Træk
Cerebral visual impairment
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
Resumé
- Også kaldet
- Cortical blindness, Cortical visual impairment, Cortical/cerebral visual impairment, CVI
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test204 gener knyttet til Cerebral visual impairment
Ændringer i disse gener forårsager sjældne tilstande, hvor Cerebral visual 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 |
|---|---|---|
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Altid | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Altid | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Altid | I 1 tilstand |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Altid | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Altid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Altid | I 1 tilstand |
| COL4A2collagen type IV alpha 2 chain | Altid | I 1 tilstand |
| COPB2coat protein complex I subunit beta 2 | Altid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Altid | I 1 tilstand |
| DIAPH1diaphanous related formin 1 | Altid | I 2 tilstande |
| DOCK7dedicator of cytokinesis 7 | Altid | I 2 tilstande |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Altid | I 1 tilstand |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Altid | I 2 tilstande |
| NDC1NDC1 transmembrane nucleoporin | Altid | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Altid | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Altid | I 1 tilstand |
| PDSS2decaprenyl diphosphate synthase subunit 2 | Altid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 2 tilstande |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altid | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Altid | I 2 tilstande |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Altid | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Altid | I 2 tilstande |
| PUM1pumilio RNA binding family member 1 | Altid | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Altid | I 2 tilstande |
| RNF13ring finger protein 13 | Altid | I 2 tilstande |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Altid | I 1 tilstand |
| SLC31A1solute carrier family 31 member 1 | Altid | I 1 tilstand |
| SUOXsulfite oxidase | Altid | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Altid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Altid | I 1 tilstand |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Altid | I 1 tilstand |
Vis 164 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| TSEN2tRNA splicing endonuclease subunit 2 | Altid | I 2 tilstande |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| VPS51VPS51 subunit of GARP complex | Altid | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Meget ofte (80–99 %) | I 2 tilstande |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RAB18RAB18, member RAS oncogene family | Meget ofte (80–99 %) | I 2 tilstande |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Meget ofte (80–99 %) | I 1 tilstand |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Meget ofte (80–99 %) | I 2 tilstande |
| ADARB1adenosine deaminase RNA specific B1 | Ofte (30–79 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Ofte (30–79 %) | I 2 tilstande |
| AFG2BAAA ATPase AFG2B | Ofte (30–79 %) | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| ATN1atrophin 1 | Ofte (30–79 %) | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 2 tilstande |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 4 tilstande |
| CERT1ceramide transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Ofte (30–79 %) | I 1 tilstand |
| CLCN6Cl-/H+ antiporter 6 | Ofte (30–79 %) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Ofte (30–79 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 4 tilstande |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Ofte (30–79 %) | I 1 tilstand |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Ofte (30–79 %) | I 2 tilstande |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 4 tilstande |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 4 tilstande |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| FCSKfucose kinase | Ofte (30–79 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Ofte (30–79 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 4 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| FLVCR1FLVCR choline and heme transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 4 tilstande |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 4 tilstande |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 4 tilstande |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Ofte (30–79 %) | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 2 tilstande |
| KIF5Akinesin family member 5A | Ofte (30–79 %) | I 1 tilstand |
| LMNB1lamin B1 | Ofte (30–79 %) | I 1 tilstand |
| MTHFSmethenyltetrahydrofolate synthetase | Ofte (30–79 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Ofte (30–79 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 4 tilstande |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Ofte (30–79 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Ofte (30–79 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| POLR3GLRNA polymerase III subunit GL | Ofte (30–79 %) | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 2 tilstande |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 4 tilstande |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 4 tilstande |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 4 tilstande |
| SLC35A2solute carrier family 35 member A2 | Ofte (30–79 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 2 tilstande |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 4 tilstande |
| SV2Asynaptic vesicle glycoprotein 2A | Ofte (30–79 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Ofte (30–79 %) | I 2 tilstande |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 4 tilstande |
| TRA2Btransformer 2 beta homolog | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC12trafficking protein particle complex subunit 12 | Ofte (30–79 %) | I 2 tilstande |
| VAMP2vesicle associated membrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 4 tilstande |
| ADA2adenosine deaminase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ARPC4actin related protein 2/3 complex subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Nogle gange (5–29 %) | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Nogle gange (5–29 %) | I 2 tilstande |
| CHD3chromodomain helicase DNA binding protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CHKAcholine kinase alpha | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Nogle gange (5–29 %) | I 2 tilstande |
| COG5component of oligomeric golgi complex 5 | Nogle gange (5–29 %) | I 1 tilstand |
| CPSF3cleavage and polyadenylation specific factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DOHHdeoxyhypusine hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nogle gange (5–29 %) | I 2 tilstande |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FHfumarate hydratase | Nogle gange (5–29 %) | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLYCTKglycerate kinase | Nogle gange (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| HK1hexokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF1Akinesin family member 1A | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| MACF1microtubule actin crosslinking factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MAP2K1mitogen-activated protein kinase kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| PET100PET100 cytochrome c oxidase chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Nogle gange (5–29 %) | I 2 tilstande |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Nogle gange (5–29 %) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SELENOIselenoprotein I | Nogle gange (5–29 %) | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Nogle gange (5–29 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A1solute carrier family 25 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| TANGO2transport and golgi organization 2 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM237transmembrane protein 237 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM53transmembrane protein 53 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Nogle gange (5–29 %) | I 1 tilstand |
| TTI1TELO2 interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBGCP2tubulin gamma complex component 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Nogle gange (5–29 %) | I 1 tilstand |
| FBXW7F-box and WD repeat domain containing 7 | Sjældent (1–4%) | I 1 tilstand |
| H3-3AH3.3 histone A | Sjældent (1–4%) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sjældent (1–4%) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Sjældent (1–4%) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Sjældent (1–4%) | I 1 tilstand |
| ARHGDIARho GDP dissociation inhibitor alpha | Ikke registreret | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ikke registreret | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ikke registreret | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ikke registreret | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ikke registreret | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ikke registreret | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ikke registreret | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Ikke registreret | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ikke registreret | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ikke registreret | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ikke registreret | I 1 tilstand |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Ikke registreret | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ikke registreret | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ikke registreret | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ikke registreret | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ikke registreret | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ikke registreret | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ikke registreret | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ikke registreret | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ikke registreret | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ikke registreret | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ikke registreret | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ikke registreret | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ikke registreret | I 1 tilstand |
| SPTBN4spectrin beta, non-erythrocytic 4 | Ikke registreret | I 1 tilstand |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | 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 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger