Požymis
Breakdown of light-sensitive cells in back of eye
Klinikinis pavadinimas: Retinal dystrophy
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Santrauka
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test127 genų susiję su Breakdown of light-sensitive cells in back of eye
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Breakdown of light-sensitive cells in back of eye. 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 |
|---|---|---|
| ACO2aconitase 2 | Visada | 1 ligoje |
| ARL6ARF like GTPase 6 | Visada | 2 ligose |
| ARV1ARV1 fatty acid homeostasis modulator | Visada | 1 ligoje |
| BBIP1BBSome interacting protein 1 | Visada | 2 ligose |
| BBS1Bardet-Biedl syndrome 1 | Visada | 2 ligose |
| BBS10Bardet-Biedl syndrome 10 | Visada | 2 ligose |
| BBS12Bardet-Biedl syndrome 12 | Visada | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Visada | 1 ligoje |
| BBS4Bardet-Biedl syndrome 4 | Visada | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Visada | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Visada | 1 ligoje |
| BBS9Bardet-Biedl syndrome 9 | Visada | 1 ligoje |
| CEP19centrosomal protein 19 | Visada | 1 ligoje |
| CEP290centrosomal protein 290 | Visada | 3 ligose |
| CFAP410cilia and flagella associated protein 410 | Visada | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Visada | 1 ligoje |
| DAG1dystroglycan 1 | Visada | 3 ligose |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 2 ligose |
| IFT172intraflagellar transport 172 | Visada | 1 ligoje |
| IFT27intraflagellar transport 27 | Visada | 1 ligoje |
| IFT74intraflagellar transport 74 | Visada | 1 ligoje |
| INTS11integrator complex subunit 11 | Visada | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Visada | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Visada | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Visada | 2 ligose |
| MPV17mitochondrial inner membrane protein MPV17 | Visada | 1 ligoje |
| NPHP1nephrocystin 1 | Visada | 3 ligose |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| RCBTB1RCC1 and BTB domain containing protein 1 | Visada | 1 ligoje |
| RDH11retinol dehydrogenase 11 | Visada | 1 ligoje |
| RNU6ATACRNA, U6atac small nuclear | Visada | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Visada | 1 ligoje |
| SCLT1sodium channel and clathrin linker 1 | Visada | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Visada | 2 ligose |
| TMEM218transmembrane protein 218 | Visada | 1 ligoje |
| TMEM63Btransmembrane protein 63B | Visada | 1 ligoje |
| TRIM32tripartite motif containing 32 | Visada | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Visada | 1 ligoje |
Rodyti dar 87 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TUBTUB bipartite transcription factor | Visada | 1 ligoje |
| UBAP1Lubiquitin associated protein 1 like | Visada | 1 ligoje |
| WDPCPWD repeat containing planar cell polarity effector | Visada | 1 ligoje |
| AHI1Abelson helper integration site 1 | Labai dažnai (80–99%) | 2 ligose |
| ALMS1ALMS1 centrosome and basal body associated protein | Labai dažnai (80–99%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Labai dažnai (80–99%) | 2 ligose |
| CEP120centrosomal protein 120 | Labai dažnai (80–99%) | 1 ligoje |
| CEP164centrosomal protein 164 | Labai dažnai (80–99%) | 1 ligoje |
| CEP41centrosomal protein 41 | Labai dažnai (80–99%) | 2 ligose |
| COL4A1collagen type IV alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Labai dažnai (80–99%) | 1 ligoje |
| FKRPfukutin related protein | Labai dažnai (80–99%) | 1 ligoje |
| FKTNfukutin | Labai dažnai (80–99%) | 1 ligoje |
| IFT54intraflagellar transport 54 | Labai dažnai (80–99%) | 2 ligose |
| INPP5Einositol polyphosphate-5-phosphatase E | Labai dažnai (80–99%) | 4 ligose |
| INVSinversin | Labai dažnai (80–99%) | 1 ligoje |
| IQCB1IQ motif containing B1 | Labai dažnai (80–99%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| NPHP3nephrocystin 3 | Labai dažnai (80–99%) | 1 ligoje |
| NPHP4nephrocystin 4 | Labai dažnai (80–99%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Labai dažnai (80–99%) | 1 ligoje |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Labai dažnai (80–99%) | 1 ligoje |
| POMKprotein O-mannose kinase | Labai dažnai (80–99%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| SH2B1SH2B adaptor protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM138transmembrane protein 138 | Labai dažnai (80–99%) | 2 ligose |
| TMEM216transmembrane protein 216 | Labai dažnai (80–99%) | 2 ligose |
| TMEM231transmembrane protein 231 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM237transmembrane protein 237 | Labai dažnai (80–99%) | 1 ligoje |
| WDR19WD repeat domain 19 | Labai dažnai (80–99%) | 2 ligose |
| ZNF423zinc finger protein 423 | Labai dažnai (80–99%) | 1 ligoje |
| BUD13BUD13 spliceosome associated protein | Dažnai (30–79%) | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Dažnai (30–79%) | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Dažnai (30–79%) | 1 ligoje |
| GRNgranulin precursor | Dažnai (30–79%) | 1 ligoje |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 2 ligose |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| RNF113Aring finger protein 113A | Dažnai (30–79%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Dažnai (30–79%) | 2 ligose |
| VPS4Avacuolar protein sorting 4 homolog A | Dažnai (30–79%) | 1 ligoje |
| ANK1ankyrin 1 | Kartais (5–29%) | 1 ligoje |
| ARMC9armadillo repeat containing 9 | Kartais (5–29%) | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Kartais (5–29%) | 2 ligose |
| CCNQcyclin Q | Kartais (5–29%) | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CRYABcrystallin alpha B | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Kartais (5–29%) | 1 ligoje |
| EXOSC3exosome component 3 | Kartais (5–29%) | 1 ligoje |
| HCCSholocytochrome c synthase | Kartais (5–29%) | 1 ligoje |
| HID1HID1 domain containing | Kartais (5–29%) | 1 ligoje |
| IFT122intraflagellar transport 122 | Kartais (5–29%) | 1 ligoje |
| KIAA0586KIAA0586 | Kartais (5–29%) | 1 ligoje |
| KIF11kinesin family member 11 | Kartais (5–29%) | 1 ligoje |
| LAMA1laminin subunit alpha 1 | Kartais (5–29%) | 2 ligose |
| LRP2LDL receptor related protein 2 | Kartais (5–29%) | 2 ligose |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Kartais (5–29%) | 1 ligoje |
| PGK1phosphoglycerate kinase 1 | Kartais (5–29%) | 2 ligose |
| SLC19A2solute carrier family 19 member 2 | Kartais (5–29%) | 1 ligoje |
| ZPR1ZPR1 zinc finger | Kartais (5–29%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Retai (1–4 %) | 1 ligoje |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Retai (1–4 %) | 1 ligoje |
| NEK1NIMA related kinase 1 | Retai (1–4 %) | 1 ligoje |
| CCDC28Bcoiled-coil domain containing 28B | Neužfiksuota | 1 ligoje |
| DRAM2DNA damage regulated autophagy modulator 2 | Neužfiksuota | 1 ligoje |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Neužfiksuota | 1 ligoje |
| ITM2Bintegral membrane protein 2B | Neužfiksuota | 1 ligoje |
| LRATlecithin retinol acyltransferase | Neužfiksuota | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Neužfiksuota | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Neužfiksuota | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Neužfiksuota | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Neužfiksuota | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Neužfiksuota | 1 ligoje |
| PEX26peroxisomal biogenesis factor 26 | Neužfiksuota | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Neužfiksuota | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Neužfiksuota | 1 ligoje |
| RBP4retinol binding protein 4 | Neužfiksuota | 1 ligoje |
| RDH12retinol dehydrogenase 12 | Neužfiksuota | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Neužfiksuota | 2 ligose |
| RPGRIP1LRPGRIP1 like | Neužfiksuota | 1 ligoje |
| SIX6SIX homeobox 6 | Neužfiksuota | 1 ligoje |
| TUBGCP6tubulin gamma complex component 6 | 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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