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Kenmerk
Abnormal color vision
Klinische naam: Color vision defect
An anomaly in the ability to discriminate between or recognize colors.
Samenvatting
- Ook bekend als
- 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
- Lichaamssysteem
- Abnormality of the eye
Abnormal color visionHP:0000551
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Mijn Genome Test bestellen213 genen gekoppeld aan Abnormal color vision
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Abnormal color vision voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Altijd | In 4 aandoeningen |
| CRXcone-rod homeobox | Altijd | In 3 aandoeningen |
| PDXKpyridoxal kinase | Altijd | In 1 aandoening |
| RLBP1retinaldehyde binding protein 1 | Altijd | In 3 aandoeningen |
| RPGRIP1RPGR interacting protein 1 | Altijd | In 3 aandoeningen |
| RTN4IP1reticulon 4 interacting protein 1 | Altijd | In 1 aandoening |
| TULP1TUB like protein 1 | Altijd | In 2 aandoeningen |
| UBAP1Lubiquitin associated protein 1 like | Altijd | In 2 aandoeningen |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| ATF6activating transcription factor 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Heel vaak (80–99%) | In 3 aandoeningen |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Heel vaak (80–99%) | In 3 aandoeningen |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Heel vaak (80–99%) | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Heel vaak (80–99%) | In 1 aandoening |
| GNAT2G protein subunit alpha transducin 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| GUCA1Aguanylate cyclase activator 1A | Heel vaak (80–99%) | In 2 aandoeningen |
| PDE6Cphosphodiesterase 6C | Heel vaak (80–99%) | In 2 aandoeningen |
| PDE6Hphosphodiesterase 6H | Heel vaak (80–99%) | In 1 aandoening |
| PROM1prominin 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| PRPH2peripherin 2 | Heel vaak (80–99%) | In 5 aandoeningen |
| RPGRretinitis pigmentosa GTPase regulator | Heel vaak (80–99%) | In 5 aandoeningen |
| ADAM9ADAM metallopeptidase domain 9 | Vaak (30–79%) | In 1 aandoening |
| AIPL1AIP like 1 HSP90 co-chaperone | Vaak (30–79%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Vaak (30–79%) | In 2 aandoeningen |
| ALMS1ALMS1 centrosome and basal body associated protein | Vaak (30–79%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Vaak (30–79%) | In 2 aandoeningen |
| BBIP1BBSome interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Vaak (30–79%) | In 2 aandoeningen |
| BBS10Bardet-Biedl syndrome 10 | Vaak (30–79%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Vaak (30–79%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Vaak (30–79%) | In 2 aandoeningen |
| BBS4Bardet-Biedl syndrome 4 | Vaak (30–79%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Vaak (30–79%) | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Vaak (30–79%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Vaak (30–79%) | In 1 aandoening |
| BEST1bestrophin 1 | Vaak (30–79%) | In 4 aandoeningen |
| CABP4calcium binding protein 4 | Vaak (30–79%) | In 2 aandoeningen |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Vaak (30–79%) | In 1 aandoening |
| CDHR1cadherin related family member 1 | Vaak (30–79%) | In 3 aandoeningen |
Toon nog 173 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| CEP19centrosomal protein 19 | Vaak (30–79%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Vaak (30–79%) | In 1 aandoening |
| CFAP410cilia and flagella associated protein 410 | Vaak (30–79%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Vaak (30–79%) | In 3 aandoeningen |
| DNM1Ldynamin 1L | Vaak (30–79%) | In 1 aandoening |
| DRAM2DNA damage regulated autophagy modulator 2 | Vaak (30–79%) | In 1 aandoening |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Vaak (30–79%) | In 2 aandoeningen |
| GUCY2Dguanylate cyclase 2D, retinal | Vaak (30–79%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Vaak (30–79%) | In 2 aandoeningen |
| IFT27intraflagellar transport 27 | Vaak (30–79%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Vaak (30–79%) | In 1 aandoening |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Vaak (30–79%) | In 2 aandoeningen |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Vaak (30–79%) | In 2 aandoeningen |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Vaak (30–79%) | In 1 aandoening |
| LCA5lebercilin LCA5 | Vaak (30–79%) | In 1 aandoening |
| LRATlecithin retinol acyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| LZTFL1leucine zipper transcription factor like 1 | Vaak (30–79%) | In 1 aandoening |
| MFSD8major facilitator superfamily domain containing 8 | Vaak (30–79%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Vaak (30–79%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| MTTPmicrosomal triglyceride transfer protein | Vaak (30–79%) | In 1 aandoening |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| NPHP1nephrocystin 1 | Vaak (30–79%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Vaak (30–79%) | In 2 aandoeningen |
| OPA1OPA1 mitochondrial dynamin like GTPase | Vaak (30–79%) | In 1 aandoening |
| OPN1LWopsin 1, long wave sensitive | Vaak (30–79%) | In 2 aandoeningen |
| OPN1MWopsin 1, medium wave sensitive | Vaak (30–79%) | In 2 aandoeningen |
| OTX2orthodenticle homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| PITPNM3PITPNM family member 3 | Vaak (30–79%) | In 2 aandoeningen |
| POC1BPOC1 centriolar protein B | Vaak (30–79%) | In 1 aandoening |
| PPIBpeptidylprolyl isomerase B | Vaak (30–79%) | In 1 aandoening |
| RAB28RAB28, member RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RAX2retina and anterior neural fold homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| RIMS1regulating synaptic membrane exocytosis 1 | Vaak (30–79%) | In 1 aandoening |
| RPE65retinoid isomerohydrolase RPE65 | Vaak (30–79%) | In 2 aandoeningen |
| SCAPERS-phase cyclin A associated protein in the ER | Vaak (30–79%) | In 2 aandoeningen |
| SCLT1sodium channel and clathrin linker 1 | Vaak (30–79%) | In 1 aandoening |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Vaak (30–79%) | In 1 aandoening |
| SEMA4Asemaphorin 4A | Vaak (30–79%) | In 2 aandoeningen |
| SPATA7spermatogenesis associated 7 | Vaak (30–79%) | In 2 aandoeningen |
| TLCD3BTLC domain containing 3B | Vaak (30–79%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Vaak (30–79%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Vaak (30–79%) | In 2 aandoeningen |
| TTLL5tubulin tyrosine ligase like 5 | Vaak (30–79%) | In 1 aandoening |
| UNC119unc-119 lipid binding chaperone | Vaak (30–79%) | In 2 aandoeningen |
| WDPCPWD repeat containing planar cell polarity effector | Vaak (30–79%) | In 1 aandoening |
| ADGRV1adhesion G protein-coupled receptor V1 | Soms (5–29%) | In 1 aandoening |
| AGBL5AGBL carboxypeptidase 5 | Soms (5–29%) | In 1 aandoening |
| AHI1Abelson helper integration site 1 | Soms (5–29%) | In 1 aandoening |
| AHRaryl hydrocarbon receptor | Soms (5–29%) | In 1 aandoening |
| ANOS1anosmin 1 | Soms (5–29%) | In 1 aandoening |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Soms (5–29%) | In 1 aandoening |
| ARL2BPARF like GTPase 2 binding protein | Soms (5–29%) | In 1 aandoening |
| ARL3ARF like GTPase 3 | Soms (5–29%) | In 1 aandoening |
| CA4carbonic anhydrase 4 | Soms (5–29%) | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Soms (5–29%) | In 1 aandoening |
| CCDC141coiled-coil domain containing 141 | Soms (5–29%) | In 1 aandoening |
| CERKLCERK like autophagy regulator | Soms (5–29%) | In 1 aandoening |
| CFAP20cilia and flagella associated protein 20 | Soms (5–29%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Soms (5–29%) | In 1 aandoening |
| CHMCHM Rab escort protein | Soms (5–29%) | In 1 aandoening |
| CLRN1clarin 1 | Soms (5–29%) | In 1 aandoening |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Soms (5–29%) | In 1 aandoening |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Soms (5–29%) | In 1 aandoening |
| COQ8Bcoenzyme Q8B | Soms (5–29%) | In 1 aandoening |
| CRB1crumbs cell polarity complex component 1 | Soms (5–29%) | In 1 aandoening |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Soms (5–29%) | In 1 aandoening |
| DCCDCC netrin 1 receptor | Soms (5–29%) | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| DHX38DEAH-box helicase 38 | Soms (5–29%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Soms (5–29%) | In 1 aandoening |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Soms (5–29%) | In 1 aandoening |
| DUSP6dual specificity phosphatase 6 | Soms (5–29%) | In 1 aandoening |
| EMX2empty spiracles homeobox 2 | Soms (5–29%) | In 1 aandoening |
| EYSEGF-like photoreceptor maintenance factor | Soms (5–29%) | In 1 aandoening |
| FAM161AFAM161 centrosomal protein A | Soms (5–29%) | In 1 aandoening |
| FEZF1FEZ family zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| FGF17fibroblast growth factor 17 | Soms (5–29%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Soms (5–29%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Soms (5–29%) | In 1 aandoening |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Soms (5–29%) | In 1 aandoening |
| FSCN2fascin actin-bundling protein 2, retinal | Soms (5–29%) | In 1 aandoening |
| GUCA1Bguanylate cyclase activator 1B | Soms (5–29%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Soms (5–29%) | In 2 aandoeningen |
| HKDC1hexokinase domain containing 1 | Soms (5–29%) | In 1 aandoening |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| HTRA2HtrA serine peptidase 2 | Soms (5–29%) | In 1 aandoening |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Soms (5–29%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Soms (5–29%) | In 1 aandoening |
| IFT43intraflagellar transport 43 | Soms (5–29%) | In 1 aandoening |
| IFT88intraflagellar transport 88 | Soms (5–29%) | In 1 aandoening |
| IL17RDinterleukin 17 receptor D | Soms (5–29%) | In 1 aandoening |
| IMPDH1inosine monophosphate dehydrogenase 1 | Soms (5–29%) | In 1 aandoening |
| KIAA1549KIAA1549 | Soms (5–29%) | In 1 aandoening |
| KIZkizuna centrosomal protein | Soms (5–29%) | In 1 aandoening |
| KLHL7kelch like family member 7 | Soms (5–29%) | In 1 aandoening |
| LRRK2leucine rich repeat kinase 2 | Soms (5–29%) | In 1 aandoening |
| MAKmale germ cell associated kinase | Soms (5–29%) | In 1 aandoening |
| MERTKMER proto-oncogene, tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Soms (5–29%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Soms (5–29%) | In 1 aandoening |
| MT-CYBmitochondrially encoded cytochrome b | Soms (5–29%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Soms (5–29%) | In 1 aandoening |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Soms (5–29%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Soms (5–29%) | In 1 aandoening |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Soms (5–29%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Soms (5–29%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Soms (5–29%) | In 1 aandoening |
| MYO7Amyosin VIIA | Soms (5–29%) | In 1 aandoening |
| NDNFneuron derived neurotrophic factor | Soms (5–29%) | In 1 aandoening |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Soms (5–29%) | In 1 aandoening |
| NEK2NIMA related kinase 2 | Soms (5–29%) | In 1 aandoening |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Soms (5–29%) | In 1 aandoening |
| NRLneural retina leucine zipper | Soms (5–29%) | In 1 aandoening |
| PARK7Parkinsonism associated deglycase | Soms (5–29%) | In 1 aandoening |
| PCAREphotoreceptor cilium actin regulator | Soms (5–29%) | In 1 aandoening |
| PDE6Aphosphodiesterase 6A | Soms (5–29%) | In 1 aandoening |
| PDE6Bphosphodiesterase 6B | Soms (5–29%) | In 1 aandoening |
| PDE6Gphosphodiesterase 6G | Soms (5–29%) | In 1 aandoening |
| PDZD7PDZ domain containing 7 | Soms (5–29%) | In 1 aandoening |
| PINK1PTEN induced kinase 1 | Soms (5–29%) | In 1 aandoening |
| PODXLpodocalyxin like | Soms (5–29%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Soms (5–29%) | In 1 aandoening |
| PRCDphotoreceptor disc component | Soms (5–29%) | In 1 aandoening |
| PRKNparkin RBR E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| PROK2prokineticin 2 | Soms (5–29%) | In 1 aandoening |
| PROKR2prokineticin receptor 2 | Soms (5–29%) | In 1 aandoening |
| PRPF3pre-mRNA processing factor 3 | Soms (5–29%) | In 1 aandoening |
| PRPF31pre-mRNA processing factor 31 | Soms (5–29%) | In 1 aandoening |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Soms (5–29%) | In 1 aandoening |
| PRPF6pre-mRNA processing factor 6 | Soms (5–29%) | In 1 aandoening |
| PRPF8pre-mRNA processing factor 8 | Soms (5–29%) | In 1 aandoening |
| RBP3retinol binding protein 3 | Soms (5–29%) | In 1 aandoening |
| RDH12retinol dehydrogenase 12 | Soms (5–29%) | In 1 aandoening |
| REEP6receptor accessory protein 6 | Soms (5–29%) | In 1 aandoening |
| RGRretinal G protein coupled receptor | Soms (5–29%) | In 1 aandoening |
| RHOrhodopsin | Soms (5–29%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RNU6-1RNA, U6 small nuclear 1 | Soms (5–29%) | In 1 aandoening |
| RNU6-2RNA, U6 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RNU6-8RNA, U6 small nuclear 8 | Soms (5–29%) | In 1 aandoening |
| RNU6-9RNA, U6 small nuclear 9 | Soms (5–29%) | In 1 aandoening |
| ROM1retinal outer segment membrane protein 1 | Soms (5–29%) | In 1 aandoening |
| RP1RP1 axonemal microtubule associated | Soms (5–29%) | In 1 aandoening |
| RP1L1RP1 like 1 | Soms (5–29%) | In 1 aandoening |
| RP2RP2 activator of ARL3 GTPase | Soms (5–29%) | In 1 aandoening |
| RP9RP9 pre-mRNA splicing factor | Soms (5–29%) | In 1 aandoening |
| SAGS-antigen visual arrestin | Soms (5–29%) | In 1 aandoening |
| SAXO6stabilizer of axonemal microtubules 6 | Soms (5–29%) | In 1 aandoening |
| SEMA3Asemaphorin 3A | Soms (5–29%) | In 1 aandoening |
| SLC7A14solute carrier family 7 member 14 | Soms (5–29%) | In 1 aandoening |
| SNCAsynuclein alpha | Soms (5–29%) | In 1 aandoening |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Soms (5–29%) | In 1 aandoening |
| SOX10SRY-box transcription factor 10 | Soms (5–29%) | In 1 aandoening |
| SPRY4sprouty RTK signaling antagonist 4 | Soms (5–29%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Soms (5–29%) | In 1 aandoening |
| TACR3tachykinin receptor 3 | Soms (5–29%) | In 1 aandoening |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Soms (5–29%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Soms (5–29%) | In 1 aandoening |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Soms (5–29%) | In 1 aandoening |
| TUBTUB bipartite transcription factor | Soms (5–29%) | In 1 aandoening |
| UCHL1ubiquitin C-terminal hydrolase L1 | Soms (5–29%) | In 1 aandoening |
| USH2Ausherin | Soms (5–29%) | In 2 aandoeningen |
| VPS13Cvacuolar protein sorting 13 homolog C | Soms (5–29%) | In 1 aandoening |
| WDR11WD repeat domain 11 | Soms (5–29%) | In 1 aandoening |
| WHRNwhirlin | Soms (5–29%) | In 1 aandoening |
| ZNF408zinc finger protein 408 | Soms (5–29%) | In 1 aandoening |
| ZNF513zinc finger protein 513 | Soms (5–29%) | In 1 aandoening |
| MFN2mitofusin 2 | Niet vastgelegd | In 1 aandoening |
| OPN1SWopsin 1, short wave sensitive | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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