Tunnus
Breakdown of light-sensitive cells in back of eye
Kliiniline nimetus: 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.
Kokkuvõte
- Kehasüsteem
- Abnormality of the eye
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Breakdown of light-sensitive cells in back of eye, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test127 geeni on seotud tunnusega Breakdown of light-sensitive cells in back of eye
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Breakdown of light-sensitive cells in back of eye. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ACO2aconitase 2 | Alati | Esineb 1 haiguses |
| ARL6ARF like GTPase 6 | Alati | Esineb 2 haiguses |
| ARV1ARV1 fatty acid homeostasis modulator | Alati | Esineb 1 haiguses |
| BBIP1BBSome interacting protein 1 | Alati | Esineb 2 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Alati | Esineb 2 haiguses |
| BBS10Bardet-Biedl syndrome 10 | Alati | Esineb 2 haiguses |
| BBS12Bardet-Biedl syndrome 12 | Alati | Esineb 1 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Alati | Esineb 1 haiguses |
| BBS4Bardet-Biedl syndrome 4 | Alati | Esineb 1 haiguses |
| BBS5Bardet-Biedl syndrome 5 | Alati | Esineb 1 haiguses |
| BBS7Bardet-Biedl syndrome 7 | Alati | Esineb 1 haiguses |
| BBS9Bardet-Biedl syndrome 9 | Alati | Esineb 1 haiguses |
| CEP19centrosomal protein 19 | Alati | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Alati | Esineb 3 haiguses |
| CFAP410cilia and flagella associated protein 410 | Alati | Esineb 1 haiguses |
| CFAP418cilia and flagella associated protein 418 | Alati | Esineb 1 haiguses |
| DAG1dystroglycan 1 | Alati | Esineb 3 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 2 haiguses |
| IFT172intraflagellar transport 172 | Alati | Esineb 1 haiguses |
| IFT27intraflagellar transport 27 | Alati | Esineb 1 haiguses |
| IFT74intraflagellar transport 74 | Alati | Esineb 1 haiguses |
| INTS11integrator complex subunit 11 | Alati | Esineb 1 haiguses |
| LZTFL1leucine zipper transcription factor like 1 | Alati | Esineb 1 haiguses |
| MKKSMKKS centrosomal shuttling protein | Alati | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Alati | Esineb 2 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Alati | Esineb 1 haiguses |
| NPHP1nephrocystin 1 | Alati | Esineb 3 haiguses |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 1 haiguses |
| RCBTB1RCC1 and BTB domain containing protein 1 | Alati | Esineb 1 haiguses |
| RDH11retinol dehydrogenase 11 | Alati | Esineb 1 haiguses |
| RNU6ATACRNA, U6atac small nuclear | Alati | Esineb 1 haiguses |
| SCAPERS-phase cyclin A associated protein in the ER | Alati | Esineb 1 haiguses |
| SCLT1sodium channel and clathrin linker 1 | Alati | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Alati | Esineb 2 haiguses |
| TMEM218transmembrane protein 218 | Alati | Esineb 1 haiguses |
| TMEM63Btransmembrane protein 63B | Alati | Esineb 1 haiguses |
| TRIM32tripartite motif containing 32 | Alati | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Alati | Esineb 1 haiguses |
Näita veel 87 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| TUBTUB bipartite transcription factor | Alati | Esineb 1 haiguses |
| UBAP1Lubiquitin associated protein 1 like | Alati | Esineb 1 haiguses |
| WDPCPWD repeat containing planar cell polarity effector | Alati | Esineb 1 haiguses |
| AHI1Abelson helper integration site 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Väga sageli (80–99%) | Esineb 2 haiguses |
| CEP120centrosomal protein 120 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP164centrosomal protein 164 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP41centrosomal protein 41 | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL4A1collagen type IV alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKTNfukutin | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT54intraflagellar transport 54 | Väga sageli (80–99%) | Esineb 2 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Väga sageli (80–99%) | Esineb 4 haiguses |
| INVSinversin | Väga sageli (80–99%) | Esineb 1 haiguses |
| IQCB1IQ motif containing B1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NPHP3nephrocystin 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NPHP4nephrocystin 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMKprotein O-mannose kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMT2protein O-mannosyltransferase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RXYLT1ribitol xylosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SH2B1SH2B adaptor protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM138transmembrane protein 138 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TMEM216transmembrane protein 216 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TMEM231transmembrane protein 231 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR19WD repeat domain 19 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZNF423zinc finger protein 423 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BUD13BUD13 spliceosome associated protein | Sageli (30–79%) | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GRNgranulin precursor | Sageli (30–79%) | Esineb 1 haiguses |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RNF113Aring finger protein 113A | Sageli (30–79%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Sageli (30–79%) | Esineb 2 haiguses |
| VPS4Avacuolar protein sorting 4 homolog A | Sageli (30–79%) | Esineb 1 haiguses |
| ANK1ankyrin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARMC9armadillo repeat containing 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMP4bone morphogenetic protein 4 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CCNQcyclin Q | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRYABcrystallin alpha B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXOSC3exosome component 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCCSholocytochrome c synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HID1HID1 domain containing | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT122intraflagellar transport 122 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIAA0586KIAA0586 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF11kinesin family member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMA1laminin subunit alpha 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| LRP2LDL receptor related protein 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGK1phosphoglycerate kinase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC19A2solute carrier family 19 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZPR1ZPR1 zinc finger | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Harva (1–4%) | Esineb 1 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Harva (1–4%) | Esineb 1 haiguses |
| NEK1NIMA related kinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| CCDC28Bcoiled-coil domain containing 28B | Pole registreeritud | Esineb 1 haiguses |
| DRAM2DNA damage regulated autophagy modulator 2 | Pole registreeritud | Esineb 1 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Pole registreeritud | Esineb 1 haiguses |
| ITM2Bintegral membrane protein 2B | Pole registreeritud | Esineb 1 haiguses |
| LRATlecithin retinol acyltransferase | Pole registreeritud | Esineb 1 haiguses |
| OTX2orthodenticle homeobox 2 | Pole registreeritud | Esineb 1 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Pole registreeritud | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Pole registreeritud | Esineb 1 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Pole registreeritud | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Pole registreeritud | Esineb 1 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Pole registreeritud | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Pole registreeritud | Esineb 1 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Pole registreeritud | Esineb 1 haiguses |
| RBP4retinol binding protein 4 | Pole registreeritud | Esineb 1 haiguses |
| RDH12retinol dehydrogenase 12 | Pole registreeritud | Esineb 1 haiguses |
| RLBP1retinaldehyde binding protein 1 | Pole registreeritud | Esineb 2 haiguses |
| RPGRIP1LRPGRIP1 like | Pole registreeritud | Esineb 1 haiguses |
| SIX6SIX homeobox 6 | Pole registreeritud | Esineb 1 haiguses |
| TUBGCP6tubulin gamma complex component 6 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast