%) | 1 ligoje |
| TRIM44TRIM family member 44 | Labai dažnai (80–99%) | 1 ligoje |
| USH1GUSH1 protein network component sans | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 126 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| USH2Ausherin | Labai dažnai (80–99%) | 1 ligoje |
| WHRNwhirlin | Labai dažnai (80–99%) | 1 ligoje |
| XYLT2xylosyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| ZNHIT3zinc finger HIT-type containing 3 | Labai dažnai (80–99%) | 1 ligoje |
| AGBL1AGBL carboxypeptidase 1 | Dažnai (30–79%) | 1 ligoje |
| ATXN7ataxin 7 | Dažnai (30–79%) | 1 ligoje |
| C1QTNF5C1q and TNF related 5 | Dažnai (30–79%) | 2 ligose |
| COL18A1collagen type XVIII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL8A2collagen type VIII alpha 2 chain | Dažnai (30–79%) | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Dažnai (30–79%) | 1 ligoje |
| GALCgalactosylceramidase | Dažnai (30–79%) | 3 ligose |
| GATA2GATA binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| GJB2gap junction protein beta 2 | Dažnai (30–79%) | 1 ligoje |
| GJB6gap junction protein beta 6 | Dažnai (30–79%) | 1 ligoje |
| GUCA1Aguanylate cyclase activator 1A | Dažnai (30–79%) | 1 ligoje |
| GUCY2Dguanylate cyclase 2D, retinal | Dažnai (30–79%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Dažnai (30–79%) | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Dažnai (30–79%) | 1 ligoje |
| LAMC3laminin subunit gamma 3 | Dažnai (30–79%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Dažnai (30–79%) | 1 ligoje |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Dažnai (30–79%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Dažnai (30–79%) | 2 ligose |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Dažnai (30–79%) | 2 ligose |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Dažnai (30–79%) | 2 ligose |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Dažnai (30–79%) | 2 ligose |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Dažnai (30–79%) | 2 ligose |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Dažnai (30–79%) | 1 ligoje |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Dažnai (30–79%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 1 ligoje |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Dažnai (30–79%) | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Dažnai (30–79%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Dažnai (30–79%) | 1 ligoje |
| PAK2p21 (RAC1) activated kinase 2 | Dažnai (30–79%) | 1 ligoje |
| PMPCBpeptidase, mitochondrial processing subunit beta | Dažnai (30–79%) | 1 ligoje |
| PRDM5PR/SET domain 5 | Dažnai (30–79%) | 1 ligoje |
| PRPH2peripherin 2 | Dažnai (30–79%) | 1 ligoje |
| SLC4A11solute carrier family 4 member 11 | Dažnai (30–79%) | 1 ligoje |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Dažnai (30–79%) | 2 ligose |
| SOX2SRY-box transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| TCF4transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| ZEB1zinc finger E-box binding homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| ZNF469zinc finger protein 469 | Dažnai (30–79%) | 2 ligose |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Kartais (5–29%) | 1 ligoje |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Kartais (5–29%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Kartais (5–29%) | 1 ligoje |
| ANKRD55ankyrin repeat domain 55 | Kartais (5–29%) | 1 ligoje |
| CCND1cyclin D1 | Kartais (5–29%) | 1 ligoje |
| CD247CD247 molecule | Kartais (5–29%) | 1 ligoje |
| CEP120centrosomal protein 120 | Kartais (5–29%) | 1 ligoje |
| CEP41centrosomal protein 41 | Kartais (5–29%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL7A1collagen type VII alpha 1 chain | Kartais (5–29%) | 2 ligose |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | 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 |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| FBN1fibrillin 1 | Kartais (5–29%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Kartais (5–29%) | 1 ligoje |
| FRG1FSHD region gene 1 | Kartais (5–29%) | 1 ligoje |
| GNAQG protein subunit alpha q | Kartais (5–29%) | 1 ligoje |
| HCCSholocytochrome c synthase | Kartais (5–29%) | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Kartais (5–29%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Kartais (5–29%) | 1 ligoje |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Kartais (5–29%) | 2 ligose |
| IL2RAinterleukin 2 receptor subunit alpha | Kartais (5–29%) | 1 ligoje |
| IL2RBinterleukin 2 receptor subunit beta | Kartais (5–29%) | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Kartais (5–29%) | 1 ligoje |
| KCTD7potassium channel tetramerization domain containing 7 | Kartais (5–29%) | 1 ligoje |
| KIAA0586KIAA0586 | Kartais (5–29%) | 1 ligoje |
| KIF11kinesin family member 11 | Kartais (5–29%) | 1 ligoje |
| LTBP2latent transforming growth factor beta binding protein 2 | Kartais (5–29%) | 2 ligose |
| MKS1MKS transition zone complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| MMP1matrix metallopeptidase 1 | Kartais (5–29%) | 1 ligoje |
| MYOCmyocilin | Kartais (5–29%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Kartais (5–29%) | 1 ligoje |
| NEU1neuraminidase 1 | Kartais (5–29%) | 2 ligose |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Kartais (5–29%) | 2 ligose |
| NOD2nucleotide binding oligomerization domain containing 2 | Kartais (5–29%) | 1 ligoje |
| NOTCH3notch receptor 3 | Kartais (5–29%) | 1 ligoje |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| PGK1phosphoglycerate kinase 1 | Kartais (5–29%) | 1 ligoje |
| PSAPprosaposin | Kartais (5–29%) | 1 ligoje |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Kartais (5–29%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Kartais (5–29%) | 2 ligose |
| SLC19A2solute carrier family 19 member 2 | Kartais (5–29%) | 2 ligose |
| SLC52A2solute carrier family 52 member 2 | Kartais (5–29%) | 1 ligoje |
| STAT4signal transducer and activator of transcription 4 | Kartais (5–29%) | 1 ligoje |
| TATtyrosine aminotransferase | Kartais (5–29%) | 1 ligoje |
| TEKTEK receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Kartais (5–29%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Kartais (5–29%) | 1 ligoje |
| VCANversican | Kartais (5–29%) | 2 ligose |
| VHLvon Hippel-Lindau tumor suppressor | Kartais (5–29%) | 1 ligoje |
| WACWW domain containing adaptor with coiled-coil | Kartais (5–29%) | 1 ligoje |
| GNASGNAS complex locus | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| ABCA4ATP binding cassette subfamily A member 4 | Neužfiksuota | 1 ligoje |
| ABCD1ATP binding cassette subfamily D member 1 | Neužfiksuota | 1 ligoje |
| ALPK1alpha kinase 1 | Neužfiksuota | 1 ligoje |
| APTXaprataxin | Neužfiksuota | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Neužfiksuota | 1 ligoje |
| BCORBCL6 corepressor | Neužfiksuota | 1 ligoje |
| BTDbiotinidase | Neužfiksuota | 1 ligoje |
| CA2carbonic anhydrase 2 | Neužfiksuota | 1 ligoje |
| CLCN7Cl-/H+ antiporter 7 | Neužfiksuota | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Neužfiksuota | 1 ligoje |
| CTSDcathepsin D | Neužfiksuota | 1 ligoje |
| EPM2AEPM2A glucan phosphatase, laforin | Neužfiksuota | 1 ligoje |
| IFT140intraflagellar transport 140 | Neužfiksuota | 1 ligoje |
| LCA5lebercilin LCA5 | Neužfiksuota | 1 ligoje |
| LSSlanosterol synthase | Neužfiksuota | 1 ligoje |
| MFSD8major facilitator superfamily domain containing 8 | Neužfiksuota | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Neužfiksuota | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | Neužfiksuota | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Neužfiksuota | 1 ligoje |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Neužfiksuota | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Neužfiksuota | 1 ligoje |
| POLA1DNA polymerase alpha 1, catalytic subunit | Neužfiksuota | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Neužfiksuota | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Neužfiksuota | 1 ligoje |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Neužfiksuota | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Neužfiksuota | 1 ligoje |
| TCOF1treacle ribosome biogenesis factor 1 | 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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- 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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