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Požymis
Abnormal color vision
Klinikinis pavadinimas: Color vision defect
An anomaly in the ability to discriminate between or recognize colors.
Santrauka
- Taip pat vadinama
- Abnormality of color vision, Color vision defect, severe, Color vision defects, Abnormal colour vision, Abnormality of colour vision, Colour vision defect, Disturbed color vision, Disturbed colour vision
- Kūno sistema
- Abnormality of the eye
Abnormal color visionHP:0000551
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Read the genes linked to Abnormal color vision, and the rest of your genome, with one test.
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Įsigyti savo Genome Test213 genų susiję su Abnormal color vision
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Abnormal color vision. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Visada | 4 ligose |
| CRXcone-rod homeobox | Visada | 3 ligose |
| PDXKpyridoxal kinase | Visada | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Visada | 3 ligose |
| RPGRIP1RPGR interacting protein 1 | Visada | 3 ligose |
| RTN4IP1reticulon 4 interacting protein 1 | Visada | 1 ligoje |
| TULP1TUB like protein 1 | Visada | 2 ligose |
| UBAP1Lubiquitin associated protein 1 like | Visada | 2 ligose |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| ATF6activating transcription factor 6 | Labai dažnai (80–99%) | 2 ligose |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Labai dažnai (80–99%) | 3 ligose |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Labai dažnai (80–99%) | 2 ligose |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Labai dažnai (80–99%) | 3 ligose |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Labai dažnai (80–99%) | 1 ligoje |
| ELOVL4ELOVL fatty acid elongase 4 | Labai dažnai (80–99%) | 1 ligoje |
| GNAT2G protein subunit alpha transducin 2 | Labai dažnai (80–99%) | 2 ligose |
| GUCA1Aguanylate cyclase activator 1A | Labai dažnai (80–99%) | 2 ligose |
| PDE6Cphosphodiesterase 6C | Labai dažnai (80–99%) | 2 ligose |
| PDE6Hphosphodiesterase 6H | Labai dažnai (80–99%) | 1 ligoje |
| PROM1prominin 1 | Labai dažnai (80–99%) | 4 ligose |
| PRPH2peripherin 2 | Labai dažnai (80–99%) | 5 ligose |
| RPGRretinitis pigmentosa GTPase regulator | Labai dažnai (80–99%) | 5 ligose |
| ADAM9ADAM metallopeptidase domain 9 | Dažnai (30–79%) | 1 ligoje |
| AIPL1AIP like 1 HSP90 co-chaperone | Dažnai (30–79%) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Dažnai (30–79%) | 2 ligose |
| ALMS1ALMS1 centrosome and basal body associated protein | Dažnai (30–79%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Dažnai (30–79%) | 2 ligose |
| BBIP1BBSome interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Dažnai (30–79%) | 2 ligose |
| BBS10Bardet-Biedl syndrome 10 | Dažnai (30–79%) | 1 ligoje |
| BBS12Bardet-Biedl syndrome 12 | Dažnai (30–79%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Dažnai (30–79%) | 2 ligose |
| BBS4Bardet-Biedl syndrome 4 | Dažnai (30–79%) | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Dažnai (30–79%) | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Dažnai (30–79%) | 1 ligoje |
| BBS9Bardet-Biedl syndrome 9 | Dažnai (30–79%) | 1 ligoje |
| BEST1bestrophin 1 | Dažnai (30–79%) | 4 ligose |
| CABP4calcium binding protein 4 | Dažnai (30–79%) | 2 ligose |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Dažnai (30–79%) | 1 ligoje |
| CDHR1cadherin related family member 1 | Dažnai (30–79%) | 3 ligose |
Rodyti dar 173 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CEP19centrosomal protein 19 | Dažnai (30–79%) | 1 ligoje |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Dažnai (30–79%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Dažnai (30–79%) | 3 ligose |
