Træk
Progressive loss of vision
Klinisk navn: Progressive visual loss
A reduction of previously attained ability to see.
Resumé
- Også kaldet
- Progressive vision loss, Progressive visual impairment, Slowly progressive visual loss, Vision loss, progressive, Visual loss, progressive, Loss of visual acuity, Progressive visual acuity loss
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test122 gener knyttet til Progressive loss of vision
Ændringer i disse gener forårsager sjældne tilstande, hvor Progressive loss of vision ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CDHR1cadherin related family member 1 | Altid | I 2 tilstande |
| CHMCHM Rab escort protein | Altid | I 2 tilstande |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Altid | I 1 tilstand |
| CLN5CLN5 lysosomal BMP synthase | Altid | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Altid | I 2 tilstande |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Altid | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 2 tilstande |
| KARS1lysyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| KIAA1549KIAA1549 | Altid | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Altid | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Altid | I 2 tilstande |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altid | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Altid | I 2 tilstande |
| TNFRSF11ATNF receptor superfamily member 11a | Altid | I 1 tilstand |
| COL17A1collagen type XVII alpha 1 chain | Meget ofte (80–99 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| OATornithine aminotransferase | Meget ofte (80–99 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| PRPH2peripherin 2 | Meget ofte (80–99 %) | I 2 tilstande |
| RDH11retinol dehydrogenase 11 | Meget ofte (80–99 %) | I 1 tilstand |
| RDH5retinol dehydrogenase 5 | Meget ofte (80–99 %) | I 1 tilstand |
| RHOrhodopsin | Meget ofte (80–99 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RS1retinoschisin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ABCA4ATP binding cassette subfamily A member 4 | Ofte (30–79 %) | I 1 tilstand |
| ADAM9ADAM metallopeptidase domain 9 | Ofte (30–79 %) | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Ofte (30–79 %) | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Ofte (30–79 %) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Ofte (30–79 %) | I 1 tilstand |
| ATF6activating transcription factor 6 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Ofte (30–79 %) | I 1 tilstand |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Ofte (30–79 %) | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| CDH23cadherin related 23 | Ofte (30–79 %) | I 2 tilstande |
| CEP164centrosomal protein 164 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ofte (30–79 %) | I 2 tilstande |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
Vis 82 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| COL18A1collagen type XVIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| CRXcone-rod homeobox | Ofte (30–79 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DRAM2DNA damage regulated autophagy modulator 2 | Ofte (30–79 %) | I 1 tilstand |
| EXOSC3exosome component 3 | Ofte (30–79 %) | I 1 tilstand |
| EXOSC8exosome component 8 | Ofte (30–79 %) | I 1 tilstand |
| EXOSC9exosome component 9 | Ofte (30–79 %) | I 1 tilstand |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Ofte (30–79 %) | I 1 tilstand |
| GUCA1Aguanylate cyclase activator 1A | Ofte (30–79 %) | I 2 tilstande |
| GUCY2Dguanylate cyclase 2D, retinal | Ofte (30–79 %) | I 1 tilstand |
| IFT54intraflagellar transport 54 | Ofte (30–79 %) | I 1 tilstand |
| INVSinversin | Ofte (30–79 %) | I 1 tilstand |
| IQCB1IQ motif containing B1 | Ofte (30–79 %) | I 1 tilstand |
| LRP2LDL receptor related protein 2 | Ofte (30–79 %) | I 2 tilstande |
| MEN1menin 1 | Ofte (30–79 %) | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofte (30–79 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Ofte (30–79 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Ofte (30–79 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Ofte (30–79 %) | I 1 tilstand |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| NPHP3nephrocystin 3 | Ofte (30–79 %) | I 1 tilstand |
| NPHP4nephrocystin 4 | Ofte (30–79 %) | I 1 tilstand |
| OPN1LWopsin 1, long wave sensitive | Ofte (30–79 %) | I 1 tilstand |
| OPN1MWopsin 1, medium wave sensitive | Ofte (30–79 %) | I 1 tilstand |
| PAK2p21 (RAC1) activated kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| PITPNM3PITPNM family member 3 | Ofte (30–79 %) | I 1 tilstand |
| POC1BPOC1 centriolar protein B | Ofte (30–79 %) | I 1 tilstand |
| PROM1prominin 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB28RAB28, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RAX2retina and anterior neural fold homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| RIMS1regulating synaptic membrane exocytosis 1 | Ofte (30–79 %) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Ofte (30–79 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ofte (30–79 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Ofte (30–79 %) | I 2 tilstande |
| SLC25A46solute carrier family 25 member 46 | Ofte (30–79 %) | I 2 tilstande |
| TLCD3BTLC domain containing 3B | Ofte (30–79 %) | I 1 tilstand |
| TTLL5tubulin tyrosine ligase like 5 | Ofte (30–79 %) | I 1 tilstand |
| UBAP1Lubiquitin associated protein 1 like | Ofte (30–79 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Ofte (30–79 %) | I 1 tilstand |
| UNC119unc-119 lipid binding chaperone | Ofte (30–79 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Ofte (30–79 %) | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| SH3BP2SH3 domain binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| APOEapolipoprotein E | Ikke registreret | I 1 tilstand |
| ARL3ARF like GTPase 3 | Ikke registreret | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ikke registreret | I 1 tilstand |
| ATXN7ataxin 7 | Ikke registreret | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ikke registreret | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ikke registreret | I 1 tilstand |
| CFHcomplement factor H | Ikke registreret | I 1 tilstand |
| CFHR1complement factor H related 1 | Ikke registreret | I 1 tilstand |
| CFHR3complement factor H related 3 | Ikke registreret | I 1 tilstand |
| CFIcomplement factor I | Ikke registreret | I 1 tilstand |
| CLN6CLN6 transmembrane ER protein | Ikke registreret | I 1 tilstand |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Ikke registreret | I 1 tilstand |
| DCNdecorin | Ikke registreret | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| HMCN1hemicentin 1 | Ikke registreret | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registreret | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ikke registreret | I 1 tilstand |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Ikke registreret | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Ikke registreret | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registreret | I 1 tilstand |
| SOSTsclerostin | Ikke registreret | I 1 tilstand |
| TGFBItransforming growth factor beta induced | Ikke registreret | I 1 tilstand |
| TPP1tripeptidyl peptidase 1 | Ikke registreret | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Ikke registreret | I 1 tilstand |
| ZNF408zinc finger protein 408 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger