Egenskap
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.
Sammendrag
- Også kalt
- Optic nerve head drusen
- Kroppssystem
- Abnormality of the eye
ReferansegenomGRCh38hg38
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Få mitt Genome Test119 gener knyttet til Optic disc drusen
Endringer i disse genene forårsaker sjeldne tilstander der Optic disc drusen forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| IFT172intraflagellar transport 172 | Alltid | I 2 tilstander |
| MFRPmembrane frizzled-related protein | Alltid | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Alltid | I 1 tilstand |
| ABCA4ATP binding cassette subfamily A member 4 | Ofte (30–79 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Ofte (30–79 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Ofte (30–79 %) | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Ofte (30–79 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 2 tilstander |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Ofte (30–79 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Ofte (30–79 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Ofte (30–79 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 1 tilstand |
| BEST1bestrophin 1 | Ofte (30–79 %) | I 1 tilstand |
| CA4carbonic anhydrase 4 | Ofte (30–79 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Ofte (30–79 %) | I 2 tilstander |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 1 tilstand |
| CDHR1cadherin related family member 1 | Ofte (30–79 %) | I 1 tilstand |
| CERKLCERK like autophagy regulator | Ofte (30–79 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Ofte (30–79 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ofte (30–79 %) | I 1 tilstand |
| CLRN1clarin 1 | Ofte (30–79 %) | I 1 tilstand |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Ofte (30–79 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Ofte (30–79 %) | I 2 tilstander |
| CRXcone-rod homeobox | Ofte (30–79 %) | I 2 tilstander |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Ofte (30–79 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Ofte (30–79 %) | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Ofte (30–79 %) | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Ofte (30–79 %) | I 1 tilstand |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Ofte (30–79 %) | I 1 tilstand |
| GUCA1Bguanylate cyclase activator 1B | Ofte (30–79 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| HKDC1hexokinase domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Ofte (30–79 %) | I 2 tilstander |
Vis 79 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| IFT88intraflagellar transport 88 | Ofte (30–79 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Ofte (30–79 %) | I 2 tilstander |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Ofte (30–79 %) | I 1 tilstand |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Ofte (30–79 %) | I 2 tilstander |
| KIAA1549KIAA1549 | Ofte (30–79 %) | I 1 tilstand |
| KIZkizuna centrosomal protein | Ofte (30–79 %) | I 1 tilstand |
| KLHL7kelch like family member 7 | Ofte (30–79 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Ofte (30–79 %) | I 2 tilstander |
| LRATlecithin retinol acyltransferase | Ofte (30–79 %) | I 3 tilstander |
| MAKmale germ cell associated kinase | Ofte (30–79 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| NEK2NIMA related kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Ofte (30–79 %) | I 1 tilstand |
| NRLneural retina leucine zipper | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Ofte (30–79 %) | I 2 tilstander |
| PCAREphotoreceptor cilium actin regulator | Ofte (30–79 %) | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Ofte (30–79 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Ofte (30–79 %) | I 1 tilstand |
| PDE6Gphosphodiesterase 6G | Ofte (30–79 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofte (30–79 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Ofte (30–79 %) | I 1 tilstand |
| PROM1prominin 1 | Ofte (30–79 %) | I 1 tilstand |
| PRPF3pre-mRNA processing factor 3 | Ofte (30–79 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Ofte (30–79 %) | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Ofte (30–79 %) | I 1 tilstand |
| PRPF6pre-mRNA processing factor 6 | Ofte (30–79 %) | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Ofte (30–79 %) | I 2 tilstander |
| PRPH2peripherin 2 | Ofte (30–79 %) | I 3 tilstander |
| RBP3retinol binding protein 3 | Ofte (30–79 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Ofte (30–79 %) | I 2 tilstander |
| REEP6receptor accessory protein 6 | Ofte (30–79 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Ofte (30–79 %) | I 1 tilstand |
| RHOrhodopsin | Ofte (30–79 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-1RNA, U6 small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Ofte (30–79 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Ofte (30–79 %) | I 1 tilstand |
| RP1L1RP1 like 1 | Ofte (30–79 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Ofte (30–79 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Ofte (30–79 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Ofte (30–79 %) | I 3 tilstander |
| RPGRretinitis pigmentosa GTPase regulator | Ofte (30–79 %) | I 1 tilstand |
| SAGS-antigen visual arrestin | Ofte (30–79 %) | I 1 tilstand |
| SAXO6stabilizer of axonemal microtubules 6 | Ofte (30–79 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Ofte (30–79 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Ofte (30–79 %) | I 1 tilstand |
| SLC7A14solute carrier family 7 member 14 | Ofte (30–79 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Ofte (30–79 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Ofte (30–79 %) | I 3 tilstander |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Ofte (30–79 %) | I 1 tilstand |
| TUBTUB bipartite transcription factor | Ofte (30–79 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Ofte (30–79 %) | I 2 tilstander |
| USH2Ausherin | Ofte (30–79 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Ofte (30–79 %) | I 1 tilstand |
| ZNF513zinc finger protein 513 | Ofte (30–79 %) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Noen ganger (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Noen ganger (5–29 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Noen ganger (5–29 %) | I 2 tilstander |
| IQCB1IQ motif containing B1 | Noen ganger (5–29 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Noen ganger (5–29 %) | I 1 tilstand |
| RD3RD3 regulator of GUCY2D | Noen ganger (5–29 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM98transmembrane protein 98 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB4Btubulin beta 4B class IVb | Noen ganger (5–29 %) | I 1 tilstand |
| USP45ubiquitin specific peptidase 45 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Ikke registrert | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Ikke registrert | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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- Datautgave 2026.10.16-c6eea6bf.
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