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Trait
Rod-cone dystrophy
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Summary
- Also called
- Retinitis pigmentosa, Rod cone dystrophy
- Body system
- Abnormality of the eye
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Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/rod-cone-dystrophy.json"
page <- fromJSON(url)
page$trait$nameRod-cone dystrophyHP:0000510
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Get my Genome Test249 genes linked to Rod-cone dystrophy
Changes in these genes cause rare conditions in which Rod-cone dystrophy 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 |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Always | In 1 condition |
| AGBL5AGBL carboxypeptidase 5 | Always | In 1 condition |
| AIPL1AIP like 1 HSP90 co-chaperone | Always | In 1 condition |
| AMACRalpha-methylacyl-CoA racemase | Always | In 1 condition |
| ARL2ARF like GTPase 2 | Always | In 1 condition |
| ARL2BPARF like GTPase 2 binding protein | Always | In 1 condition |
| ARL3ARF like GTPase 3 | Always | In 2 conditions |
| ARL6ARF like GTPase 6 | Always | In 4 conditions |
| BBIP1BBSome interacting protein 1 | Always | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Always | In 1 condition |
| BBS10Bardet-Biedl syndrome 10 | Always | In 1 condition |
| BBS12Bardet-Biedl syndrome 12 | Always | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Always | In 2 conditions |
| BBS9Bardet-Biedl syndrome 9 | Always | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Always | In 1 condition |
| CCDC28Bcoiled-coil domain containing 28B | Always | In 1 condition |
| CEP290centrosomal protein 290 | Always | In 3 conditions |
| CFAP418cilia and flagella associated protein 418 | Always | In 3 conditions |
| CLRN1clarin 1 | Always | In 4 conditions |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Always | In 2 conditions |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Always | In 1 condition |
| CRB1crumbs cell polarity complex component 1 | Always | In 1 condition |
| CRXcone-rod homeobox | Always | In 1 condition |
| CTSDcathepsin D | Always | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Always | In 1 condition |
| DHX38DEAH-box helicase 38 | Always | In 1 condition |
| FLVCR1FLVCR choline and heme transporter 1 | Always | In 2 conditions |
| GGCXgamma-glutamyl carboxylase | Always | In 1 condition |
| GNAT1G protein subunit alpha transducin 1 | Always | In 1 condition |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Always | In 2 conditions |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 1 condition |
| IFT27intraflagellar transport 27 | Always | In 1 condition |
| IFT74intraflagellar transport 74 | Always | In 1 condition |
| KIZkizuna centrosomal protein | Always | In 1 condition |
| KLC4kinesin light chain 4 | Always | In 1 condition |
| KLHL7kelch like family member 7 | Always | In 2 conditions |
| LAMB2laminin subunit beta 2 | Always | In 1 condition |
| LRATlecithin retinol acyltransferase | Always | In 2 conditions |
| LZTFL1leucine zipper transcription factor like 1 | Always | In 1 condition |
Show 209 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| MERTKMER proto-oncogene, tyrosine kinase | Always | In 1 condition |
| MYO7Amyosin VIIA | Always | In 3 conditions |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Always | In 1 condition |
| NEK2NIMA related kinase 2 | Always | In 1 condition |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Always | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Always | In 3 conditions |
| PDE6Gphosphodiesterase 6G | Always | In 2 conditions |
| PEX12peroxisomal biogenesis factor 12 | Always | In 2 conditions |
| PEX2peroxisomal biogenesis factor 2 | Always | In 3 conditions |
| PEX7peroxisomal biogenesis factor 7 | Always | In 2 conditions |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Always | In 1 condition |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Always | In 1 condition |
| PRPF6pre-mRNA processing factor 6 | Always | In 1 condition |
| RBP3retinol binding protein 3 | Always | In 2 conditions |
| RDH11retinol dehydrogenase 11 | Always | In 2 conditions |
| REEP6receptor accessory protein 6 | Always | In 1 condition |
| RHOrhodopsin | Always | In 1 condition |
| ROM1retinal outer segment membrane protein 1 | Always | In 2 conditions |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Always | In 1 condition |
| SAGS-antigen visual arrestin | Always | In 3 conditions |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Always | In 1 condition |
| SLC7A14solute carrier family 7 member 14 | Always | In 1 condition |
| TMEM216transmembrane protein 216 | Always | In 1 condition |
| TMEM67transmembrane protein 67 | Always | In 3 conditions |
| TTC8tetratricopeptide repeat domain 8 | Always | In 2 conditions |
| TULP1TUB like protein 1 | Always | In 1 condition |
| UBAP1Lubiquitin associated protein 1 like | Always | In 1 condition |
| USH1CUSH1 protein network component harmonin | Always | In 3 conditions |
| VWA8von Willebrand factor A domain containing 8 | Always | In 1 condition |
| WDR19WD repeat domain 19 | Always | In 2 conditions |
| WHRNwhirlin | Always | In 2 conditions |
| ZNF408zinc finger protein 408 | Always | In 1 condition |
| ADGRV1adhesion G protein-coupled receptor V1 | Very often (80–99%) | In 2 conditions |
| ARSGarylsulfatase G | Very often (80–99%) | In 1 condition |
| BBS7Bardet-Biedl syndrome 7 | Very often (80–99%) | In 1 condition |
| CDH23cadherin related 23 | Very often (80–99%) | In 2 conditions |
| CEP78centrosomal protein 78 | Very often (80–99%) | In 1 condition |
| CFAP410cilia and flagella associated protein 410 | Very often (80–99%) | In 1 condition |
| ESPNespin | Very often (80–99%) | In 1 condition |
| HARS1histidyl-tRNA synthetase 1 | Very often (80–99%) | In 1 condition |
| IFT54intraflagellar transport 54 | Very often (80–99%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Very often (80–99%) | In 1 condition |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Very often (80–99%) | In 1 condition |
| PCDH15protocadherin related 15 | Very often (80–99%) | In 3 conditions |
| PDZD7PDZ domain containing 7 | Very often (80–99%) | In 3 conditions |
| PEX1peroxisomal biogenesis factor 1 | Very often (80–99%) | In 2 conditions |
| PEX10peroxisomal biogenesis factor 10 | Very often (80–99%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Very often (80–99%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Very often (80–99%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Very often (80–99%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Very often (80–99%) | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Very often (80–99%) | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Very often (80–99%) | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Very often (80–99%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Very often (80–99%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Very often (80–99%) | In 2 conditions |
| SH2B1SH2B adaptor protein 1 | Very often (80–99%) | In 1 condition |
| USH1GUSH1 protein network component sans | Very often (80–99%) | In 2 conditions |
| USH2Ausherin | Very often (80–99%) | In 3 conditions |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Often (30–79%) | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Often (30–79%) | In 1 condition |
| CWC27CWC27 spliceosome associated cyclophilin | Often (30–79%) | In 2 conditions |
| EXOSC2exosome component 2 | Often (30–79%) | In 1 condition |
| HK1hexokinase 1 | Often (30–79%) | In 1 condition |
| IFT172intraflagellar transport 172 | Often (30–79%) | In 2 conditions |
| KIF5Akinesin family member 5A | Often (30–79%) | In 1 condition |
| MDH2malate dehydrogenase 2 | Often (30–79%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 4 conditions |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Often (30–79%) | In 1 condition |
| NPHP4nephrocystin 4 | Often (30–79%) | In 1 condition |
| NRLneural retina leucine zipper | Often (30–79%) | In 1 condition |
| PANK2pantothenate kinase 2 | Often (30–79%) | In 1 condition |
| RPL10ribosomal protein L10 | Often (30–79%) | In 2 conditions |
| TRNT1tRNA nucleotidyl transferase 1 | Often (30–79%) | In 1 condition |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| ASPAaspartoacylase | Sometimes (5–29%) | In 1 condition |
| ATP5F1AATP synthase F1 subunit alpha | Sometimes (5–29%) | In 1 condition |
| ATP5F1DATP synthase F1 subunit delta | Sometimes (5–29%) | In 1 condition |
| ATP5F1EATP synthase F1 subunit epsilon | Sometimes (5–29%) | In 1 condition |
| ATP5MKATP synthase membrane subunit k | Sometimes (5–29%) | In 1 condition |
| ATP5POATP synthase peripheral stalk subunit OSCP | Sometimes (5–29%) | In 1 condition |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Sometimes (5–29%) | In 1 condition |
| FDXRferredoxin reductase | Sometimes (5–29%) | In 1 condition |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Sometimes (5–29%) | In 1 condition |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sometimes (5–29%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sometimes (5–29%) | In 1 condition |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sometimes (5–29%) | In 1 condition |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Sometimes (5–29%) | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sometimes (5–29%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sometimes (5–29%) | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sometimes (5–29%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sometimes (5–29%) | In 1 condition |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Sometimes (5–29%) | In 1 condition |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sometimes (5–29%) | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Sometimes (5–29%) | In 1 condition |
| MVKmevalonate kinase | Sometimes (5–29%) | In 1 condition |
| MYO6myosin VI | Sometimes (5–29%) | In 1 condition |
| PMM2phosphomannomutase 2 | Sometimes (5–29%) | In 2 conditions |
| POGZpogo transposable element derived with ZNF domain | Sometimes (5–29%) | In 2 conditions |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Sometimes (5–29%) | In 1 condition |
| RLBP1retinaldehyde binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SRD5A3steroid 5 alpha-reductase 3 | Sometimes (5–29%) | In 1 condition |
| TELO2telomere maintenance 2 | Sometimes (5–29%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Sometimes (5–29%) | In 1 condition |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 2 conditions |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Rarely (1–4%) | In 1 condition |
| BRWD1bromodomain and WD repeat domain containing 1 | Rarely (1–4%) | In 1 condition |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Rarely (1–4%) | In 1 condition |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Rarely (1–4%) | In 1 condition |
| CCNOcyclin O | Rarely (1–4%) | In 1 condition |
| CFAP221cilia and flagella associated protein 221 | Rarely (1–4%) | In 1 condition |
| CFAP298cilia and flagella associated protein 298 | Rarely (1–4%) | In 1 condition |
| CFAP300cilia and flagella associated protein 300 | Rarely (1–4%) | In 1 condition |
| CFAP74cilia and flagella associated protein 74 | Rarely (1–4%) | In 1 condition |
| CLXNcalaxin | Rarely (1–4%) | In 1 condition |
| DAW1dynein assembly factor with WD repeats 1 | Rarely (1–4%) | In 1 condition |
| DNAAF1dynein axonemal assembly factor 1 | Rarely (1–4%) | In 1 condition |
| DNAAF11dynein axonemal assembly factor 11 | Rarely (1–4%) | In 1 condition |
| DNAAF19dynein axonemal assembly factor 19 | Rarely (1–4%) | In 1 condition |
| DNAAF2dynein axonemal assembly factor 2 | Rarely (1–4%) | In 1 condition |
| DNAAF3dynein axonemal assembly factor 3 | Rarely (1–4%) | In 1 condition |
| DNAAF4dynein axonemal assembly factor 4 | Rarely (1–4%) | In 1 condition |
| DNAAF5dynein axonemal assembly factor 5 | Rarely (1–4%) | In 1 condition |
| DNAAF6dynein axonemal assembly factor 6 | Rarely (1–4%) | In 1 condition |
| DNAH1dynein axonemal heavy chain 1 | Rarely (1–4%) | In 1 condition |
| DNAH11dynein axonemal heavy chain 11 | Rarely (1–4%) | In 1 condition |
| DNAH5dynein axonemal heavy chain 5 | Rarely (1–4%) | In 1 condition |
| DNAH7dynein axonemal heavy chain 7 | Rarely (1–4%) | In 1 condition |
| DNAH9dynein axonemal heavy chain 9 | Rarely (1–4%) | In 1 condition |
| DNAI1dynein axonemal intermediate chain 1 | Rarely (1–4%) | In 1 condition |
| DNAI2dynein axonemal intermediate chain 2 | Rarely (1–4%) | In 1 condition |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Rarely (1–4%) | In 1 condition |
| DNAL1dynein axonemal light chain 1 | Rarely (1–4%) | In 1 condition |
| DRC1dynein regulatory complex subunit 1 | Rarely (1–4%) | In 1 condition |
| DRC2dynein regulatory complex subunit 2 | Rarely (1–4%) | In 1 condition |
| DRC4dynein regulatory complex subunit 4 | Rarely (1–4%) | In 1 condition |
| FOXJ1forkhead box J1 | Rarely (1–4%) | In 1 condition |
| GAS2L2growth arrest specific 2 like 2 | Rarely (1–4%) | In 1 condition |
| GATA3GATA binding protein 3 | Rarely (1–4%) | In 1 condition |
| GRK1G protein-coupled receptor kinase 1 | Rarely (1–4%) | In 1 condition |
| HSPD1heat shock protein family D (Hsp60) member 1 | Rarely (1–4%) | In 1 condition |
| HYDINHYDIN axonemal central pair apparatus protein | Rarely (1–4%) | In 1 condition |
| LRRC56leucine rich repeat containing 56 | Rarely (1–4%) | In 1 condition |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Rarely (1–4%) | In 1 condition |
| NEK10NIMA related kinase 10 | Rarely (1–4%) | In 1 condition |
| NME5NME/NM23 family member 5 | Rarely (1–4%) | In 1 condition |
| NME8NME/NM23 family member 8 | Rarely (1–4%) | In 1 condition |
| ODAD1outer dynein arm docking complex subunit 1 | Rarely (1–4%) | In 1 condition |
| ODAD2outer dynein arm docking complex subunit 2 | Rarely (1–4%) | In 1 condition |
| ODAD3outer dynein arm docking complex subunit 3 | Rarely (1–4%) | In 1 condition |
| ODAD4outer dynein arm docking complex subunit 4 | Rarely (1–4%) | In 1 condition |
| RPGRretinitis pigmentosa GTPase regulator | Rarely (1–4%) | In 3 conditions |
| RSPH1radial spoke head component 1 | Rarely (1–4%) | In 1 condition |
| RSPH3radial spoke head 3 | Rarely (1–4%) | In 1 condition |
| RSPH4Aradial spoke head component 4A | Rarely (1–4%) | In 1 condition |
| RSPH9radial spoke head component 9 | Rarely (1–4%) | In 1 condition |
| SPAG1sperm associated antigen 1 | Rarely (1–4%) | In 1 condition |
| SPEF2sperm flagellar and cilia associated 2 | Rarely (1–4%) | In 1 condition |
| STK36serine/threonine kinase 36 | Rarely (1–4%) | In 1 condition |
| TTC12tetratricopeptide repeat domain 12 | Rarely (1–4%) | In 1 condition |
| ZMYND10zinc finger MYND-type containing 10 | Rarely (1–4%) | In 1 condition |
| ABCA4ATP binding cassette subfamily A member 4 | Not recorded | In 1 condition |
| ACOX1acyl-CoA oxidase 1 | Not recorded | In 1 condition |
| AHRaryl hydrocarbon receptor | Not recorded | In 1 condition |
| APTXaprataxin | Not recorded | In 1 condition |
| ATXN2ataxin 2 | Not recorded | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Not recorded | In 1 condition |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Not recorded | In 1 condition |
| BEST1bestrophin 1 | Not recorded | In 1 condition |
| CDHR1cadherin related family member 1 | Not recorded | In 1 condition |
| CERKLCERK like autophagy regulator | Not recorded | In 1 condition |
| CLDN19claudin 19 | Not recorded | In 1 condition |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Not recorded | In 1 condition |
| COQ2coenzyme Q2, polyprenyltransferase | Not recorded | In 1 condition |
| EYSEGF-like photoreceptor maintenance factor | Not recorded | In 1 condition |
| FAM161AFAM161 centrosomal protein A | Not recorded | In 1 condition |
| FSCN2fascin actin-bundling protein 2, retinal | Not recorded | In 1 condition |
| GUCA1Bguanylate cyclase activator 1B | Not recorded | In 1 condition |
| HMX1H6 family homeobox 1 | Not recorded | In 1 condition |
| IMPDH1inosine monophosphate dehydrogenase 1 | Not recorded | In 1 condition |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Not recorded | In 1 condition |
| IQCB1IQ motif containing B1 | Not recorded | In 1 condition |
| KIF3Bkinesin family member 3B | Not recorded | In 1 condition |
| MAKmale germ cell associated kinase | Not recorded | In 1 condition |
| MAPKAPK3MAPK activated protein kinase 3 | Not recorded | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Not recorded | In 1 condition |
| PCAREphotoreceptor cilium actin regulator | Not recorded | In 1 condition |
| PDE6Aphosphodiesterase 6A | Not recorded | In 1 condition |
| PDE6Bphosphodiesterase 6B | Not recorded | In 1 condition |
| PHYHphytanoyl-CoA 2-hydroxylase | Not recorded | In 1 condition |
| PRCDphotoreceptor disc component | Not recorded | In 1 condition |
| PROM1prominin 1 | Not recorded | In 1 condition |
| PRPF3pre-mRNA processing factor 3 | Not recorded | In 1 condition |
| PRPF31pre-mRNA processing factor 31 | Not recorded | In 1 condition |
| PRPF8pre-mRNA processing factor 8 | Not recorded | In 1 condition |
| PRPH2peripherin 2 | Not recorded | In 1 condition |
| RGRretinal G protein coupled receptor | Not recorded | In 1 condition |
| RP1RP1 axonemal microtubule associated | Not recorded | In 1 condition |
| RP2RP2 activator of ARL3 GTPase | Not recorded | In 1 condition |
| RP9RP9 pre-mRNA splicing factor | Not recorded | In 1 condition |
| RPE65retinoid isomerohydrolase RPE65 | Not recorded | In 1 condition |
| SEMA4Asemaphorin 4A | Not recorded | In 2 conditions |
| SLC35A2solute carrier family 35 member A2 | Not recorded | In 1 condition |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Not recorded | In 1 condition |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Not recorded | In 1 condition |
| ZNF513zinc finger protein 513 | 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.
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 2026.10.17-8666dff2.
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