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Træk
Marked vision impairment
Klinisk navn: Severely reduced visual acuity
Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.
Resumé
- Også kaldet
- Severe visual impairment, Severely impaired vision, Severe reduction in visual acuity, Severe vision loss, Severe visual loss
- Kropssystem
- Abnormality of the eye
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Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/severely-reduced-visual-acuity.json"
page <- fromJSON(url)
page$trait$nameMarked vision impairmentHP:0001141
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Læs de gener, der er knyttet til Marked vision impairment, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test43 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.
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 19 of these genesRPGRIP1AIPL1CEP290CRB1CRXGUCY2DAbout this report →
- VitreoretinopathyReads 7 of these genesKCNJ13LRP5CTNNB1FZD4NDPTSPAN12About this report →
- Retinitis PigmentosaReads 12 of these genesOFD1PROM1CRB1CRXIFT140IMPDH1About this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
Show 39 more reports
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- GUCY2D-Related Dominant Cone-Rod DystrophyReads 1 of these genesGUCY2DAbout this report →
- GUCY2D-Related Recessive RetinopathyReads 1 of these genesGUCY2DAbout this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- Nance-Horan SyndromeReads 1 of these genesNHSAbout this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- PROM1-Related Recessive RetinopathyReads 1 of these genesPROM1About this report →
- RDH12-Related Early-Onset Retinal DystrophyReads 1 of these genesRDH12About this report →
- Spondylometaphyseal Dysplasia With Cone-Rod DystrophyReads 1 of these genesPCYT1AAbout this report →
- TUBB4B-Related CiliopathyReads 1 of these genesTUBB4BAbout this report →
- Hereditary Macular DystrophiesReads 3 of these genesPRPH2CYP4V2TIMP3About this report →
- Congenital Stationary Night BlindnessReads 4 of these genesCACNA1FCABP4GUCY2DPRPH2About this report →
- Wolfram Syndrome & WFS1 SpectrumReads 1 of these genesWFS1About this report →
- RDH5-Related Retinopathy (Fundus Albipunctatus)Reads 1 of these genesPRPH2About this report →
- Stargardt DiseaseReads 1 of these genesPROM1About this report →
- OsteopetrosisReads 2 of these genesLRP5OSTM1About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesGDF6About this report →
- Polycystic Liver Disease (1 and 2)Reads 1 of these genesLRP5About this report →
- Joubert Syndrome And Related DisordersReads 3 of these genesOFD1TMEM216CEP290About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 2 of these genesIQCB1NPHP4About this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesLRP5About this report →
- Bardet-Biedl and Alström SyndromesReads 2 of these genesALMS1CEP290About this report →
- AchromatopsiaReads 1 of these genesCNGB3About this report →
- Hermansky-Pudlak SyndromeReads 1 of these genesHPS1About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Congenital Diarrhoeas & EnteropathiesReads 1 of these genesSTX3About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesTMEM216CEP290About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesCHST6About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesWFS1About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesOTX2About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesOTX2About this report →
- Osteogenesis ImperfectaReads 1 of these genesLRP5About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesOTX2About this report →
- Inherited Neurodegenerative DisordersReads 2 of these genesTMEM216CEP290About this report →
- Hearing Loss and DeafnessReads 1 of these genesWFS1About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesALG3About this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesFDXRAbout this report →
- Intellectual DisabilityReads 1 of these genesCTNNB1About this report →
Læs de gener, der er knyttet til Marked vision impairment, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test55 gener knyttet til Marked vision impairment
Ændringer i disse gener forårsager sjældne tilstande, hvor Marked vision impairment 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 |
|---|---|---|
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Altid | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Altid | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Altid | I 1 tilstand |
| PROM1prominin 1 | Altid | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Altid | I 3 tilstande |
| TMEM216transmembrane protein 216 | Altid | I 1 tilstand |
| UBAP1Lubiquitin associated protein 1 like | Altid | I 1 tilstand |
| ZNF513zinc finger protein 513 | Altid | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Meget ofte (80–99 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Meget ofte (80–99 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Meget ofte (80–99 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CRXcone-rod homeobox | Meget ofte (80–99 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Meget ofte (80–99 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Meget ofte (80–99 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IQCB1IQ motif containing B1 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Meget ofte (80–99 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Meget ofte (80–99 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Meget ofte (80–99 %) | I 1 tilstand |
| PRPH2peripherin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RD3RD3 regulator of GUCY2D | Meget ofte (80–99 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Meget ofte (80–99 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Meget ofte (80–99 %) | I 2 tilstande |
| SPATA7spermatogenesis associated 7 | Meget ofte (80–99 %) | I 1 tilstand |
| STX3syntaxin 3 | Meget ofte (80–99 %) | I 1 tilstand |
| TUBB4Btubulin beta 4B class IVb | Meget ofte (80–99 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| USP45ubiquitin specific peptidase 45 | Meget ofte (80–99 %) | I 1 tilstand |
| C1QTNF5C1q and TNF related 5 | Ofte (30–79 %) | I 1 tilstand |
| CHST6carbohydrate sulfotransferase 6 | Ofte (30–79 %) | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Ofte (30–79 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Ofte (30–79 %) | I 2 tilstande |
Vis 15 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FZD4frizzled class receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Nogle gange (5–29 %) | I 1 tilstand |
| TIMP3TIMP metallopeptidase inhibitor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TSPAN12tetraspanin 12 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ikke registreret | I 1 tilstand |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Ikke registreret | I 1 tilstand |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Ikke registreret | I 1 tilstand |
| NHSNHS actin remodeling regulator | Ikke registreret | I 1 tilstand |
| NPHP4nephrocystin 4 | Ikke registreret | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | 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.
Bredere træk
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 2026.10.19-9814e911.
AtlasHvem vi hjælperVores videnskabProdukterResultater
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Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
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