Požymis
Retinal atrophy
A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells.
Santrauka
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Retinal atrophy, and the rest of your genome, with one test.
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Įsigyti savo Genome Test145 genų susiję su Retinal atrophy
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Retinal atrophy. 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 |
|---|---|---|
| ARSGarylsulfatase G | Visada | 1 ligoje |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Visada | 1 ligoje |
| CTSDcathepsin D | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Visada | 2 ligose |
| NHEJ1non-homologous end joining factor 1 | Visada | 1 ligoje |
| REEP6receptor accessory protein 6 | Visada | 2 ligose |
| RHOrhodopsin | Visada | 3 ligose |
| SLC7A14solute carrier family 7 member 14 | Visada | 2 ligose |
| TRNT1tRNA nucleotidyl transferase 1 | Visada | 1 ligoje |
| ABCA4ATP binding cassette subfamily A member 4 | Dažnai (30–79%) | 2 ligose |
| ADAM9ADAM metallopeptidase domain 9 | Dažnai (30–79%) | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Dažnai (30–79%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Dažnai (30–79%) | 1 ligoje |
| AHRaryl hydrocarbon receptor | Dažnai (30–79%) | 1 ligoje |
| AIPL1AIP like 1 HSP90 co-chaperone | 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 |
| ARL6ARF like GTPase 6 | Dažnai (30–79%) | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Dažnai (30–79%) | 1 ligoje |
| ATF6activating transcription factor 6 | Dažnai (30–79%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Dažnai (30–79%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Dažnai (30–79%) | 1 ligoje |
| BEST1bestrophin 1 | Dažnai (30–79%) | 1 ligoje |
| CA4carbonic anhydrase 4 | Dažnai (30–79%) | 1 ligoje |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Dažnai (30–79%) | 1 ligoje |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Dažnai (30–79%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Dažnai (30–79%) | 1 ligoje |
| CDHR1cadherin related family member 1 | Dažnai (30–79%) | 2 ligose |
| CEP78centrosomal protein 78 | 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 |
| CFAP410cilia and flagella associated protein 410 | Dažnai (30–79%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Dažnai (30–79%) | 3 ligose |
| CLRN1clarin 1 | Dažnai (30–79%) | 1 ligoje |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Dažnai (30–79%) | 1 ligoje |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Dažnai (30–79%) | 1 ligoje |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Dažnai (30–79%) | 1 ligoje |
| COQ8Bcoenzyme Q8B | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 105 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CRB1crumbs cell polarity complex component 1 | Dažnai (30–79%) | 1 ligoje |
| CRXcone-rod homeobox | Dažnai (30–79%) | 2 ligose |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Dažnai (30–79%) | 1 ligoje |
| DHX38DEAH-box helicase 38 | Dažnai (30–79%) | 1 ligoje |
| DRAM2DNA damage regulated autophagy modulator 2 | Dažnai (30–79%) | 1 ligoje |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Dažnai (30–79%) | 2 ligose |
| 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%) | 2 ligose |
| GUCA1Aguanylate cyclase activator 1A | Dažnai (30–79%) | 1 ligoje |
| GUCA1Bguanylate cyclase activator 1B | Dažnai (30–79%) | 1 ligoje |
| GUCY2Dguanylate cyclase 2D, retinal | 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 |
| IFT140intraflagellar transport 140 | 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 |
| INPP5Einositol polyphosphate-5-phosphatase E | 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 |
| LAMA1laminin subunit alpha 1 | Dažnai (30–79%) | 2 ligose |
| LRATlecithin retinol acyltransferase | Dažnai (30–79%) | 1 ligoje |
| MAKmale germ cell associated kinase | Dažnai (30–79%) | 1 ligoje |
| MERTKMER proto-oncogene, tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| MFSD8major facilitator superfamily domain containing 8 | Dažnai (30–79%) | 1 ligoje |
| NEK2NIMA related kinase 2 | Dažnai (30–79%) | 1 ligoje |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | 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 |
| OPN1LWopsin 1, long wave sensitive | Dažnai (30–79%) | 1 ligoje |
| OPN1MWopsin 1, medium wave sensitive | Dažnai (30–79%) | 1 ligoje |
| PCAREphotoreceptor cilium actin regulator | Dažnai (30–79%) | 1 ligoje |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Dažnai (30–79%) | 2 ligose |
| PDE6Aphosphodiesterase 6A | Dažnai (30–79%) | 1 ligoje |
| PDE6Bphosphodiesterase 6B | Dažnai (30–79%) | 1 ligoje |
| PDE6Gphosphodiesterase 6G | Dažnai (30–79%) | 1 ligoje |
| PITPNM3PITPNM family member 3 | Dažnai (30–79%) | 1 ligoje |
| POC1BPOC1 centriolar protein B | Dažnai (30–79%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Dažnai (30–79%) | 2 ligose |
| 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 |
| PRPF6pre-mRNA processing factor 6 | Dažnai (30–79%) | 1 ligoje |
| PRPF8pre-mRNA processing factor 8 | Dažnai (30–79%) | 1 ligoje |
| PRPH2peripherin 2 | Dažnai (30–79%) | 3 ligose |
| RAB28RAB28, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RAX2retina and anterior neural fold homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| RBP3retinol binding protein 3 | Dažnai (30–79%) | 1 ligoje |
| RDH12retinol dehydrogenase 12 | Dažnai (30–79%) | 1 ligoje |
| RGRretinal G protein coupled receptor | Dažnai (30–79%) | 1 ligoje |
| RIMS1regulating synaptic membrane exocytosis 1 | Dažnai (30–79%) | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Dažnai (30–79%) | 2 ligose |
| RNU4-2RNA, U4 small nuclear 2 | 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%) | 1 ligoje |
| RPGRretinitis pigmentosa GTPase regulator | Dažnai (30–79%) | 2 ligose |
| RPGRIP1RPGR interacting protein 1 | 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 |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Dažnai (30–79%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Dažnai (30–79%) | 1 ligoje |
| TLCD3BTLC domain containing 3B | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Dažnai (30–79%) | 1 ligoje |
| TTLL5tubulin tyrosine ligase like 5 | Dažnai (30–79%) | 1 ligoje |
| TUBTUB bipartite transcription factor | Dažnai (30–79%) | 1 ligoje |
| TULP1TUB like protein 1 | Dažnai (30–79%) | 1 ligoje |
| UBAP1Lubiquitin associated protein 1 like | Dažnai (30–79%) | 1 ligoje |
| UNC119unc-119 lipid binding chaperone | Dažnai (30–79%) | 1 ligoje |
| USH2Ausherin | Dažnai (30–79%) | 1 ligoje |
| ZNF408zinc finger protein 408 | Dažnai (30–79%) | 1 ligoje |
| ZNF513zinc finger protein 513 | Dažnai (30–79%) | 1 ligoje |
| CA2carbonic anhydrase 2 | Kartais (5–29%) | 1 ligoje |
| RDH5retinol dehydrogenase 5 | Kartais (5–29%) | 1 ligoje |
| TIMP3TIMP metallopeptidase inhibitor 3 | Kartais (5–29%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Retai (1–4 %) | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Retai (1–4 %) | 1 ligoje |
| FKRPfukutin related protein | Neužfiksuota | 1 ligoje |
| FKTNfukutin | Neužfiksuota | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Neužfiksuota | 1 ligoje |
| MIR204microRNA 204 | Neužfiksuota | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Neužfiksuota | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Neužfiksuota | 1 ligoje |
| RS1retinoschisin 1 | 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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