Cecha
Cerebral visual impairment
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
Podsumowanie
- Znana także jako
- Cortical blindness, Cortical visual impairment, Cortical/cerebral visual impairment, CVI
- Układ organizmu
- Abnormality of the eye
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Cerebral visual impairment, and the rest of your genome, with one test.
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Zamawiam Genome Test204 genów powiązanych z Cerebral visual impairment
Zmiany w tych genach powodują rzadkie choroby, w których występuje Cerebral visual impairment. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Zawsze | W 1 chorobie |
| BORCS8BLOC-1 related complex subunit 8 | Zawsze | W 1 chorobie |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Zawsze | W 1 chorobie |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Zawsze | W 1 chorobie |
| CCDC47coiled-coil domain containing 47 | Zawsze | W 1 chorobie |
| CCT3chaperonin containing TCP1 subunit 3 | Zawsze | W 1 chorobie |
| COL4A2collagen type IV alpha 2 chain | Zawsze | W 1 chorobie |
| COPB2coat protein complex I subunit beta 2 | Zawsze | W 1 chorobie |
| COX6B1cytochrome c oxidase subunit 6B1 | Zawsze | W 1 chorobie |
| DIAPH1diaphanous related formin 1 | Zawsze | W 2 chorobach |
| DOCK7dedicator of cytokinesis 7 | Zawsze | W 2 chorobach |
| EIF4A2eukaryotic translation initiation factor 4A2 | Zawsze | W 1 chorobie |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Zawsze | W 1 chorobie |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Zawsze | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Zawsze | W 1 chorobie |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 1 chorobie |
| NADK2NAD kinase 2, mitochondrial | Zawsze | W 2 chorobach |
| NDC1NDC1 transmembrane nucleoporin | Zawsze | W 1 chorobie |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Zawsze | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Zawsze | W 1 chorobie |
| PDSS2decaprenyl diphosphate synthase subunit 2 | Zawsze | W 1 chorobie |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Zawsze | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zawsze | W 2 chorobach |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Zawsze | W 1 chorobie |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Zawsze | W 2 chorobach |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Zawsze | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Zawsze | W 2 chorobach |
| PUM1pumilio RNA binding family member 1 | Zawsze | W 1 chorobie |
| REREarginine-glutamic acid dipeptide repeats | Zawsze | W 2 chorobach |
| RNF13ring finger protein 13 | Zawsze | W 2 chorobach |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| SLC25A19solute carrier family 25 member 19 | Zawsze | W 1 chorobie |
| SLC31A1solute carrier family 31 member 1 | Zawsze | W 1 chorobie |
| SUOXsulfite oxidase | Zawsze | W 1 chorobie |
| TBC1D32TBC1 domain family member 32 | Zawsze | W 1 chorobie |
| TMEM63Btransmembrane protein 63B | Zawsze | W 1 chorobie |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Zawsze | W 1 chorobie |
Pokaż jeszcze 164 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| TSEN2tRNA splicing endonuclease subunit 2 | Zawsze | W 2 chorobach |
| UNC13Aunc-13 homolog A | Zawsze | W 1 chorobie |
| VPS51VPS51 subunit of GARP complex | Zawsze | W 1 chorobie |
| NAGAalpha-N-acetylgalactosaminidase | Bardzo często (80–99%) | W 2 chorobach |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Bardzo często (80–99%) | W 2 chorobach |
| RAB18RAB18, member RAS oncogene family | Bardzo często (80–99%) | W 2 chorobach |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Bardzo często (80–99%) | W 1 chorobie |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| TBC1D20TBC1 domain family member 20 | Bardzo często (80–99%) | W 1 chorobie |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Bardzo często (80–99%) | W 2 chorobach |
| ADARB1adenosine deaminase RNA specific B1 | Często (30–79%) | W 1 chorobie |
| AFG2AAAA ATPase AFG2A | Często (30–79%) | W 2 chorobach |
| AFG2BAAA ATPase AFG2B | Często (30–79%) | W 1 chorobie |
| AMPD2adenosine monophosphate deaminase 2 | Często (30–79%) | W 1 chorobie |
| ATN1atrophin 1 | Często (30–79%) | W 1 chorobie |
| BRAT1BRCA1 associated ATM activator 1 | Często (30–79%) | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Często (30–79%) | W 1 chorobie |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Często (30–79%) | W 2 chorobach |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Często (30–79%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Często (30–79%) | W 2 chorobach |
| CDONcell adhesion associated, oncogene regulated | Często (30–79%) | W 4 chorobach |
| CERT1ceramide transporter 1 | Często (30–79%) | W 1 chorobie |
| CHMP1Acharged multivesicular body protein 1A | Często (30–79%) | W 1 chorobie |
| CLCN6Cl-/H+ antiporter 6 | Często (30–79%) | W 1 chorobie |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Często (30–79%) | W 1 chorobie |
