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Trait
Abnormality of retina blood vessels
Clinical name: Abnormal retinal vascular morphology
A structural abnormality of retinal vasculature.
Summary
- Also called
- Abnormality of the retinal vasculature
Abnormality of retina blood vesselsHP:0008046
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Read the genes linked to Abnormality of retina blood vessels, and the rest of your genome, with one test.
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Get my Genome Test113 genes linked to Abnormality of retina blood vessels
Changes in these genes cause rare conditions in which Abnormality of retina blood vessels is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Very often (80–99%) | In 1 condition |
| AGBL5AGBL carboxypeptidase 5 | Very often (80–99%) | In 1 condition |
| AHI1Abelson helper integration site 1 | Very often (80–99%) | In 1 condition |
| AHRaryl hydrocarbon receptor | Very often (80–99%) | In 1 condition |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Very often (80–99%) | In 1 condition |
| ARL2BPARF like GTPase 2 binding protein | Very often (80–99%) | In 1 condition |
| ARL3ARF like GTPase 3 | Very often (80–99%) | In 1 condition |
| ARL6ARF like GTPase 6 | Very often (80–99%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Very often (80–99%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Very often (80–99%) | In 1 condition |
| BEST1bestrophin 1 | Very often (80–99%) | In 1 condition |
| CA4carbonic anhydrase 4 | Very often (80–99%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Very often (80–99%) | In 1 condition |
| CDHR1cadherin related family member 1 | Very often (80–99%) | In 1 condition |
| CERKLCERK like autophagy regulator | Very often (80–99%) | In 1 condition |
| CFAP20cilia and flagella associated protein 20 | Very often (80–99%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Very often (80–99%) | In 1 condition |
| CLRN1clarin 1 | Very often (80–99%) | In 1 condition |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Very often (80–99%) | In 1 condition |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Very often (80–99%) | In 1 condition |
| COQ8Bcoenzyme Q8B | Very often (80–99%) | In 1 condition |
| CRB1crumbs cell polarity complex component 1 | Very often (80–99%) | In 1 condition |
| CRXcone-rod homeobox | Very often (80–99%) | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Very often (80–99%) | In 1 condition |
| DHX38DEAH-box helicase 38 | Very often (80–99%) | In 1 condition |
| EYSEGF-like photoreceptor maintenance factor | Very often (80–99%) | In 1 condition |
| FAM161AFAM161 centrosomal protein A | Very often (80–99%) | In 1 condition |
| FSCN2fascin actin-bundling protein 2, retinal | Very often (80–99%) | In 1 condition |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Very often (80–99%) | In 1 condition |
| FZD4frizzled class receptor 4 | Very often (80–99%) | In 1 condition |
| GUCA1Bguanylate cyclase activator 1B | Very often (80–99%) | In 1 condition |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Very often (80–99%) | In 1 condition |
| HKDC1hexokinase domain containing 1 | Very often (80–99%) | In 1 condition |
| HLA-Amajor histocompatibility complex, class I, A | Very often (80–99%) | In 1 condition |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Very often (80–99%) | In 1 condition |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Very often (80–99%) | In 1 condition |
| IFT140intraflagellar transport 140 | Very often (80–99%) | In 1 condition |
| IFT172intraflagellar transport 172 | Very often (80–99%) | In 1 condition |
| IFT43intraflagellar transport 43 | Very often (80–99%) | In 1 condition |
| IFT88intraflagellar transport 88 | Very often (80–99%) | In 1 condition |
Show 73 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| IMPDH1inosine monophosphate dehydrogenase 1 | Very often (80–99%) | In 1 condition |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Very often (80–99%) | In 1 condition |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Very often (80–99%) | In 1 condition |
| KIAA1549KIAA1549 | Very often (80–99%) | In 1 condition |
| KIZkizuna centrosomal protein | Very often (80–99%) | In 1 condition |
| KLHL7kelch like family member 7 | Very often (80–99%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Very often (80–99%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Very often (80–99%) | In 1 condition |
| MAKmale germ cell associated kinase | Very often (80–99%) | In 1 condition |
| MERTKMER proto-oncogene, tyrosine kinase | Very often (80–99%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Very often (80–99%) | In 3 conditions |
| NEK2NIMA related kinase 2 | Very often (80–99%) | In 1 condition |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Very often (80–99%) | In 1 condition |
| NRLneural retina leucine zipper | Very often (80–99%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Very often (80–99%) | In 1 condition |
| PCAREphotoreceptor cilium actin regulator | Very often (80–99%) | In 1 condition |
| PDE6Aphosphodiesterase 6A | Very often (80–99%) | In 1 condition |
| PDE6Bphosphodiesterase 6B | Very often (80–99%) | In 1 condition |
| PDE6Gphosphodiesterase 6G | Very often (80–99%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Very often (80–99%) | In 1 condition |
| PRCDphotoreceptor disc component | Very often (80–99%) | In 1 condition |
| PROM1prominin 1 | Very often (80–99%) | In 1 condition |
| PRPF3pre-mRNA processing factor 3 | Very often (80–99%) | In 1 condition |
| PRPF31pre-mRNA processing factor 31 | Very often (80–99%) | In 1 condition |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Very often (80–99%) | In 1 condition |
| PRPF6pre-mRNA processing factor 6 | Very often (80–99%) | In 1 condition |
| PRPF8pre-mRNA processing factor 8 | Very often (80–99%) | In 1 condition |
| PRPH2peripherin 2 | Very often (80–99%) | In 1 condition |
| RBP3retinol binding protein 3 | Very often (80–99%) | In 1 condition |
| RDH12retinol dehydrogenase 12 | Very often (80–99%) | In 1 condition |
| REEP6receptor accessory protein 6 | Very often (80–99%) | In 1 condition |
| RGRretinal G protein coupled receptor | Very often (80–99%) | In 1 condition |
| RHOrhodopsin | Very often (80–99%) | In 1 condition |
| RLBP1retinaldehyde binding protein 1 | Very often (80–99%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Very often (80–99%) | In 1 condition |
| RNU6-1RNA, U6 small nuclear 1 | Very often (80–99%) | In 1 condition |
| RNU6-2RNA, U6 small nuclear 2 | Very often (80–99%) | In 1 condition |
| RNU6-8RNA, U6 small nuclear 8 | Very often (80–99%) | In 1 condition |
| RNU6-9RNA, U6 small nuclear 9 | Very often (80–99%) | In 1 condition |
| ROM1retinal outer segment membrane protein 1 | Very often (80–99%) | In 1 condition |
| RP1RP1 axonemal microtubule associated | Very often (80–99%) | In 1 condition |
| RP1L1RP1 like 1 | Very often (80–99%) | In 1 condition |
| RP2RP2 activator of ARL3 GTPase | Very often (80–99%) | In 1 condition |
| RP9RP9 pre-mRNA splicing factor | Very often (80–99%) | In 1 condition |
| RPE65retinoid isomerohydrolase RPE65 | Very often (80–99%) | In 1 condition |
| RPGRretinitis pigmentosa GTPase regulator | Very often (80–99%) | In 1 condition |
| SAGS-antigen visual arrestin | Very often (80–99%) | In 1 condition |
| SAXO6stabilizer of axonemal microtubules 6 | Very often (80–99%) | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Very often (80–99%) | In 1 condition |
| SEMA4Asemaphorin 4A | Very often (80–99%) | In 1 condition |
| SLC7A14solute carrier family 7 member 14 | Very often (80–99%) | In 1 condition |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Very often (80–99%) | In 1 condition |
| SPATA7spermatogenesis associated 7 | Very often (80–99%) | In 1 condition |
| TMEM216transmembrane protein 216 | Very often (80–99%) | In 1 condition |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Very often (80–99%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Very often (80–99%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Very often (80–99%) | In 1 condition |
| TUBTUB bipartite transcription factor | Very often (80–99%) | In 1 condition |
| TULP1TUB like protein 1 | Very often (80–99%) | In 1 condition |
| USH2Ausherin | Very often (80–99%) | In 1 condition |
| ZNF408zinc finger protein 408 | Very often (80–99%) | In 1 condition |
| ZNF513zinc finger protein 513 | Very often (80–99%) | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Often (30–79%) | In 1 condition |
| DNMT3BDNA methyltransferase 3 beta | Often (30–79%) | In 1 condition |
| DUX4double homeobox 4 | Often (30–79%) | In 1 condition |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Often (30–79%) | In 1 condition |
| FRG1FSHD region gene 1 | Often (30–79%) | In 1 condition |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Often (30–79%) | In 1 condition |
| GNAQG protein subunit alpha q | Sometimes (5–29%) | In 1 condition |
| MYD88MYD88 innate immune signal transduction adaptor | Sometimes (5–29%) | In 1 condition |
| NOD2nucleotide binding oligomerization domain containing 2 | Sometimes (5–29%) | In 1 condition |
| CLCNKBchloride voltage-gated channel Kb | Not recorded | In 1 condition |
| ETHE1ETHE1 persulfide dioxygenase | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
- Narrowing of blood vessels in back of eye159 genes
- Retinal vascular tortuosity29 genes
- Hypertensive retinopathy23 genes
- Retinal telangiectasia21 genes
- Retinal neovascularization11 genes
- Avascular peripheral retina9 genes
- Lipemia retinalis6 genes
- Retinal venous occlusion6 genes
- Developmental retinal vascular malformation3 genes
- Abnormality of retinal arteries2 genes
- Retinal vasculitis2 genes
- Abnormal macular vasculature morphology
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Who We HelpOur ScienceProductsOutcomes
Log InAskGet Startedfrom $449
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From $449Free shipping · Results in 6–8 weeks