Požymis
Loss of peripheral vision
Klinikinis pavadinimas: Peripheral visual field loss
Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.
Santrauka
- Taip pat vadinama
- Tunnel vision, Kalnienk vision
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Loss of peripheral vision, and the rest of your genome, with one test.
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Įsigyti savo Genome Test127 genų susiję su Loss of peripheral vision
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Loss of peripheral 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 |
|---|---|---|
| ARL6ARF like GTPase 6 | Visada | 2 ligose |
| BBS1Bardet-Biedl syndrome 1 | Visada | 2 ligose |
| BBS2Bardet-Biedl syndrome 2 | Visada | 2 ligose |
| CCDC28Bcoiled-coil domain containing 28B | Visada | 1 ligoje |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Visada | 2 ligose |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Visada | 2 ligose |
| IFT140intraflagellar transport 140 | Visada | 2 ligose |
| PDE6Aphosphodiesterase 6A | Visada | 2 ligose |
| PRPF6pre-mRNA processing factor 6 | Visada | 2 ligose |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Visada | 1 ligoje |
| SLC6A6solute carrier family 6 member 6 | Visada | 1 ligoje |
| TMEM216transmembrane protein 216 | Visada | 2 ligose |
| UBAP1Lubiquitin associated protein 1 like | Visada | 1 ligoje |
| ZNF513zinc finger protein 513 | Visada | 2 ligose |
| ABCA4ATP binding cassette subfamily A member 4 | Dažnai (30–79%) | 2 ligose |
| ADGRV1adhesion G protein-coupled receptor V1 | Dažnai (30–79%) | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Dažnai (30–79%) | 2 ligose |
| AHI1Abelson helper integration site 1 | Dažnai (30–79%) | 1 ligoje |
| AHRaryl hydrocarbon receptor | Dažnai (30–79%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Dažnai (30–79%) | 1 ligoje |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Dažnai (30–79%) | 1 ligoje |
| ARL2BPARF like GTPase 2 binding protein | Dažnai (30–79%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Dažnai (30–79%) | 1 ligoje |
| BEST1bestrophin 1 | Dažnai (30–79%) | 1 ligoje |
| CA4carbonic anhydrase 4 | Dažnai (30–79%) | 1 ligoje |
| CABP4calcium binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Dažnai (30–79%) | 1 ligoje |
| CDH23cadherin related 23 | Dažnai (30–79%) | 1 ligoje |
| CDHR1cadherin related family member 1 | Dažnai (30–79%) | 1 ligoje |
| CERKLCERK like autophagy regulator | Dažnai (30–79%) | 1 ligoje |
| CFAP20cilia and flagella associated protein 20 | Dažnai (30–79%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Dažnai (30–79%) | 1 ligoje |
| CHMCHM Rab escort protein | Dažnai (30–79%) | 1 ligoje |
| CLRN1clarin 1 | Dažnai (30–79%) | 1 ligoje |
| COQ8Bcoenzyme Q8B | Dažnai (30–79%) | 1 ligoje |
| CRB1crumbs cell polarity complex component 1 | Dažnai (30–79%) | 1 ligoje |
| CRXcone-rod homeobox | Dažnai (30–79%) | 2 ligose |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Dažnai (30–79%) | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Dažnai (30–79%) | 1 ligoje |
| DHX38DEAH-box helicase 38 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 87 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Dažnai (30–79%) | 1 ligoje |
| ESPNespin | Dažnai (30–79%) | 1 ligoje |
| EYSEGF-like photoreceptor maintenance factor | Dažnai (30–79%) | 1 ligoje |
| FAM161AFAM161 centrosomal protein A | Dažnai (30–79%) | 1 ligoje |
| FSCN2fascin actin-bundling protein 2, retinal | Dažnai (30–79%) | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Dažnai (30–79%) | 1 ligoje |
| GUCA1Bguanylate cyclase activator 1B | Dažnai (30–79%) | 1 ligoje |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| HKDC1hexokinase domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Dažnai (30–79%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Dažnai (30–79%) | 1 ligoje |
| IFT43intraflagellar transport 43 | Dažnai (30–79%) | 1 ligoje |
| IFT88intraflagellar transport 88 | Dažnai (30–79%) | 1 ligoje |
| IMPDH1inosine monophosphate dehydrogenase 1 | Dažnai (30–79%) | 1 ligoje |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Dažnai (30–79%) | 1 ligoje |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Dažnai (30–79%) | 1 ligoje |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Dažnai (30–79%) | 1 ligoje |
| KIAA1549KIAA1549 | Dažnai (30–79%) | 1 ligoje |
