Požymis
Progressive loss of vision
Klinikinis pavadinimas: Progressive visual loss
A reduction of previously attained ability to see.
Santrauka
- Taip pat vadinama
- Progressive vision loss, Progressive visual impairment, Slowly progressive visual loss, Vision loss, progressive, Visual loss, progressive, Loss of visual acuity, Progressive visual acuity loss
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test122 genų susiję su Progressive loss of vision
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Progressive loss of vision. 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 |
|---|---|---|
| CDHR1cadherin related family member 1 | Visada | 2 ligose |
| CHMCHM Rab escort protein | Visada | 2 ligose |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Visada | 1 ligoje |
| CLN5CLN5 lysosomal BMP synthase | Visada | 1 ligoje |
| CLN8CLN8 transmembrane ER and ERGIC protein | Visada | 2 ligose |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Visada | 1 ligoje |
| HMBShydroxymethylbilane synthase | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 2 ligose |
| KARS1lysyl-tRNA synthetase 1 | Visada | 1 ligoje |
| KIAA1549KIAA1549 | Visada | 1 ligoje |
| MERTKMER proto-oncogene, tyrosine kinase | Visada | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Visada | 2 ligose |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Visada | 1 ligoje |
| RPGRIP1RPGR interacting protein 1 | Visada | 2 ligose |
| TNFRSF11ATNF receptor superfamily member 11a | Visada | 1 ligoje |
| COL17A1collagen type XVII alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| NEU1neuraminidase 1 | Labai dažnai (80–99%) | 2 ligose |
| OATornithine aminotransferase | Labai dažnai (80–99%) | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Labai dažnai (80–99%) | 2 ligose |
| PRPH2peripherin 2 | Labai dažnai (80–99%) | 2 ligose |
| RDH11retinol dehydrogenase 11 | Labai dažnai (80–99%) | 1 ligoje |
| RDH5retinol dehydrogenase 5 | Labai dažnai (80–99%) | 1 ligoje |
| RHOrhodopsin | Labai dažnai (80–99%) | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| RS1retinoschisin 1 | Labai dažnai (80–99%) | 2 ligose |
| ABCA4ATP binding cassette subfamily A member 4 | Dažnai (30–79%) | 1 ligoje |
| ADAM9ADAM metallopeptidase domain 9 | Dažnai (30–79%) | 1 ligoje |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Dažnai (30–79%) | 1 ligoje |
| AIPAHR interacting HSP90 co-chaperone | Dažnai (30–79%) | 1 ligoje |
| AIPL1AIP like 1 HSP90 co-chaperone | Dažnai (30–79%) | 1 ligoje |
| ATF6activating transcription factor 6 | Dažnai (30–79%) | 1 ligoje |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Dažnai (30–79%) | 1 ligoje |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Dažnai (30–79%) | 1 ligoje |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| CDH23cadherin related 23 | Dažnai (30–79%) | 2 ligose |
| CEP164centrosomal protein 164 | Dažnai (30–79%) | 1 ligoje |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Dažnai (30–79%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Dažnai (30–79%) | 2 ligose |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 82 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| COL18A1collagen type XVIII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| CRXcone-rod homeobox | Dažnai (30–79%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Dažnai (30–79%) | 1 ligoje |
| DRAM2DNA damage regulated autophagy modulator 2 | Dažnai (30–79%) | 1 ligoje |
| EXOSC3exosome component 3 | Dažnai (30–79%) | 1 ligoje |
| EXOSC8exosome component 8 | Dažnai (30–79%) | 1 ligoje |
| EXOSC9exosome component 9 | Dažnai (30–79%) | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Dažnai (30–79%) | 1 ligoje |
| GUCA1Aguanylate cyclase activator 1A | Dažnai (30–79%) | 2 ligose |
| GUCY2Dguanylate cyclase 2D, retinal | Dažnai (30–79%) | 1 ligoje |
| IFT54intraflagellar transport 54 | Dažnai (30–79%) | 1 ligoje |
| INVSinversin | Dažnai (30–79%) | 1 ligoje |
| IQCB1IQ motif containing B1 | Dažnai (30–79%) | 1 ligoje |
| LRP2LDL receptor related protein 2 | Dažnai (30–79%) | 2 ligose |
| MEN1menin 1 | Dažnai (30–79%) | 1 ligoje |
| MFSD8major facilitator superfamily domain containing 8 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Dažnai (30–79%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Dažnai (30–79%) | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | Dažnai (30–79%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Dažnai (30–79%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Dažnai (30–79%) | 1 ligoje |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Dažnai (30–79%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Dažnai (30–79%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Dažnai (30–79%) | 1 ligoje |
| NF1neurofibromin 1 | Dažnai (30–79%) | 1 ligoje |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| NPHP1nephrocystin 1 | Dažnai (30–79%) | 1 ligoje |
| NPHP3nephrocystin 3 | Dažnai (30–79%) | 1 ligoje |
| NPHP4nephrocystin 4 | Dažnai (30–79%) | 1 ligoje |
| OPN1LWopsin 1, long wave sensitive | Dažnai (30–79%) | 1 ligoje |
| OPN1MWopsin 1, medium wave sensitive | Dažnai (30–79%) | 1 ligoje |
| PAK2p21 (RAC1) activated kinase 2 | Dažnai (30–79%) | 1 ligoje |
| PITPNM3PITPNM family member 3 | Dažnai (30–79%) | 1 ligoje |
| POC1BPOC1 centriolar protein B | Dažnai (30–79%) | 1 ligoje |
| PROM1prominin 1 | Dažnai (30–79%) | 1 ligoje |
| RAB28RAB28, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RAX2retina and anterior neural fold homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| RIMS1regulating synaptic membrane exocytosis 1 | Dažnai (30–79%) | 1 ligoje |
| RPGRretinitis pigmentosa GTPase regulator | Dažnai (30–79%) | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Dažnai (30–79%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Dažnai (30–79%) | 2 ligose |
| SLC25A46solute carrier family 25 member 46 | Dažnai (30–79%) | 2 ligose |
| TLCD3BTLC domain containing 3B | Dažnai (30–79%) | 1 ligoje |
| TTLL5tubulin tyrosine ligase like 5 | Dažnai (30–79%) | 1 ligoje |
| UBAP1Lubiquitin associated protein 1 like | Dažnai (30–79%) | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Dažnai (30–79%) | 1 ligoje |
| UNC119unc-119 lipid binding chaperone | Dažnai (30–79%) | 1 ligoje |
| VRK1VRK serine/threonine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| WDR19WD repeat domain 19 | Dažnai (30–79%) | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Kartais (5–29%) | 1 ligoje |
| PHYHphytanoyl-CoA 2-hydroxylase | Kartais (5–29%) | 1 ligoje |
| SH3BP2SH3 domain binding protein 2 | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 1 ligoje |
| APOEapolipoprotein E | Neužfiksuota | 1 ligoje |
| ARL3ARF like GTPase 3 | Neužfiksuota | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Neužfiksuota | 1 ligoje |
| ATXN7ataxin 7 | Neužfiksuota | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Neužfiksuota | 1 ligoje |
| C19orf12chromosome 19 open reading frame 12 | Neužfiksuota | 1 ligoje |
| CFHcomplement factor H | Neužfiksuota | 1 ligoje |
| CFHR1complement factor H related 1 | Neužfiksuota | 1 ligoje |
| CFHR3complement factor H related 3 | Neužfiksuota | 1 ligoje |
| CFIcomplement factor I | Neužfiksuota | 1 ligoje |
| CLN6CLN6 transmembrane ER protein | Neužfiksuota | 1 ligoje |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Neužfiksuota | 1 ligoje |
| DCNdecorin | Neužfiksuota | 1 ligoje |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| HMCN1hemicentin 1 | Neužfiksuota | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Neužfiksuota | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Neužfiksuota | 1 ligoje |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Neužfiksuota | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Neužfiksuota | 1 ligoje |
| PPT1palmitoyl-protein thioesterase 1 | Neužfiksuota | 1 ligoje |
| SOSTsclerostin | Neužfiksuota | 1 ligoje |
| TGFBItransforming growth factor beta induced | Neužfiksuota | 1 ligoje |
| TPP1tripeptidyl peptidase 1 | Neužfiksuota | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Neužfiksuota | 1 ligoje |
| ZNF408zinc finger protein 408 | 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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