| DNM1Ldynamin 1L | Dažnai (30–79%) | 1 ligoje |
| DRAM2DNA damage regulated autophagy modulator 2 | Dažnai (30–79%) | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Dažnai (30–79%) | 2 ligose |
| GUCY2Dguanylate cyclase 2D, retinal | Dažnai (30–79%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Dažnai (30–79%) | 2 ligose |
| IFT27intraflagellar transport 27 | Dažnai (30–79%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Dažnai (30–79%) | 1 ligoje |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Dažnai (30–79%) | 2 ligose |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Dažnai (30–79%) | 2 ligose |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Dažnai (30–79%) | 1 ligoje |
| LCA5lebercilin LCA5 | Dažnai (30–79%) | 1 ligoje |
| LRATlecithin retinol acyltransferase | Dažnai (30–79%) | 2 ligose |
| LZTFL1leucine zipper transcription factor like 1 | Dažnai (30–79%) | 1 ligoje |
| MFSD8major facilitator superfamily domain containing 8 | Dažnai (30–79%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Dažnai (30–79%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Dažnai (30–79%) | 1 ligoje |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Dažnai (30–79%) | 2 ligose |
| NPHP1nephrocystin 1 | Dažnai (30–79%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Dažnai (30–79%) | 2 ligose |
| OPA1OPA1 mitochondrial dynamin like GTPase | Dažnai (30–79%) | 1 ligoje |
| OPN1LWopsin 1, long wave sensitive | Dažnai (30–79%) | 2 ligose |
| OPN1MWopsin 1, medium wave sensitive | Dažnai (30–79%) | 2 ligose |
| OTX2orthodenticle homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| PITPNM3PITPNM family member 3 | Dažnai (30–79%) | 2 ligose |
| POC1BPOC1 centriolar protein B | Dažnai (30–79%) | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Dažnai (30–79%) | 1 ligoje |
| RAB28RAB28, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RAX2retina and anterior neural fold homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| RIMS1regulating synaptic membrane exocytosis 1 | Dažnai (30–79%) | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Dažnai (30–79%) | 2 ligose |
| SCAPERS-phase cyclin A associated protein in the ER | Dažnai (30–79%) | 2 ligose |
| SCLT1sodium channel and clathrin linker 1 | Dažnai (30–79%) | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Dažnai (30–79%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Dažnai (30–79%) | 2 ligose |
| SPATA7spermatogenesis associated 7 | Dažnai (30–79%) | 2 ligose |
| TLCD3BTLC domain containing 3B | Dažnai (30–79%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Dažnai (30–79%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Dažnai (30–79%) | 2 ligose |
| TTLL5tubulin tyrosine ligase like 5 | Dažnai (30–79%) | 1 ligoje |
| UNC119unc-119 lipid binding chaperone | Dažnai (30–79%) | 2 ligose |
| WDPCPWD repeat containing planar cell polarity effector | Dažnai (30–79%) | 1 ligoje |
| ADGRV1adhesion G protein-coupled receptor V1 | Kartais (5–29%) | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Kartais (5–29%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Kartais (5–29%) | 1 ligoje |
| AHRaryl hydrocarbon receptor | Kartais (5–29%) | 1 ligoje |
| ANOS1anosmin 1 | Kartais (5–29%) | 1 ligoje |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Kartais (5–29%) | 1 ligoje |
| ARL2BPARF like GTPase 2 binding protein | Kartais (5–29%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Kartais (5–29%) | 1 ligoje |
| CA4carbonic anhydrase 4 | Kartais (5–29%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Kartais (5–29%) | 1 ligoje |
| CCDC141coiled-coil domain containing 141 | Kartais (5–29%) | 1 ligoje |
| CERKLCERK like autophagy regulator | Kartais (5–29%) | 1 ligoje |
| CFAP20cilia and flagella associated protein 20 | Kartais (5–29%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Kartais (5–29%) | 1 ligoje |
| CHMCHM Rab escort protein | Kartais (5–29%) | 1 ligoje |
| CLRN1clarin 1 | Kartais (5–29%) | 1 ligoje |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| COQ8Bcoenzyme Q8B | Kartais (5–29%) | 1 ligoje |
| CRB1crumbs cell polarity complex component 1 | Kartais (5–29%) | 1 ligoje |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Kartais (5–29%) | 1 ligoje |
| DCCDCC netrin 1 receptor | Kartais (5–29%) | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Kartais (5–29%) | 1 ligoje |
| DHX38DEAH-box helicase 38 | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Kartais (5–29%) | 1 ligoje |
| DUSP6dual specificity phosphatase 6 | Kartais (5–29%) | 1 ligoje |
| EMX2empty spiracles homeobox 2 | Kartais (5–29%) | 1 ligoje |
| EYSEGF-like photoreceptor maintenance factor | Kartais (5–29%) | 1 ligoje |
| FAM161AFAM161 centrosomal protein A | Kartais (5–29%) | 1 ligoje |
| FEZF1FEZ family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| FGF17fibroblast growth factor 17 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 1 ligoje |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Kartais (5–29%) | 1 ligoje |
| FSCN2fascin actin-bundling protein 2, retinal | Kartais (5–29%) | 1 ligoje |
| GUCA1Bguanylate cyclase activator 1B | Kartais (5–29%) | 1 ligoje |
| HESX1HESX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Kartais (5–29%) | 2 ligose |
| HKDC1hexokinase domain containing 1 | Kartais (5–29%) | 1 ligoje |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| HTRA2HtrA serine peptidase 2 | Kartais (5–29%) | 1 ligoje |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| IFT140intraflagellar transport 140 | Kartais (5–29%) | 1 ligoje |
| IFT43intraflagellar transport 43 | Kartais (5–29%) | 1 ligoje |
| IFT88intraflagellar transport 88 | Kartais (5–29%) | 1 ligoje |
| IL17RDinterleukin 17 receptor D | Kartais (5–29%) | 1 ligoje |
| IMPDH1inosine monophosphate dehydrogenase 1 | Kartais (5–29%) | 1 ligoje |
| KIAA1549KIAA1549 | Kartais (5–29%) | 1 ligoje |
| KIZkizuna centrosomal protein | Kartais (5–29%) | 1 ligoje |
| KLHL7kelch like family member 7 | Kartais (5–29%) | 1 ligoje |
| LRRK2leucine rich repeat kinase 2 | Kartais (5–29%) | 1 ligoje |
| MAKmale germ cell associated kinase | Kartais (5–29%) | 1 ligoje |
| MERTKMER proto-oncogene, tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Kartais (5–29%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Kartais (5–29%) | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | Kartais (5–29%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Kartais (5–29%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Kartais (5–29%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Kartais (5–29%) | 1 ligoje |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Kartais (5–29%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Kartais (5–29%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Kartais (5–29%) | 1 ligoje |
| MYO7Amyosin VIIA | Kartais (5–29%) | 1 ligoje |
| NDNFneuron derived neurotrophic factor | Kartais (5–29%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Kartais (5–29%) | 1 ligoje |
| NEK2NIMA related kinase 2 | Kartais (5–29%) | 1 ligoje |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Kartais (5–29%) | 1 ligoje |
| NRLneural retina leucine zipper | Kartais (5–29%) | 1 ligoje |
| PARK7Parkinsonism associated deglycase | Kartais (5–29%) | 1 ligoje |
| PCAREphotoreceptor cilium actin regulator | Kartais (5–29%) | 1 ligoje |
| PDE6Aphosphodiesterase 6A | Kartais (5–29%) | 1 ligoje |
| PDE6Bphosphodiesterase 6B | Kartais (5–29%) | 1 ligoje |
| PDE6Gphosphodiesterase 6G | Kartais (5–29%) | 1 ligoje |
| PDZD7PDZ domain containing 7 | Kartais (5–29%) | 1 ligoje |
| PINK1PTEN induced kinase 1 | Kartais (5–29%) | 1 ligoje |
| PODXLpodocalyxin like | Kartais (5–29%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Kartais (5–29%) | 1 ligoje |
| PRCDphotoreceptor disc component | Kartais (5–29%) | 1 ligoje |
| PRKNparkin RBR E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| PROK2prokineticin 2 | Kartais (5–29%) | 1 ligoje |
| PROKR2prokineticin receptor 2 | Kartais (5–29%) | 1 ligoje |
| PRPF3pre-mRNA processing factor 3 | Kartais (5–29%) | 1 ligoje |
| PRPF31pre-mRNA processing factor 31 | Kartais (5–29%) | 1 ligoje |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Kartais (5–29%) | 1 ligoje |
| PRPF6pre-mRNA processing factor 6 | Kartais (5–29%) | 1 ligoje |
| PRPF8pre-mRNA processing factor 8 | Kartais (5–29%) | 1 ligoje |
| RBP3retinol binding protein 3 | Kartais (5–29%) | 1 ligoje |
| RDH12retinol dehydrogenase 12 | Kartais (5–29%) | 1 ligoje |
| REEP6receptor accessory protein 6 | Kartais (5–29%) | 1 ligoje |
| RGRretinal G protein coupled receptor | Kartais (5–29%) | 1 ligoje |
| RHOrhodopsin | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RNU6-1RNA, U6 small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RNU6-2RNA, U6 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RNU6-8RNA, U6 small nuclear 8 | Kartais (5–29%) | 1 ligoje |
| RNU6-9RNA, U6 small nuclear 9 | Kartais (5–29%) | 1 ligoje |
| ROM1retinal outer segment membrane protein 1 | Kartais (5–29%) | 1 ligoje |
| RP1RP1 axonemal microtubule associated | Kartais (5–29%) | 1 ligoje |
| RP1L1RP1 like 1 | Kartais (5–29%) | 1 ligoje |
| RP2RP2 activator of ARL3 GTPase | Kartais (5–29%) | 1 ligoje |
| RP9RP9 pre-mRNA splicing factor | Kartais (5–29%) | 1 ligoje |
| SAGS-antigen visual arrestin | Kartais (5–29%) | 1 ligoje |
| SAXO6stabilizer of axonemal microtubules 6 | Kartais (5–29%) | 1 ligoje |
| SEMA3Asemaphorin 3A | Kartais (5–29%) | 1 ligoje |
| SLC7A14solute carrier family 7 member 14 | Kartais (5–29%) | 1 ligoje |
| SNCAsynuclein alpha | Kartais (5–29%) | 1 ligoje |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Kartais (5–29%) | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Kartais (5–29%) | 1 ligoje |
| SPRY4sprouty RTK signaling antagonist 4 | Kartais (5–29%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Kartais (5–29%) | 1 ligoje |
| TACR3tachykinin receptor 3 | Kartais (5–29%) | 1 ligoje |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Kartais (5–29%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Kartais (5–29%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Kartais (5–29%) | 1 ligoje |
| TUBTUB bipartite transcription factor | Kartais (5–29%) | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Kartais (5–29%) | 1 ligoje |
| USH2Ausherin | Kartais (5–29%) | 2 ligose |
| VPS13Cvacuolar protein sorting 13 homolog C | Kartais (5–29%) | 1 ligoje |
| WDR11WD repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| WHRNwhirlin | Kartais (5–29%) | 1 ligoje |
| ZNF408zinc finger protein 408 | Kartais (5–29%) | 1 ligoje |
| ZNF513zinc finger protein 513 | Kartais (5–29%) | 1 ligoje |
| MFN2mitofusin 2 | Neužfiksuota | 1 ligoje |
| OPN1SWopsin 1, short wave sensitive | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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