| KIZkizuna centrosomal protein | Dažnai (30–79%) | 1 ligoje |
| KLHL7kelch like family member 7 | Dažnai (30–79%) | 1 ligoje |
| LCA5lebercilin LCA5 | Dažnai (30–79%) | 1 ligoje |
| LRATlecithin retinol acyltransferase | Dažnai (30–79%) | 2 ligose |
| MAKmale germ cell associated kinase | Dažnai (30–79%) | 1 ligoje |
| MERTKMER proto-oncogene, tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| MYO7Amyosin VIIA | Dažnai (30–79%) | 2 ligose |
| MYOCmyocilin | Dažnai (30–79%) | 1 ligoje |
| NEK2NIMA related kinase 2 | Dažnai (30–79%) | 1 ligoje |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Dažnai (30–79%) | 1 ligoje |
| NRLneural retina leucine zipper | Dažnai (30–79%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Dažnai (30–79%) | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| PCAREphotoreceptor cilium actin regulator | Dažnai (30–79%) | 1 ligoje |
| PCDH15protocadherin related 15 | Dažnai (30–79%) | 1 ligoje |
| PDE6Bphosphodiesterase 6B | Dažnai (30–79%) | 1 ligoje |
| PDE6Gphosphodiesterase 6G | Dažnai (30–79%) | 1 ligoje |
| PDZD7PDZ domain containing 7 | Dažnai (30–79%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Dažnai (30–79%) | 1 ligoje |
| POU3F4POU class 3 homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| PRCDphotoreceptor disc component | Dažnai (30–79%) | 1 ligoje |
| PROM1prominin 1 | Dažnai (30–79%) | 2 ligose |
| PRPF3pre-mRNA processing factor 3 | Dažnai (30–79%) | 1 ligoje |
| PRPF31pre-mRNA processing factor 31 | Dažnai (30–79%) | 1 ligoje |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Dažnai (30–79%) | 1 ligoje |
| PRPF8pre-mRNA processing factor 8 | Dažnai (30–79%) | 1 ligoje |
| PRPH2peripherin 2 | Dažnai (30–79%) | 3 ligose |
| RBP3retinol binding protein 3 | Dažnai (30–79%) | 1 ligoje |
| RDH12retinol dehydrogenase 12 | Dažnai (30–79%) | 1 ligoje |
| RDH5retinol dehydrogenase 5 | Dažnai (30–79%) | 1 ligoje |
| REEP6receptor accessory protein 6 | Dažnai (30–79%) | 1 ligoje |
| RGRretinal G protein coupled receptor | Dažnai (30–79%) | 1 ligoje |
| RHOrhodopsin | Dažnai (30–79%) | 2 ligose |
| RLBP1retinaldehyde binding protein 1 | Dažnai (30–79%) | 2 ligose |
| RNU4-2RNA, U4 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Dažnai (30–79%) | 1 ligoje |
| RNU6-1RNA, U6 small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| RNU6-2RNA, U6 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RNU6-8RNA, U6 small nuclear 8 | Dažnai (30–79%) | 1 ligoje |
| RNU6-9RNA, U6 small nuclear 9 | Dažnai (30–79%) | 1 ligoje |
| ROM1retinal outer segment membrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| RP1RP1 axonemal microtubule associated | Dažnai (30–79%) | 1 ligoje |
| RP1L1RP1 like 1 | Dažnai (30–79%) | 1 ligoje |
| RP2RP2 activator of ARL3 GTPase | Dažnai (30–79%) | 1 ligoje |
| RP9RP9 pre-mRNA splicing factor | Dažnai (30–79%) | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Dažnai (30–79%) | 3 ligose |
| RPGRretinitis pigmentosa GTPase regulator | Dažnai (30–79%) | 1 ligoje |
| SAGS-antigen visual arrestin | Dažnai (30–79%) | 1 ligoje |
| SAXO6stabilizer of axonemal microtubules 6 | Dažnai (30–79%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Dažnai (30–79%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Dažnai (30–79%) | 2 ligose |
| SLC7A14solute carrier family 7 member 14 | Dažnai (30–79%) | 1 ligoje |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Dažnai (30–79%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Dažnai (30–79%) | 2 ligose |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Dažnai (30–79%) | 1 ligoje |
| TUBTUB bipartite transcription factor | Dažnai (30–79%) | 1 ligoje |
| TULP1TUB like protein 1 | Dažnai (30–79%) | 1 ligoje |
| USH1CUSH1 protein network component harmonin | Dažnai (30–79%) | 1 ligoje |
| USH1GUSH1 protein network component sans | Dažnai (30–79%) | 1 ligoje |
| USH2Ausherin | Dažnai (30–79%) | 2 ligose |
| WHRNwhirlin | Dažnai (30–79%) | 1 ligoje |
| ZNF408zinc finger protein 408 | Dažnai (30–79%) | 1 ligoje |
| DLATdihydrolipoamide S-acetyltransferase | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 1 ligoje |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Retai (1–4 %) | 1 ligoje |
| CWC27CWC27 spliceosome associated cyclophilin | Neužfiksuota | 1 ligoje |
| GUCY2Dguanylate cyclase 2D, retinal | 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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