Træk
Severe near sightedness
Klinisk navn: High myopia
A severe form of myopia with greater than -6.00 diopters.
Resumé
- Også kaldet
- Severely close sighted, Severely near sighted, Severe myopia, Severe myopia (> -6.00 diopters)
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test110 gener knyttet til Severe near sightedness
Ændringer i disse gener forårsager sjældne tilstande, hvor Severe near sightedness ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Altid | I 2 tilstande |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Altid | I 2 tilstande |
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| ARR3arrestin 3 | Altid | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Altid | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Altid | I 2 tilstande |
| COL2A1collagen type II alpha 1 chain | Altid | I 2 tilstande |
| COL9A2collagen type IX alpha 2 chain | Altid | I 2 tilstande |
| FBN1fibrillin 1 | Altid | I 4 tilstande |
| FEM1Bfem-1 homolog B | Altid | I 1 tilstand |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Altid | I 1 tilstand |
| GZF1GDNF inducible zinc finger protein 1 | Altid | I 1 tilstand |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| LOXL3lysyl oxidase like 3 | Altid | I 2 tilstande |
| LRIT3leucine rich repeat, Ig-like and transmembrane domains 3 | Altid | I 1 tilstand |
| LRP2LDL receptor related protein 2 | Altid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| NHEJ1non-homologous end joining factor 1 | Altid | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Altid | I 1 tilstand |
| PAK2p21 (RAC1) activated kinase 2 | Altid | I 1 tilstand |
| PDE6Hphosphodiesterase 6H | Altid | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Altid | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Altid | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Altid | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Altid | I 1 tilstand |
| PRIMPOLprimase and DNA directed polymerase | Altid | I 1 tilstand |
| RAB28RAB28, member RAS oncogene family | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SLC39A5solute carrier family 39 member 5 | Altid | I 1 tilstand |
| SLITRK6SLIT and NTRK like family member 6 | Altid | I 1 tilstand |
| TMEM216transmembrane protein 216 | Altid | I 1 tilstand |
| UBAP1Lubiquitin associated protein 1 like | Altid | I 1 tilstand |
| ZNF644zinc finger protein 644 | Altid | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V1AATPase H+ transporting V1 subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Meget ofte (80–99 %) | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Meget ofte (80–99 %) | I 1 tilstand |
| COL9A1collagen type IX alpha 1 chain | Meget ofte (80–99 %) | I 2 tilstande |
| COL9A3collagen type IX alpha 3 chain | Meget ofte (80–99 %) | I 2 tilstande |
Vis 70 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CPSF1cleavage and polyadenylation specific factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HYAL2hyaluronidase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Meget ofte (80–99 %) | I 2 tilstande |
| NYXnyctalopin | Meget ofte (80–99 %) | I 1 tilstand |
| P3H2prolyl 3-hydroxylase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ASPHaspartate beta-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 2 tilstande |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Ofte (30–79 %) | I 2 tilstande |
| EFL1elongation factor like GTPase 1 | Ofte (30–79 %) | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Ofte (30–79 %) | I 1 tilstand |
| EXOSC2exosome component 2 | Ofte (30–79 %) | I 1 tilstand |
| FZD5frizzled class receptor 5 | Ofte (30–79 %) | I 1 tilstand |
| GLRA2glycine receptor alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 1 tilstand |
| IRX5iroquois homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| ITGAVintegrin subunit alpha V | Ofte (30–79 %) | I 1 tilstand |
| KAT5lysine acetyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| MANFmesencephalic astrocyte derived neurotrophic factor | Ofte (30–79 %) | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| PAX2paired box 2 | Ofte (30–79 %) | I 1 tilstand |
| PRDM5PR/SET domain 5 | Ofte (30–79 %) | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Ofte (30–79 %) | I 2 tilstande |
| RP2RP2 activator of ARL3 GTPase | Ofte (30–79 %) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Ofte (30–79 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Ofte (30–79 %) | I 1 tilstand |
| TTLL5tubulin tyrosine ligase like 5 | Ofte (30–79 %) | I 1 tilstand |
| VPS50VPS50 subunit of EARP/GARPII complex | Ofte (30–79 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Ofte (30–79 %) | I 1 tilstand |
| ZNF469zinc finger protein 469 | Ofte (30–79 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTSL4ADAMTS like 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CCNQcyclin Q | Nogle gange (5–29 %) | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Nogle gange (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Nogle gange (5–29 %) | I 1 tilstand |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DOHHdeoxyhypusine hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GPR179G protein-coupled receptor 179 | Nogle gange (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Nogle gange (5–29 %) | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| MYOCmyocilin | Nogle gange (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Nogle gange (5–29 %) | I 1 tilstand |
| POC1BPOC1 centriolar protein B | Nogle gange (5–29 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFBItransforming growth factor beta induced | Nogle gange (5–29 %) | I 1 tilstand |
| TTRtransthyretin | Nogle gange (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Sjældent (1–4%) | I 2 tilstande |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Ikke registreret | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Ikke registreret | I 1 tilstand |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Ikke registreret | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registreret | I 1 tilstand |
| LRPAP1LDL receptor related protein associated protein 1 | Ikke registreret | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ikke registreret | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger