Tulajdonság
Progressive loss of vision
Klinikai név: Progressive visual loss
A reduction of previously attained ability to see.
Összefoglaló
- Más néven
- Progressive vision loss, Progressive visual impairment, Slowly progressive visual loss, Vision loss, progressive, Visual loss, progressive, Loss of visual acuity, Progressive visual acuity loss
- Szervrendszer
- Abnormality of the eye
Ez az oldal adatként
Adja hozzá a .json végződést az oldal címéhez, vagy kérjen application/json típust, hogy JSON-ként olvassa be.
library(jsonlite)
url <- "https://dantelabs.com/traits/progressive-visual-loss.json"
page <- fromJSON(url)
page$trait$nameOlvassa el a(z) Progressive loss of vision nevű génhez kapcsolódó információkat, valamint a genomja többi részét egyetlen teszttel.
449 $-tólIngyenes szállítás · Eredmények 6–8 hét alatt
Kérem a Genome Testemet85 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Nephronophthisis and Senior-Løken SyndromeReads 9 of these genesCEP164IFT54INVSIQCB1NPHP1NPHP3About this report →
- Neuronal Ceroid LipofuscinosisReads 7 of these genesCLN3CLN5CLN8MFSD8CLN6PPT1About this report →
- Retinitis PigmentosaReads 16 of these genesCDHR1IFT140KIAA1549MERTKPRPH2RDH5About this report →
- RDH5-Related Retinopathy (Fundus Albipunctatus)Reads 3 of these genesPRPH2RDH5RLBP1About this report →
Show 81 more reports
- Hereditary Optic NeuropathyReads 6 of these genesOPA1MT-ND1MT-ND4MT-ND5MT-ND6ATP1A3About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 7 of these genesRPGRIP1PRPH2AIPL1CEP290CRXGUCY2DAbout this report →
- AchromatopsiaReads 4 of these genesATF6CNGA3OPN1LWOPN1MWAbout this report →
- Age-Related Macular DegenerationReads 2 of these genesMFSD8CFHAbout this report →
- Inherited Neurodegenerative DisordersReads 27 of these genesCLN3CLN5CLN8OPA1AGTPBP1CEP290About this report →
- Congenital Stationary Night BlindnessReads 6 of these genesPRPH2RDH5RHORLBP1CACNA1FGUCY2DAbout this report →
- Hereditary Macular DystrophiesReads 4 of these genesPRPH2RDH5RLBP1CYP4V2About this report →
- Colour Vision DeficiencyReads 2 of these genesOPN1LWOPN1MWAbout this report →
- Stargardt DiseaseReads 2 of these genesABCA4PROM1About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 5 of these genesEXOSC3EXOSC8EXOSC9SLC25A46VRK1About this report →
- Lysosomal Storage DiseaseReads 8 of these genesCLN3CLN5CLN8NEU1MFSD8CLN6About this report →
- ADAM9-Related Cone-Rod DystrophyReads 1 of these genesADAM9About this report →
- CACNA2D4-Related RetinopathyReads 1 of these genesCACNA2D4About this report →
- CEP164-Related CiliopathyReads 1 of these genesCEP164About this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- CherubismReads 1 of these genesSH3BP2About this report →
- ChoroideremiaReads 1 of these genesCHMAbout this report →
- Cone-Rod Dystrophy 20 (POC1B)Reads 1 of these genesPOC1BAbout this report →
- GUCY2D-Related Dominant Cone-Rod DystrophyReads 1 of these genesGUCY2DAbout this report →
- GUCY2D-Related Recessive RetinopathyReads 1 of these genesGUCY2DAbout this report →
- Gyrate Atrophy of the Choroid and RetinaReads 1 of these genesOATAbout this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- PNPLA6-Related Ataxia, Retinal Dystrophy and HypogonadismReads 1 of these genesPNPLA6About this report →
- PROM1-Related Recessive RetinopathyReads 1 of these genesPROM1About this report →
- RAB28-Related Cone-Rod DystrophyReads 1 of these genesRAB28About this report →
- Spondylometaphyseal Dysplasia With Cone-Rod DystrophyReads 1 of these genesPCYT1AAbout this report →
- TTLL5-Related RetinopathyReads 1 of these genesTTLL5About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Noonan SyndromeReads 4 of these genesBRAFKRASMAP2K1MAP2K2About this report →
- Rare Hereditary Peripheral NeuropathiesReads 13 of these genesNDUFS2PRPS1OATOPA1MT-ATP6MT-ND1About this report →
- Leigh SyndromeReads 7 of these genesNDUFS2OPA1MT-ATP6MT-ND1MT-ND4MT-ND5About this report →
- VitreoretinopathyReads 4 of these genesRS1COL18A1PAK2ZNF408About this report →
- Familial Isolated Pituitary Adenoma (FIPA / X-LAG)Reads 1 of these genesAIPAbout this report →
- Hereditary Corneal DystrophiesReads 3 of these genesCOL17A1DCNTGFBIAbout this report →
- Hemolytic Uremic Syndrome, Interstitial NephritisReads 2 of these genesCFHCFIAbout this report →
- Bardet-Biedl and Alström SyndromesReads 3 of these genesCEP290CFAP418SDCCAG8About this report →
- Spinal Muscular AtrophyReads 3 of these genesEXOSC3EXOSC8VRK1About this report →
- Hypertrophic CardiomyopathyReads 4 of these genesBRAFKRASMAP2K1MAP2K2About this report →
- Familial Paget Disease of BoneReads 1 of these genesTNFRSF11AAbout this report →
- NeurofibromatosisReads 1 of these genesNF1About this report →
- Joubert Syndrome And Related DisordersReads 3 of these genesCEP290NPHP1ARL3About this report →
- Alzheimer diseaseReads 1 of these genesAPOEAbout this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesSOSTAbout this report →
- Autoimmune DiseaseReads 2 of these genesKRASTREX1About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesPHYHAbout this report →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesCEP290MTTPTPP1About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesNEU1About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR19About this report →
- Hereditary HypolipoproteinemiasReads 1 of these genesMTTPAbout this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesTREX1About this report →
- Hepatic Porphyria DisordersReads 1 of these genesHMBSAbout this report →
- Malignant Endocrine NeoplasmReads 1 of these genesMEN1About this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesPRPS1About this report →
- Primary Mitochondrial DiseaseReads 4 of these genesNDUFS2OPA1CARS2DNAJC30About this report →
- Other Inherited LeukodystrophiesReads 3 of these genesPEX7EPRS1TREX1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesATP1A3ATXN7About this report →
- Autism Spectrum DisorderReads 1 of these genesRIMS1About this report →
- PorphyriaReads 1 of these genesHMBSAbout this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesC19orf12About this report →
- Hearing Loss and DeafnessReads 3 of these genesKARS1PRPS1CDH23About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Usher SyndromeReads 1 of these genesCDH23About this report →
- Type I InterferonopathiesReads 1 of these genesTREX1About this report →
- HyperlipidemiaReads 1 of these genesAPOEAbout this report →
- Other Inborn Errors of ImmunityReads 4 of these genesCFHCFIKRASTREX1About this report →
- OsteopetrosisReads 1 of these genesTNFRSF11AAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX7About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesUCHL1PNPLA6About this report →
- Inherited Complement and Properdin DeficienciesReads 1 of these genesCFIAbout this report →
- Epidermolysis BullosaReads 1 of these genesCOL17A1About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesPRPS1VRK1About this report →
- Syndromic CraniosynostosisReads 1 of these genesWDR19About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesEPRS1About this report →
- Intellectual DisabilityReads 3 of these genesEXOSC3EXOSC8VRK1About this report →
- Thyroid CancerReads 1 of these genesMEN1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesTREX1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesATP1A3About this report →
- Epilepsy (Full Panel)Reads 2 of these genesCLN8ATP1A3About this report →
Olvassa el a(z) Progressive loss of vision nevű génhez kapcsolódó információkat, valamint a genomja többi részét egyetlen teszttel.
449 $-tólIngyenes szállítás · Eredmények 6–8 hét alatt
Kérem a Genome Testemet122 gén kapcsolódik ehhez: Progressive loss of vision
Ezeknek a géneknek a változásai olyan ritka betegségeket okoznak, amelyekben előfordul a(z) Progressive loss of vision. A tulajdonsággal rendelkező emberek többségének nincs ezek közül egyik betegsége sem, a listán szereplő gének pedig semmit nem mondanak el senki saját genomjáról.
| Gén | Milyen gyakran fordul elő | Betegségek |
|---|---|---|
| CDHR1cadherin related family member 1 | Mindig | 2 betegségben |
| CHMCHM Rab escort protein | Mindig | 2 betegségben |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Mindig | 1 betegségben |
| CLN5CLN5 lysosomal BMP synthase | Mindig | 1 betegségben |
| CLN8CLN8 transmembrane ER and ERGIC protein | Mindig | 2 betegségben |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Mindig | 1 betegségben |
| HMBShydroxymethylbilane synthase | Mindig | 1 betegségben |
| IFT140intraflagellar transport 140 | Mindig | 2 betegségben |
| KARS1lysyl-tRNA synthetase 1 | Mindig | 1 betegségben |
| KIAA1549KIAA1549 | Mindig | 1 betegségben |
| MERTKMER proto-oncogene, tyrosine kinase | Mindig | 1 betegségben |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Mindig | 2 betegségben |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Mindig | 1 betegségben |
| RPGRIP1RPGR interacting protein 1 | Mindig | 2 betegségben |
| TNFRSF11ATNF receptor superfamily member 11a | Mindig | 1 betegségben |
| COL17A1collagen type XVII alpha 1 chain | Nagyon gyakran (80–99%) | 1 betegségben |
| NEU1neuraminidase 1 | Nagyon gyakran (80–99%) | 2 betegségben |
| OATornithine aminotransferase | Nagyon gyakran (80–99%) | 1 betegségben |
| OPA1OPA1 mitochondrial dynamin like GTPase | Nagyon gyakran (80–99%) | 2 betegségben |
| PRPH2peripherin 2 | Nagyon gyakran (80–99%) | 2 betegségben |
| RDH11retinol dehydrogenase 11 | Nagyon gyakran (80–99%) | 1 betegségben |
| RDH5retinol dehydrogenase 5 | Nagyon gyakran (80–99%) | 1 betegségben |
| RHOrhodopsin | Nagyon gyakran (80–99%) | 1 betegségben |
| RLBP1retinaldehyde binding protein 1 | Nagyon gyakran (80–99%) | 2 betegségben |
| RS1retinoschisin 1 | Nagyon gyakran (80–99%) | 2 betegségben |
| ABCA4ATP binding cassette subfamily A member 4 | Gyakran (30–79%) | 1 betegségben |
| ADAM9ADAM metallopeptidase domain 9 | Gyakran (30–79%) | 1 betegségben |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Gyakran (30–79%) | 1 betegségben |
| AIPAHR interacting HSP90 co-chaperone | Gyakran (30–79%) | 1 betegségben |
| AIPL1AIP like 1 HSP90 co-chaperone | Gyakran (30–79%) | 1 betegségben |
| ATF6activating transcription factor 6 | Gyakran (30–79%) | 1 betegségben |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Gyakran (30–79%) | 1 betegségben |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Gyakran (30–79%) | 1 betegségben |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Gyakran (30–79%) | 1 betegségben |
| CDH23cadherin related 23 | Gyakran (30–79%) | 2 betegségben |
| CEP164centrosomal protein 164 | Gyakran (30–79%) | 1 betegségben |
| CEP290centrosomal protein 290 | Gyakran (30–79%) | 1 betegségben |
| CFAP410cilia and flagella associated protein 410 | Gyakran (30–79%) | 1 betegségben |
| CFAP418cilia and flagella associated protein 418 | Gyakran (30–79%) | 2 betegségben |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Gyakran (30–79%) | 1 betegségben |
További 82 gén megjelenítése
| Gén | Milyen gyakran fordul elő | Betegségek |
|---|---|---|
| COL18A1collagen type XVIII alpha 1 chain | Gyakran (30–79%) | 1 betegségben |
| CRXcone-rod homeobox | Gyakran (30–79%) | 1 betegségben |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Gyakran (30–79%) | 1 betegségben |
| DRAM2DNA damage regulated autophagy modulator 2 | Gyakran (30–79%) | 1 betegségben |
| EXOSC3exosome component 3 | Gyakran (30–79%) | 1 betegségben |
| EXOSC8exosome component 8 | Gyakran (30–79%) | 1 betegségben |
| EXOSC9exosome component 9 | Gyakran (30–79%) | 1 betegségben |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Gyakran (30–79%) | 1 betegségben |
| GUCA1Aguanylate cyclase activator 1A | Gyakran (30–79%) | 2 betegségben |
| GUCY2Dguanylate cyclase 2D, retinal | Gyakran (30–79%) | 1 betegségben |
| IFT54intraflagellar transport 54 | Gyakran (30–79%) | 1 betegségben |
| INVSinversin | Gyakran (30–79%) | 1 betegségben |
| IQCB1IQ motif containing B1 | Gyakran (30–79%) | 1 betegségben |
| LRP2LDL receptor related protein 2 | Gyakran (30–79%) | 2 betegségben |
| MEN1menin 1 | Gyakran (30–79%) | 1 betegségben |
| MFSD8major facilitator superfamily domain containing 8 | Gyakran (30–79%) | 1 betegségben |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Gyakran (30–79%) | 1 betegségben |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Gyakran (30–79%) | 1 betegségben |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Gyakran (30–79%) | 1 betegségben |
| MT-CYBmitochondrially encoded cytochrome b | Gyakran (30–79%) | 1 betegségben |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Gyakran (30–79%) | 1 betegségben |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Gyakran (30–79%) | 1 betegségben |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Gyakran (30–79%) | 1 betegségben |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Gyakran (30–79%) | 1 betegségben |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Gyakran (30–79%) | 1 betegségben |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Gyakran (30–79%) | 1 betegségben |
| MTTPmicrosomal triglyceride transfer protein | Gyakran (30–79%) | 1 betegségben |
| NF1neurofibromin 1 | Gyakran (30–79%) | 1 betegségben |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Gyakran (30–79%) | 1 betegségben |
| NPHP1nephrocystin 1 | Gyakran (30–79%) | 1 betegségben |
| NPHP3nephrocystin 3 | Gyakran (30–79%) | 1 betegségben |
| NPHP4nephrocystin 4 | Gyakran (30–79%) | 1 betegségben |
| OPN1LWopsin 1, long wave sensitive | Gyakran (30–79%) | 1 betegségben |
| OPN1MWopsin 1, medium wave sensitive | Gyakran (30–79%) | 1 betegségben |
| PAK2p21 (RAC1) activated kinase 2 | Gyakran (30–79%) | 1 betegségben |
| PITPNM3PITPNM family member 3 | Gyakran (30–79%) | 1 betegségben |
| POC1BPOC1 centriolar protein B | Gyakran (30–79%) | 1 betegségben |
| PROM1prominin 1 | Gyakran (30–79%) | 1 betegségben |
| RAB28RAB28, member RAS oncogene family | Gyakran (30–79%) | 1 betegségben |
| RAX2retina and anterior neural fold homeobox 2 | Gyakran (30–79%) | 1 betegségben |
| RIMS1regulating synaptic membrane exocytosis 1 | Gyakran (30–79%) | 1 betegségben |
| RPGRretinitis pigmentosa GTPase regulator | Gyakran (30–79%) | 1 betegségben |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Gyakran (30–79%) | 1 betegségben |
| SEMA4Asemaphorin 4A | Gyakran (30–79%) | 2 betegségben |
| SLC25A46solute carrier family 25 member 46 | Gyakran (30–79%) | 2 betegségben |
| TLCD3BTLC domain containing 3B | Gyakran (30–79%) | 1 betegségben |
| TTLL5tubulin tyrosine ligase like 5 | Gyakran (30–79%) | 1 betegségben |
| UBAP1Lubiquitin associated protein 1 like | Gyakran (30–79%) | 1 betegségben |
| UCHL1ubiquitin C-terminal hydrolase L1 | Gyakran (30–79%) | 1 betegségben |
| UNC119unc-119 lipid binding chaperone | Gyakran (30–79%) | 1 betegségben |
| VRK1VRK serine/threonine kinase 1 | Gyakran (30–79%) | 1 betegségben |
| WDR19WD repeat domain 19 | Gyakran (30–79%) | 1 betegségben |
| PEX7peroxisomal biogenesis factor 7 | Néha (5–29%) | 1 betegségben |
| PHYHphytanoyl-CoA 2-hydroxylase | Néha (5–29%) | 1 betegségben |
| SH3BP2SH3 domain binding protein 2 | Néha (5–29%) | 1 betegségben |
| SONSON DNA and RNA binding protein | Néha (5–29%) | 1 betegségben |
| APOEapolipoprotein E | Nincs rögzítve | 1 betegségben |
| ARL3ARF like GTPase 3 | Nincs rögzítve | 1 betegségben |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nincs rögzítve | 1 betegségben |
| ATXN7ataxin 7 | Nincs rögzítve | 1 betegségben |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Nincs rögzítve | 1 betegségben |
| C19orf12chromosome 19 open reading frame 12 | Nincs rögzítve | 1 betegségben |
| CFHcomplement factor H | Nincs rögzítve | 1 betegségben |
| CFHR1complement factor H related 1 | Nincs rögzítve | 1 betegségben |
| CFHR3complement factor H related 3 | Nincs rögzítve | 1 betegségben |
| CFIcomplement factor I | Nincs rögzítve | 1 betegségben |
| CLN6CLN6 transmembrane ER protein | Nincs rögzítve | 1 betegségben |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Nincs rögzítve | 1 betegségben |
| DCNdecorin | Nincs rögzítve | 1 betegségben |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Nincs rögzítve | 1 betegségben |
| HMCN1hemicentin 1 | Nincs rögzítve | 1 betegségben |
| KRASKRas proto-oncogene, GTPase | Nincs rögzítve | 1 betegségben |
| MAP2K1mitogen-activated protein kinase kinase 1 | Nincs rögzítve | 1 betegségben |
| MAP2K2mitogen-activated protein kinase kinase 2 | Nincs rögzítve | 1 betegségben |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Nincs rögzítve | 1 betegségben |
| PNPLA6patatin like domain 6, lysophospholipase | Nincs rögzítve | 1 betegségben |
| PPT1palmitoyl-protein thioesterase 1 | Nincs rögzítve | 1 betegségben |
| SOSTsclerostin | Nincs rögzítve | 1 betegségben |
| TGFBItransforming growth factor beta induced | Nincs rögzítve | 1 betegségben |
| TPP1tripeptidyl peptidase 1 | Nincs rögzítve | 1 betegségben |
| TREX1three prime repair exonuclease 1 | Nincs rögzítve | 1 betegségben |
| ZNF408zinc finger protein 408 | Nincs rögzítve | 1 betegségben |
Az, hogy milyen gyakran fordul elő a gén valamelyik állapotával élő emberek körében (a leggyakoribb érték, ahogyan a Human Phenotype Ontology rögzíti). Ezek az oldalak tulajdonságokat és az azok mögött álló kutatásokat ismertetik; nem diagnózist jelentenek. A tünetekkel kapcsolatban orvoshoz vagy genetikai tanácsadóhoz érdemes fordulni.
Szűkebb tulajdonságok
Tágabb tulajdonságok
Forrás
- Human Phenotype Ontology, 2026-09-01 kiadás: a tulajdonság, a nevei, a definíciója és a hozzá kapcsolt gének. További információ: hpo.jax.org.
- Adatkiadás: 2026.10.19-9814e911.
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Ingyenes szállítás · Eredmények 6–8 hét alatt