| COQ4coenzyme Q4 | Często (30–79%) | W 1 chorobie |
| CRIPTOcripto, EGF-CFC family member | Często (30–79%) | W 4 chorobach |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Często (30–79%) | W 1 chorobie |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Często (30–79%) | W 2 chorobach |
| DISP1dispatched RND transporter family member 1 | Często (30–79%) | W 4 chorobach |
| DLL1delta like canonical Notch ligand 1 | Często (30–79%) | W 4 chorobach |
| DTYMKdeoxythymidylate kinase | Często (30–79%) | W 1 chorobie |
| FCSKfucose kinase | Często (30–79%) | W 1 chorobie |
| FGF12fibroblast growth factor 12 | Często (30–79%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Często (30–79%) | W 4 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 2 chorobach |
| FLVCR1FLVCR choline and heme transporter 1 | Często (30–79%) | W 1 chorobie |
| FOXH1forkhead box H1 | Często (30–79%) | W 4 chorobach |
| GAS1growth arrest specific 1 | Często (30–79%) | W 4 chorobach |
| GLI2GLI family zinc finger 2 | Często (30–79%) | W 4 chorobach |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Często (30–79%) | W 2 chorobach |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Często (30–79%) | W 1 chorobie |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Często (30–79%) | W 1 chorobie |
| KAT6Alysine acetyltransferase 6A | Często (30–79%) | W 2 chorobach |
| KIF5Akinesin family member 5A | Często (30–79%) | W 1 chorobie |
| LMNB1lamin B1 | Często (30–79%) | W 1 chorobie |
| MTHFSmethenyltetrahydrofolate synthetase | Często (30–79%) | W 1 chorobie |
| NEUROD2neuronal differentiation 2 | Często (30–79%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Często (30–79%) | W 4 chorobach |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Często (30–79%) | W 1 chorobie |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Często (30–79%) | W 1 chorobie |
| PLCH1phospholipase C eta 1 | Często (30–79%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Często (30–79%) | W 1 chorobie |
| POLR3GLRNA polymerase III subunit GL | Często (30–79%) | W 1 chorobie |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Często (30–79%) | W 2 chorobach |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Często (30–79%) | W 1 chorobie |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Często (30–79%) | W 1 chorobie |
| PTCH1patched 1 | Często (30–79%) | W 4 chorobach |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Często (30–79%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Często (30–79%) | W 4 chorobach |
| SIX3SIX homeobox 3 | Często (30–79%) | W 4 chorobach |
| SLC35A2solute carrier family 35 member A2 | Często (30–79%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Często (30–79%) | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Często (30–79%) | W 2 chorobach |
| STILSTIL centriolar assembly protein | Często (30–79%) | W 4 chorobach |
| SV2Asynaptic vesicle glycoprotein 2A | Często (30–79%) | W 1 chorobie |
| TBCKTBC1 domain containing kinase | Często (30–79%) | W 1 chorobie |
| TELO2telomere maintenance 2 | Często (30–79%) | W 2 chorobach |
| TGIF1TGFB induced factor homeobox 1 | Często (30–79%) | W 4 chorobach |
| TRA2Btransformer 2 beta homolog | Często (30–79%) | W 1 chorobie |
| TRAPPC12trafficking protein particle complex subunit 12 | Często (30–79%) | W 2 chorobach |
| VAMP2vesicle associated membrane protein 2 | Często (30–79%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Często (30–79%) | W 4 chorobach |
| ADA2adenosine deaminase 2 | Czasami (5–29%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Czasami (5–29%) | W 1 chorobie |
| AFF3ALF transcription elongation factor 3 | Czasami (5–29%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Czasami (5–29%) | W 2 chorobach |
| ARPC4actin related protein 2/3 complex subunit 4 | Czasami (5–29%) | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Czasami (5–29%) | W 1 chorobie |
| CC2D2Acoiled-coil and C2 domain containing 2A | Czasami (5–29%) | W 1 chorobie |
| CEP85Lcentrosomal protein 85L | Czasami (5–29%) | W 2 chorobach |
| CHD3chromodomain helicase DNA binding protein 3 | Czasami (5–29%) | W 1 chorobie |
| CHKAcholine kinase alpha | Czasami (5–29%) | W 1 chorobie |
| CLCN4Cl-/H+ antiporter 4 | Czasami (5–29%) | W 2 chorobach |
| COG5component of oligomeric golgi complex 5 | Czasami (5–29%) | W 1 chorobie |
| CPSF3cleavage and polyadenylation specific factor 3 | Czasami (5–29%) | W 1 chorobie |
| DOHHdeoxyhypusine hydroxylase | Czasami (5–29%) | W 1 chorobie |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Czasami (5–29%) | W 2 chorobach |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| EMC1ER membrane protein complex subunit 1 | Czasami (5–29%) | W 2 chorobach |
| FHfumarate hydratase | Czasami (5–29%) | W 1 chorobie |
| FTH1ferritin heavy chain 1 | Czasami (5–29%) | W 1 chorobie |
| GLYCTKglycerate kinase | Czasami (5–29%) | W 1 chorobie |
| GNB1G protein subunit beta 1 | Czasami (5–29%) | W 2 chorobach |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GRM7glutamate metabotropic receptor 7 | Czasami (5–29%) | W 1 chorobie |
| HK1hexokinase 1 | Czasami (5–29%) | W 1 chorobie |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Czasami (5–29%) | W 1 chorobie |
| KIF1Akinesin family member 1A | Czasami (5–29%) | W 1 chorobie |
| KMT2Blysine methyltransferase 2B | Czasami (5–29%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Czasami (5–29%) | W 1 chorobie |
| MACF1microtubule actin crosslinking factor 1 | Czasami (5–29%) | W 2 chorobach |
| MAP2K1mitogen-activated protein kinase kinase 1 | Czasami (5–29%) | W 1 chorobie |
| MAP2K2mitogen-activated protein kinase kinase 2 | Czasami (5–29%) | W 1 chorobie |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Czasami (5–29%) | W 1 chorobie |
| PET100PET100 cytochrome c oxidase chaperone | Czasami (5–29%) | W 1 chorobie |
| PHGDHphosphoglycerate dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| POLG2DNA polymerase gamma 2, accessory subunit | Czasami (5–29%) | W 2 chorobach |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Czasami (5–29%) | W 1 chorobie |
| PRUNE1prune exopolyphosphatase 1 | Czasami (5–29%) | W 1 chorobie |
| PYCR2pyrroline-5-carboxylate reductase 2 | Czasami (5–29%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Czasami (5–29%) | W 1 chorobie |
| SELENOIselenoprotein I | Czasami (5–29%) | W 1 chorobie |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Czasami (5–29%) | W 1 chorobie |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Czasami (5–29%) | W 1 chorobie |
| SLC25A1solute carrier family 25 member 1 | Czasami (5–29%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 1 chorobie |
| SONSON DNA and RNA binding protein | Czasami (5–29%) | W 2 chorobach |
| TANGO2transport and golgi organization 2 homolog | Czasami (5–29%) | W 1 chorobie |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Czasami (5–29%) | W 2 chorobach |
| TMEM237transmembrane protein 237 | Czasami (5–29%) | W 1 chorobie |
| TMEM53transmembrane protein 53 | Czasami (5–29%) | W 1 chorobie |
| TRAF7TNF receptor associated factor 7 | Czasami (5–29%) | W 1 chorobie |
| TSEN15tRNA splicing endonuclease subunit 15 | Czasami (5–29%) | W 1 chorobie |
| TSEN34tRNA splicing endonuclease subunit 34 | Czasami (5–29%) | W 1 chorobie |
| TSEN54tRNA splicing endonuclease subunit 54 | Czasami (5–29%) | W 1 chorobie |
| TTI1TELO2 interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| TUBGCP2tubulin gamma complex component 2 | Czasami (5–29%) | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| WSB2WD repeat and SOCS box containing 2 | Czasami (5–29%) | W 1 chorobie |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Czasami (5–29%) | W 1 chorobie |
| FBXW7F-box and WD repeat domain containing 7 | Rzadko (1–4%) | W 1 chorobie |
| H3-3AH3.3 histone A | Rzadko (1–4%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Rzadko (1–4%) | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Rzadko (1–4%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Rzadko (1–4%) | W 1 chorobie |
| ARHGDIARho GDP dissociation inhibitor alpha | Nie odnotowano | W 1 chorobie |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Nie odnotowano | W 1 chorobie |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Nie odnotowano | W 1 chorobie |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Nie odnotowano | W 1 chorobie |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Nie odnotowano | W 1 chorobie |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Nie odnotowano | W 1 chorobie |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Nie odnotowano | W 1 chorobie |
| MT-CYBmitochondrially encoded cytochrome b | Nie odnotowano | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nie odnotowano | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nie odnotowano | W 1 chorobie |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nie odnotowano | W 1 chorobie |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Nie odnotowano | W 1 chorobie |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Nie odnotowano | W 1 chorobie |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Nie odnotowano | W 1 chorobie |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Nie odnotowano | W 1 chorobie |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nie odnotowano | W 1 chorobie |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Nie odnotowano | W 1 chorobie |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Nie odnotowano | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Nie odnotowano | W 1 chorobie |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Nie odnotowano | W 1 chorobie |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Nie odnotowano | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nie odnotowano | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Nie odnotowano | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Nie odnotowano | W 1 chorobie |
| SPTBN4spectrin beta, non-erythrocytic 4 | Nie odnotowano | W 1 chorobie |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni