Tunnus
Progressive loss of vision
Kliiniline nimetus: Progressive visual loss
A reduction of previously attained ability to see.
Kokkuvõte
- Teised nimetused
- Progressive vision loss, Progressive visual impairment, Slowly progressive visual loss, Vision loss, progressive, Visual loss, progressive, Loss of visual acuity, Progressive visual acuity loss
- Kehasüsteem
- Abnormality of the eye
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Progressive loss of vision, and the rest of your genome, with one test.
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Telli oma Genome Test122 geeni on seotud tunnusega Progressive loss of vision
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Progressive loss of vision. 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 |
|---|---|---|
| CDHR1cadherin related family member 1 | Alati | Esineb 2 haiguses |
| CHMCHM Rab escort protein | Alati | Esineb 2 haiguses |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Alati | Esineb 1 haiguses |
| CLN5CLN5 lysosomal BMP synthase | Alati | Esineb 1 haiguses |
| CLN8CLN8 transmembrane ER and ERGIC protein | Alati | Esineb 2 haiguses |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Alati | Esineb 1 haiguses |
| HMBShydroxymethylbilane synthase | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 2 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| KIAA1549KIAA1549 | Alati | Esineb 1 haiguses |
| MERTKMER proto-oncogene, tyrosine kinase | Alati | Esineb 1 haiguses |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Alati | Esineb 2 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alati | Esineb 1 haiguses |
| RPGRIP1RPGR interacting protein 1 | Alati | Esineb 2 haiguses |
| TNFRSF11ATNF receptor superfamily member 11a | Alati | Esineb 1 haiguses |
| COL17A1collagen type XVII alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEU1neuraminidase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| OATornithine aminotransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Väga sageli (80–99%) | Esineb 2 haiguses |
| PRPH2peripherin 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RDH11retinol dehydrogenase 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RDH5retinol dehydrogenase 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RHOrhodopsin | Väga sageli (80–99%) | Esineb 1 haiguses |
| RLBP1retinaldehyde binding protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RS1retinoschisin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ABCA4ATP binding cassette subfamily A member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ADAM9ADAM metallopeptidase domain 9 | Sageli (30–79%) | Esineb 1 haiguses |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AIPAHR interacting HSP90 co-chaperone | Sageli (30–79%) | Esineb 1 haiguses |
| AIPL1AIP like 1 HSP90 co-chaperone | Sageli (30–79%) | Esineb 1 haiguses |
| ATF6activating transcription factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| CDH23cadherin related 23 | Sageli (30–79%) | Esineb 2 haiguses |
| CEP164centrosomal protein 164 | Sageli (30–79%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 1 haiguses |
| CFAP410cilia and flagella associated protein 410 | Sageli (30–79%) | Esineb 1 haiguses |
| CFAP418cilia and flagella associated protein 418 | Sageli (30–79%) | Esineb 2 haiguses |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 82 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| COL18A1collagen type XVIII alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| CRXcone-rod homeobox | Sageli (30–79%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sageli (30–79%) | Esineb 1 haiguses |
| DRAM2DNA damage regulated autophagy modulator 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC3exosome component 3 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC8exosome component 8 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC9exosome component 9 | Sageli (30–79%) | Esineb 1 haiguses |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| GUCA1Aguanylate cyclase activator 1A | Sageli (30–79%) | Esineb 2 haiguses |
| GUCY2Dguanylate cyclase 2D, retinal | Sageli (30–79%) | Esineb 1 haiguses |
| IFT54intraflagellar transport 54 | Sageli (30–79%) | Esineb 1 haiguses |
| INVSinversin | Sageli (30–79%) | Esineb 1 haiguses |
| IQCB1IQ motif containing B1 | Sageli (30–79%) | Esineb 1 haiguses |
| LRP2LDL receptor related protein 2 | Sageli (30–79%) | Esineb 2 haiguses |
| MEN1menin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MFSD8major facilitator superfamily domain containing 8 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sageli (30–79%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sageli (30–79%) | Esineb 1 haiguses |
| MT-CYBmitochondrially encoded cytochrome b | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| MTTPmicrosomal triglyceride transfer protein | Sageli (30–79%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NPHP1nephrocystin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NPHP3nephrocystin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NPHP4nephrocystin 4 | Sageli (30–79%) | Esineb 1 haiguses |
| OPN1LWopsin 1, long wave sensitive | Sageli (30–79%) | Esineb 1 haiguses |
| OPN1MWopsin 1, medium wave sensitive | Sageli (30–79%) | Esineb 1 haiguses |
| PAK2p21 (RAC1) activated kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PITPNM3PITPNM family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| POC1BPOC1 centriolar protein B | Sageli (30–79%) | Esineb 1 haiguses |
| PROM1prominin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAB28RAB28, member RAS oncogene family | Sageli (30–79%) | Esineb 1 haiguses |
| RAX2retina and anterior neural fold homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RIMS1regulating synaptic membrane exocytosis 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RPGRretinitis pigmentosa GTPase regulator | Sageli (30–79%) | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Sageli (30–79%) | Esineb 1 haiguses |
| SEMA4Asemaphorin 4A | Sageli (30–79%) | Esineb 2 haiguses |
| SLC25A46solute carrier family 25 member 46 | Sageli (30–79%) | Esineb 2 haiguses |
| TLCD3BTLC domain containing 3B | Sageli (30–79%) | Esineb 1 haiguses |
| TTLL5tubulin tyrosine ligase like 5 | Sageli (30–79%) | Esineb 1 haiguses |
| UBAP1Lubiquitin associated protein 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| UCHL1ubiquitin C-terminal hydrolase L1 | Sageli (30–79%) | Esineb 1 haiguses |
| UNC119unc-119 lipid binding chaperone | Sageli (30–79%) | Esineb 1 haiguses |
| VRK1VRK serine/threonine kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| WDR19WD repeat domain 19 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHYHphytanoyl-CoA 2-hydroxylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SH3BP2SH3 domain binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| APOEapolipoprotein E | Pole registreeritud | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Pole registreeritud | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Pole registreeritud | Esineb 1 haiguses |
| ATXN7ataxin 7 | Pole registreeritud | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Pole registreeritud | Esineb 1 haiguses |
| C19orf12chromosome 19 open reading frame 12 | Pole registreeritud | Esineb 1 haiguses |
| CFHcomplement factor H | Pole registreeritud | Esineb 1 haiguses |
| CFHR1complement factor H related 1 | Pole registreeritud | Esineb 1 haiguses |
| CFHR3complement factor H related 3 | Pole registreeritud | Esineb 1 haiguses |
| CFIcomplement factor I | Pole registreeritud | Esineb 1 haiguses |
| CLN6CLN6 transmembrane ER protein | Pole registreeritud | Esineb 1 haiguses |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Pole registreeritud | Esineb 1 haiguses |
| DCNdecorin | Pole registreeritud | Esineb 1 haiguses |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Pole registreeritud | Esineb 1 haiguses |
| HMCN1hemicentin 1 | Pole registreeritud | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Pole registreeritud | Esineb 1 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Pole registreeritud | Esineb 1 haiguses |
| PPT1palmitoyl-protein thioesterase 1 | Pole registreeritud | Esineb 1 haiguses |
| SOSTsclerostin | Pole registreeritud | Esineb 1 haiguses |
| TGFBItransforming growth factor beta induced | Pole registreeritud | Esineb 1 haiguses |
| TPP1tripeptidyl peptidase 1 | Pole registreeritud | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Pole registreeritud | Esineb 1 haiguses |
| ZNF408zinc finger protein 408 | 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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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast