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Požymis
Blue outer white part of eyeball
Klinikinis pavadinimas: Blue sclerae
An abnormal bluish coloration of the sclera.
Santrauka
- Taip pat vadinama
- Whites of eyes are a bluish-gray color, Blue sclera, Bluish sclerae, Gray sclerae, Grey sclerae, Whites of eyes are a bluish-gray colour
- Kūno sistema
- Abnormality of the eye
Blue outer white part of eyeballHP:0000592
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Read the genes linked to Blue outer white part of eyeball, and the rest of your genome, with one test.
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Įsigyti savo Genome Test111 genų susiję su Blue outer white part of eyeball
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Blue outer white part of eyeball. 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 |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Visada | 2 ligose |
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Visada | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Visada | 2 ligose |
| COL1A1collagen type I alpha 1 chain | Visada | 6 ligose |
| COL1A2collagen type I alpha 2 chain | Visada | 5 ligose |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Visada | 1 ligoje |
| CRTAPcartilage associated protein | Visada | 2 ligose |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| DSEdermatan sulfate epimerase | Visada | 2 ligose |
| EXOSC1exosome component 1 | Visada | 1 ligoje |
| FKBP10FKBP prolyl isomerase 10 | Visada | 1 ligoje |
| GNB2G protein subunit beta 2 | Visada | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Visada | 2 ligose |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Visada | 2 ligose |
| PPIBpeptidylprolyl isomerase B | Visada | 1 ligoje |
| PRDM5PR/SET domain 5 | Visada | 2 ligose |
| PUS3pseudouridine synthase 3 | Visada | 2 ligose |
| PYCR1pyrroline-5-carboxylate reductase 1 | Visada | 2 ligose |
| RBSNrabenosyn, RAB effector | Visada | 1 ligoje |
| SERPINF1serpin family F member 1 | Visada | 1 ligoje |
| SERPINH1serpin family H member 1 | Visada | 1 ligoje |
| TENT5Aterminal nucleotidyltransferase 5A | Visada | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Visada | 2 ligose |
| WWOXWW domain containing oxidoreductase | Visada | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Labai dažnai (80–99%) | 1 ligoje |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Labai dažnai (80–99%) | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Labai dažnai (80–99%) | 1 ligoje |
| NFIXnuclear factor I X | Labai dažnai (80–99%) | 2 ligose |
| P4HBprolyl 4-hydroxylase subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| PHLDB1pleckstrin homology like domain family B member 1 | Labai dažnai (80–99%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Labai dažnai (80–99%) | 1 ligoje |
| SEC24DSEC24 homolog D, COPII component | Labai dažnai (80–99%) | 2 ligose |
| SLC39A13solute carrier family 39 member 13 | Labai dažnai (80–99%) | 2 ligose |
| ZNF469zinc finger protein 469 | Labai dažnai (80–99%) | 2 ligose |
| B3GALT6beta-1,3-galactosyltransferase 6 | Dažnai (30–79%) | 3 ligose |
| B4GALT7beta-1,4-galactosyltransferase 7 | Dažnai (30–79%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Dažnai (30–79%) | 1 ligoje |
| BMP1bone morphogenetic protein 1 | Dažnai (30–79%) | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 71 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| COG4component of oligomeric golgi complex 4 | Dažnai (30–79%) | 1 ligoje |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| CTSKcathepsin K | Dažnai (30–79%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Dažnai (30–79%) | 2 ligose |
| DVL3dishevelled segment polarity protein 3 | Dažnai (30–79%) | 2 ligose |
| EMILIN1elastin microfibril interfacer 1 | Dažnai (30–79%) | 1 ligoje |
| FBN1fibrillin 1 | Dažnai (30–79%) | 1 ligoje |
| IPO8importin 8 | Dažnai (30–79%) | 2 ligose |
| KDM1Alysine demethylase 1A | Dažnai (30–79%) | 2 ligose |
| KDM6Alysine demethylase 6A | Dažnai (30–79%) | 3 ligose |
| KMT2Alysine methyltransferase 2A | Dažnai (30–79%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Dažnai (30–79%) | 2 ligose |
| MESDmesoderm development LRP chaperone | Dažnai (30–79%) | 1 ligoje |
| MVKmevalonate kinase | Dažnai (30–79%) | 2 ligose |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Dažnai (30–79%) | 1 ligoje |
| PRKG2protein kinase cGMP-dependent 2 | Dažnai (30–79%) | 1 ligoje |
| RPS23ribosomal protein S23 | Dažnai (30–79%) | 1 ligoje |
| RYR3ryanodine receptor 3 | Dažnai (30–79%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Dažnai (30–79%) | 1 ligoje |
| SMAD2SMAD family member 2 | Dažnai (30–79%) | 1 ligoje |
| SMAD3SMAD family member 3 | Dažnai (30–79%) | 2 ligose |
| TGFB2transforming growth factor beta 2 | Dažnai (30–79%) | 1 ligoje |
| TGFBR1transforming growth factor beta receptor 1 | Dažnai (30–79%) | 2 ligose |
| TGFBR2transforming growth factor beta receptor 2 | Dažnai (30–79%) | 2 ligose |
| TMEM38Btransmembrane protein 38B | Dažnai (30–79%) | 1 ligoje |
| TRMT5tRNA methyltransferase 5 | Dažnai (30–79%) | 1 ligoje |
| WASF1WASP family member 1 | Dažnai (30–79%) | 1 ligoje |
| WNT1Wnt family member 1 | Dažnai (30–79%) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Dažnai (30–79%) | 2 ligose |
| ABCC6ATP binding cassette subfamily C member 6 | Kartais (5–29%) | 2 ligose |
| CA2carbonic anhydrase 2 | Kartais (5–29%) | 1 ligoje |
| CHSY1chondroitin sulfate synthase 1 | Kartais (5–29%) | 2 ligose |
| COL12A1collagen type XII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL5A1collagen type V alpha 1 chain | Kartais (5–29%) | 2 ligose |
| CYB5Acytochrome b5 type A | Kartais (5–29%) | 1 ligoje |
| CYB5R3cytochrome b5 reductase 3 | Kartais (5–29%) | 1 ligoje |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Kartais (5–29%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Kartais (5–29%) | 2 ligose |
| FKBP14FKBP prolyl isomerase 14 | Kartais (5–29%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Kartais (5–29%) | 1 ligoje |
| GDF11growth differentiation factor 11 | Kartais (5–29%) | 1 ligoje |
| GHRgrowth hormone receptor | Kartais (5–29%) | 2 ligose |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Kartais (5–29%) | 1 ligoje |
| IFITM5interferon induced transmembrane protein 5 | Kartais (5–29%) | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Kartais (5–29%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Kartais (5–29%) | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Kartais (5–29%) | 1 ligoje |
| MED27mediator complex subunit 27 | Kartais (5–29%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Kartais (5–29%) | 1 ligoje |
| MSX2msh homeobox 2 | Kartais (5–29%) | 1 ligoje |
| NXNnucleoredoxin | Kartais (5–29%) | 1 ligoje |
| PAX1paired box 1 | Kartais (5–29%) | 1 ligoje |
| PGM1phosphoglucomutase 1 | Kartais (5–29%) | 1 ligoje |
| POLRMTRNA polymerase mitochondrial | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 2 ligose |
| PRMT7protein arginine methyltransferase 7 | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 1 ligoje |
| TELO2telomere maintenance 2 | Kartais (5–29%) | 1 ligoje |
| TMEM163transmembrane protein 163 | Kartais (5–29%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| UNC45Aunc-45 myosin chaperone A | Kartais (5–29%) | 1 ligoje |
| WNT5AWnt family member 5A | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Retai (1–4 %) | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Retai (1–4 %) | 2 ligose |
| ALPLalkaline phosphatase, biomineralization associated | Neužfiksuota | 1 ligoje |
| C1Rcomplement C1r | Neužfiksuota | 1 ligoje |
| IGF2insulin like growth factor 2 | Neužfiksuota | 1 ligoje |
| KIFBPkinesin family binding protein | 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.
Platesni požymiai
Iš kur tai žinoma
- 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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