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Özellik
Optic disc drusen
Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.
Özet
- Diğer adları
- Optic nerve head drusen
- Vücut sistemi
- Abnormality of the eye
AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
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Bu sayfanın veri olarak görünümü
Veriyi JSON olarak okumak için sayfa adresinin sonuna .json ekleyin veya application/json isteyin.
library(jsonlite)
url <- "https://dantelabs.com/traits/optic-disc-drusen.json"
page <- fromJSON(url)
page$trait$nameOptic disc drusenHP:0012426
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Optic disc drusen ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
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Genome Test'imi al45 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Retinitis PigmentosaReads 74 of these genesIFT172ABCA4AGBL5AHRARHGEF18ARL2BPAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 20 of these genesCRB1CRXIMPDH1KCNJ13LCA5LRATAbout this report →
- Bardet-Biedl and Alström SyndromesReads 8 of these genesIFT172ALMS1ARL6BBS1BBS2CFAP418About this report →
- Congenital Stationary Night BlindnessReads 7 of these genesCABP4PDE6BPRPH2RHORLBP1SAGAbout this report →
Show 41 more reports
- Hereditary Macular DystrophiesReads 5 of these genesBEST1PRPH2RLBP1ROM1RP1L1About this report →
- VitreoretinopathyReads 6 of these genesBEST1KCNJ13NR2E3NRLZNF408XYLT2About this report →
- RDH5-Related Retinopathy (Fundus Albipunctatus)Reads 2 of these genesPRPH2RLBP1About this report →
- Stargardt DiseaseReads 2 of these genesABCA4PROM1About this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- GUCY2D-Related Dominant Cone-Rod DystrophyReads 1 of these genesGUCY2DAbout this report →
- GUCY2D-Related Recessive RetinopathyReads 1 of these genesGUCY2DAbout this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- IMPG1-Related Dominant RetinopathyReads 1 of these genesIMPG1About this report →
- IMPG1-Related RetinopathyReads 1 of these genesIMPG1About this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- PROM1-Related Recessive RetinopathyReads 1 of these genesPROM1About this report →
- RDH12-Related Early-Onset Retinal DystrophyReads 1 of these genesRDH12About this report →
- Spondylometaphyseal Dysplasia With Cone-Rod DystrophyReads 1 of these genesPCYT1AAbout this report →
- TUBB4B-Related CiliopathyReads 1 of these genesTUBB4BAbout this report →
- Joubert Syndrome And Related DisordersReads 6 of these genesAHI1ARL3CC2D2AOFD1TMEM216CEP290About this report →
- Pseudoxanthoma ElasticumReads 1 of these genesABCC6About this report →
- Usher SyndromeReads 2 of these genesCLRN1USH2AAbout this report →
- Hereditary Arterial CalcificationReads 1 of these genesABCC6About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesMFRPOTX2TMEM98About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 4 of these genesAHI1CC2D2ATMEM216CEP290About this report →
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)Reads 1 of these genesHGSNATAbout this report →
- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesGDF6About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesIFT43About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesXYLT1About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesIQCB1About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesKLHL7About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesRNU4-2About this report →
- Syndromic CraniosynostosisReads 1 of these genesIFT43About this report →
- Inherited Neurodegenerative DisordersReads 4 of these genesAHI1CC2D2ATMEM216CEP290About this report →
- Congenital Disorders of GlycosylationReads 2 of these genesDHDDSPOMGNT1About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesOTX2About this report →
- Congenital Muscular DystrophiesReads 1 of these genesPOMGNT1About this report →
- Nephrotic SyndromeReads 1 of these genesCOQ8BAbout this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesPOMGNT1About this report →
- Osteogenesis ImperfectaReads 1 of these genesXYLT2About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesOTX2About this report →
- Lysosomal Storage DiseaseReads 1 of these genesHGSNATAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesKLHL7About this report →
- Intellectual DisabilityReads 1 of these genesSCAPERAbout this report →
Optic disc drusen ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi alOptic disc drusen ile ilişkili 119 gen
Bu genlerdeki değişiklikler, Optic disc drusen özelliğinin görüldüğü nadir durumlara yol açar. Bu özelliğe sahip çoğu kişide bu durumlardan hiçbiri yoktur; ayrıca bu listedeki bir gen, kimsenin kendi genomu hakkında bir şey söylemez.
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| IFT172intraflagellar transport 172 | Her zaman | 2 durumda |
| MFRPmembrane frizzled-related protein | Her zaman | 1 durumda |
| TM2D3TM2 domain containing 3 | Her zaman | 1 durumda |
| ABCA4ATP binding cassette subfamily A member 4 | Sık (%30–79) | 1 durumda |
| AGBL5AGBL carboxypeptidase 5 | Sık (%30–79) | 1 durumda |
| AHI1Abelson helper integration site 1 | Sık (%30–79) | 1 durumda |
| AHRaryl hydrocarbon receptor | Sık (%30–79) | 1 durumda |
| ALMS1ALMS1 centrosome and basal body associated protein | Sık (%30–79) | 2 durumda |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Sık (%30–79) | 1 durumda |
| ARL2BPARF like GTPase 2 binding protein | Sık (%30–79) | 1 durumda |
| ARL3ARF like GTPase 3 | Sık (%30–79) | 1 durumda |
| ARL6ARF like GTPase 6 | Sık (%30–79) | 1 durumda |
| BBS1Bardet-Biedl syndrome 1 | Sık (%30–79) | 1 durumda |
| BBS2Bardet-Biedl syndrome 2 | Sık (%30–79) | 1 durumda |
| BEST1bestrophin 1 | Sık (%30–79) | 1 durumda |
| CA4carbonic anhydrase 4 | Sık (%30–79) | 1 durumda |
| CABP4calcium binding protein 4 | Sık (%30–79) | 2 durumda |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sık (%30–79) | 1 durumda |
| CDHR1cadherin related family member 1 | Sık (%30–79) | 1 durumda |
| CERKLCERK like autophagy regulator | Sık (%30–79) | 1 durumda |
| CFAP20cilia and flagella associated protein 20 | Sık (%30–79) | 1 durumda |
| CFAP418cilia and flagella associated protein 418 | Sık (%30–79) | 1 durumda |
| CLRN1clarin 1 | Sık (%30–79) | 1 durumda |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Sık (%30–79) | 1 durumda |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Sık (%30–79) | 1 durumda |
| COQ8Bcoenzyme Q8B | Sık (%30–79) | 1 durumda |
| CRB1crumbs cell polarity complex component 1 | Sık (%30–79) | 2 durumda |
| CRXcone-rod homeobox | Sık (%30–79) | 2 durumda |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Sık (%30–79) | 1 durumda |
| DHX38DEAH-box helicase 38 | Sık (%30–79) | 1 durumda |
| EYSEGF-like photoreceptor maintenance factor | Sık (%30–79) | 1 durumda |
| FAM161AFAM161 centrosomal protein A | Sık (%30–79) | 1 durumda |
| FSCN2fascin actin-bundling protein 2, retinal | Sık (%30–79) | 1 durumda |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Sık (%30–79) | 1 durumda |
| GUCA1Bguanylate cyclase activator 1B | Sık (%30–79) | 1 durumda |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Sık (%30–79) | 1 durumda |
| HKDC1hexokinase domain containing 1 | Sık (%30–79) | 1 durumda |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Sık (%30–79) | 1 durumda |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Sık (%30–79) | 1 durumda |
| IFT140intraflagellar transport 140 | Sık (%30–79) | 2 durumda |
79 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| IFT43intraflagellar transport 43 | Sık (%30–79) | 1 durumda |
| IFT88intraflagellar transport 88 | Sık (%30–79) | 1 durumda |
| IMPDH1inosine monophosphate dehydrogenase 1 | Sık (%30–79) | 2 durumda |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Sık (%30–79) | 1 durumda |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Sık (%30–79) | 1 durumda |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Sık (%30–79) | 2 durumda |
| KIAA1549KIAA1549 | Sık (%30–79) | 1 durumda |
| KIZkizuna centrosomal protein | Sık (%30–79) | 1 durumda |
| KLHL7kelch like family member 7 | Sık (%30–79) | 1 durumda |
| LCA5lebercilin LCA5 | Sık (%30–79) | 2 durumda |
| LRATlecithin retinol acyltransferase | Sık (%30–79) | 3 durumda |
| MAKmale germ cell associated kinase | Sık (%30–79) | 1 durumda |
| MERTKMER proto-oncogene, tyrosine kinase | Sık (%30–79) | 1 durumda |
| NEK2NIMA related kinase 2 | Sık (%30–79) | 1 durumda |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Sık (%30–79) | 1 durumda |
| NRLneural retina leucine zipper | Sık (%30–79) | 1 durumda |
| OFD1OFD1 centriole and centriolar satellite protein | Sık (%30–79) | 1 durumda |
| OTX2orthodenticle homeobox 2 | Sık (%30–79) | 2 durumda |
| PCAREphotoreceptor cilium actin regulator | Sık (%30–79) | 1 durumda |
| PDE6Aphosphodiesterase 6A | Sık (%30–79) | 1 durumda |
| PDE6Bphosphodiesterase 6B | Sık (%30–79) | 1 durumda |
| PDE6Gphosphodiesterase 6G | Sık (%30–79) | 1 durumda |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sık (%30–79) | 1 durumda |
| PRCDphotoreceptor disc component | Sık (%30–79) | 1 durumda |
| PROM1prominin 1 | Sık (%30–79) | 1 durumda |
| PRPF3pre-mRNA processing factor 3 | Sık (%30–79) | 1 durumda |
| PRPF31pre-mRNA processing factor 31 | Sık (%30–79) | 1 durumda |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Sık (%30–79) | 1 durumda |
| PRPF6pre-mRNA processing factor 6 | Sık (%30–79) | 1 durumda |
| PRPF8pre-mRNA processing factor 8 | Sık (%30–79) | 2 durumda |
| PRPH2peripherin 2 | Sık (%30–79) | 3 durumda |
| RBP3retinol binding protein 3 | Sık (%30–79) | 1 durumda |
| RDH12retinol dehydrogenase 12 | Sık (%30–79) | 2 durumda |
| REEP6receptor accessory protein 6 | Sık (%30–79) | 1 durumda |
| RGRretinal G protein coupled receptor | Sık (%30–79) | 1 durumda |
| RHOrhodopsin | Sık (%30–79) | 1 durumda |
| RLBP1retinaldehyde binding protein 1 | Sık (%30–79) | 1 durumda |
| RNU4-2RNA, U4 small nuclear 2 | Sık (%30–79) | 1 durumda |
| RNU6-1RNA, U6 small nuclear 1 | Sık (%30–79) | 1 durumda |
| RNU6-2RNA, U6 small nuclear 2 | Sık (%30–79) | 1 durumda |
| RNU6-8RNA, U6 small nuclear 8 | Sık (%30–79) | 1 durumda |
| RNU6-9RNA, U6 small nuclear 9 | Sık (%30–79) | 1 durumda |
| ROM1retinal outer segment membrane protein 1 | Sık (%30–79) | 1 durumda |
| RP1RP1 axonemal microtubule associated | Sık (%30–79) | 1 durumda |
| RP1L1RP1 like 1 | Sık (%30–79) | 1 durumda |
| RP2RP2 activator of ARL3 GTPase | Sık (%30–79) | 1 durumda |
| RP9RP9 pre-mRNA splicing factor | Sık (%30–79) | 1 durumda |
| RPE65retinoid isomerohydrolase RPE65 | Sık (%30–79) | 3 durumda |
| RPGRretinitis pigmentosa GTPase regulator | Sık (%30–79) | 1 durumda |
| SAGS-antigen visual arrestin | Sık (%30–79) | 1 durumda |
| SAXO6stabilizer of axonemal microtubules 6 | Sık (%30–79) | 1 durumda |
| SCAPERS-phase cyclin A associated protein in the ER | Sık (%30–79) | 1 durumda |
| SEMA4Asemaphorin 4A | Sık (%30–79) | 1 durumda |
| SLC7A14solute carrier family 7 member 14 | Sık (%30–79) | 1 durumda |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Sık (%30–79) | 1 durumda |
| SPATA7spermatogenesis associated 7 | Sık (%30–79) | 3 durumda |
| TMEM216transmembrane protein 216 | Sık (%30–79) | 1 durumda |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Sık (%30–79) | 1 durumda |
| TTC8tetratricopeptide repeat domain 8 | Sık (%30–79) | 1 durumda |
| TUBTUB bipartite transcription factor | Sık (%30–79) | 1 durumda |
| TULP1TUB like protein 1 | Sık (%30–79) | 2 durumda |
| USH2Ausherin | Sık (%30–79) | 1 durumda |
| ZNF408zinc finger protein 408 | Sık (%30–79) | 1 durumda |
| ZNF513zinc finger protein 513 | Sık (%30–79) | 1 durumda |
| AIPL1AIP like 1 HSP90 co-chaperone | Bazen (%5–29) | 1 durumda |
| CEP290centrosomal protein 290 | Bazen (%5–29) | 1 durumda |
| GDF6growth differentiation factor 6 | Bazen (%5–29) | 1 durumda |
| GUCY2Dguanylate cyclase 2D, retinal | Bazen (%5–29) | 2 durumda |
| IQCB1IQ motif containing B1 | Bazen (%5–29) | 1 durumda |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Bazen (%5–29) | 1 durumda |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Bazen (%5–29) | 1 durumda |
| RD3RD3 regulator of GUCY2D | Bazen (%5–29) | 1 durumda |
| RPGRIP1RPGR interacting protein 1 | Bazen (%5–29) | 1 durumda |
| TMEM98transmembrane protein 98 | Bazen (%5–29) | 1 durumda |
| TUBB4Btubulin beta 4B class IVb | Bazen (%5–29) | 1 durumda |
| USP45ubiquitin specific peptidase 45 | Bazen (%5–29) | 1 durumda |
| ABCC6ATP binding cassette subfamily C member 6 | Kaydedilmedi | 1 durumda |
| XYLT1xylosyltransferase 1 | Kaydedilmedi | 1 durumda |
| XYLT2xylosyltransferase 2 | Kaydedilmedi | 1 durumda |
Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.
Daha geniş özellikler
Bilgilerin kaynağı
- Human Phenotype Ontology, 2026-09-01 sürümü: özellik, adları, tanımı ve buna bağlı genler. Ayrıntılar için hpo.jax.org adresine bakın.
- Veri sürümü 2026.10.19-9814e911.
AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorGenomunuzu dizileyin↗
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