Træk
Visual loss
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
Resumé
- Også kaldet
- Loss of vision, Vision 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 Test166 gener knyttet til Visual loss
Ændringer i disse gener forårsager sjældne tilstande, hvor Visual loss 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 |
|---|---|---|
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Altid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Altid | I 1 tilstand |
| MYO7Amyosin VIIA | Altid | I 3 tilstande |
| PEX13peroxisomal biogenesis factor 13 | Altid | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Altid | I 1 tilstand |
| SOSTsclerostin | Altid | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Altid | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Altid | I 2 tilstande |
| TEFMtranscription elongation factor, mitochondrial | Altid | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Altid | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Altid | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Altid | I 1 tilstand |
| USH1CUSH1 protein network component harmonin | Altid | I 2 tilstande |
| ADGRV1adhesion G protein-coupled receptor V1 | Meget ofte (80–99 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Meget ofte (80–99 %) | I 2 tilstande |
| ARSGarylsulfatase G | Meget ofte (80–99 %) | I 1 tilstand |
| CDH23cadherin related 23 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP78centrosomal protein 78 | Meget ofte (80–99 %) | I 1 tilstand |
| CFHcomplement factor H | Meget ofte (80–99 %) | I 1 tilstand |
| CFIcomplement factor I | Meget ofte (80–99 %) | I 1 tilstand |
| CLRN1clarin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ELMO2engulfment and cell motility 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ESPNespin | Meget ofte (80–99 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Meget ofte (80–99 %) | I 1 tilstand |
| HARS1histidyl-tRNA synthetase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HLA-Amajor histocompatibility complex, class I, A | Meget ofte (80–99 %) | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Meget ofte (80–99 %) | I 2 tilstande |
| NHSNHS actin remodeling regulator | Meget ofte (80–99 %) | I 2 tilstande |
| PAX6paired box 6 | Meget ofte (80–99 %) | I 1 tilstand |
| PCDH15protocadherin related 15 | Meget ofte (80–99 %) | I 1 tilstand |
| PDZD7PDZ domain containing 7 | Meget ofte (80–99 %) | I 1 tilstand |
| SNX10sorting nexin 10 | Meget ofte (80–99 %) | I 1 tilstand |
| TGFBItransforming growth factor beta induced | Meget ofte (80–99 %) | I 1 tilstand |
| TIMP3TIMP metallopeptidase inhibitor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIM44TRIM family member 44 | Meget ofte (80–99 %) | I 1 tilstand |
| USH1GUSH1 protein network component sans | Meget ofte (80–99 %) | I 1 tilstand |
Vis 126 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| USH2Ausherin | Meget ofte (80–99 %) | I 1 tilstand |
| WHRNwhirlin | Meget ofte (80–99 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Meget ofte (80–99 %) | I 1 tilstand |
| AGBL1AGBL carboxypeptidase 1 | Ofte (30–79 %) | I 1 tilstand |
| ATXN7ataxin 7 | Ofte (30–79 %) | I 1 tilstand |
| C1QTNF5C1q and TNF related 5 | Ofte (30–79 %) | I 2 tilstande |
| COL18A1collagen type XVIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL8A2collagen type VIII alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| GALCgalactosylceramidase | Ofte (30–79 %) | I 3 tilstande |
| GATA2GATA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GJB2gap junction protein beta 2 | Ofte (30–79 %) | I 1 tilstand |
| GJB6gap junction protein beta 6 | Ofte (30–79 %) | I 1 tilstand |
| GUCA1Aguanylate cyclase activator 1A | Ofte (30–79 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Ofte (30–79 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| LAMC3laminin subunit gamma 3 | Ofte (30–79 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofte (30–79 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ofte (30–79 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 2 tilstande |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 2 tilstande |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 2 tilstande |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 2 tilstande |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ofte (30–79 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ofte (30–79 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 1 tilstand |
| PAK2p21 (RAC1) activated kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| PMPCBpeptidase, mitochondrial processing subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PRDM5PR/SET domain 5 | Ofte (30–79 %) | I 1 tilstand |
| PRPH2peripherin 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC4A11solute carrier family 4 member 11 | Ofte (30–79 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| SOX2SRY-box transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| TCF4transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| ZEB1zinc finger E-box binding homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| ZNF469zinc finger protein 469 | Ofte (30–79 %) | I 2 tilstande |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Nogle gange (5–29 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD55ankyrin repeat domain 55 | Nogle gange (5–29 %) | I 1 tilstand |
| CCND1cyclin D1 | Nogle gange (5–29 %) | I 1 tilstand |
| CD247CD247 molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP41centrosomal protein 41 | Nogle gange (5–29 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Nogle gange (5–29 %) | I 2 tilstande |
| COX7Bcytochrome c oxidase subunit 7B | Nogle gange (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3BDNA methyltransferase 3 beta | Nogle gange (5–29 %) | I 1 tilstand |
| DUX4double homeobox 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Nogle gange (5–29 %) | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FRG1FSHD region gene 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNAQG protein subunit alpha q | Nogle gange (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Nogle gange (5–29 %) | I 2 tilstande |
| IL2RAinterleukin 2 receptor subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Nogle gange (5–29 %) | I 1 tilstand |
| KCTD7potassium channel tetramerization domain containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MKS1MKS transition zone complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MMP1matrix metallopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MYOCmyocilin | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Nogle gange (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Nogle gange (5–29 %) | I 2 tilstande |
| NOD2nucleotide binding oligomerization domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PGK1phosphoglycerate kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC19A2solute carrier family 19 member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC52A2solute carrier family 52 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TATtyrosine aminotransferase | Nogle gange (5–29 %) | I 1 tilstand |
| TEKTEK receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Nogle gange (5–29 %) | I 1 tilstand |
| VCANversican | Nogle gange (5–29 %) | I 2 tilstande |
| VHLvon Hippel-Lindau tumor suppressor | Nogle gange (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Nogle gange (5–29 %) | I 1 tilstand |
| GNASGNAS complex locus | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| ABCA4ATP binding cassette subfamily A member 4 | Ikke registreret | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Ikke registreret | I 1 tilstand |
| ALPK1alpha kinase 1 | Ikke registreret | I 1 tilstand |
| APTXaprataxin | Ikke registreret | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ikke registreret | I 1 tilstand |
| BCORBCL6 corepressor | Ikke registreret | I 1 tilstand |
| BTDbiotinidase | Ikke registreret | I 1 tilstand |
| CA2carbonic anhydrase 2 | Ikke registreret | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Ikke registreret | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registreret | I 1 tilstand |
| CTSDcathepsin D | Ikke registreret | I 1 tilstand |
| EPM2AEPM2A glucan phosphatase, laforin | Ikke registreret | I 1 tilstand |
| IFT140intraflagellar transport 140 | Ikke registreret | I 1 tilstand |
| LCA5lebercilin LCA5 | Ikke registreret | I 1 tilstand |
| LSSlanosterol synthase | Ikke registreret | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ikke registreret | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ikke registreret | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Ikke registreret | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Ikke registreret | I 1 tilstand |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Ikke registreret | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registreret | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Ikke registreret | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ikke registreret | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ikke registreret | I 1 tilstand |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Ikke registreret | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ikke registreret | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | 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