Træk
Blue outer white part of eyeball
Klinisk navn: Blue sclerae
An abnormal bluish coloration of the sclera.
Resumé
- Også kaldet
- Whites of eyes are a bluish-gray color, Blue sclera, Bluish sclerae, Gray sclerae, Grey sclerae, Whites of eyes are a bluish-gray colour
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test111 gener knyttet til Blue outer white part of eyeball
Ændringer i disse gener forårsager sjældne tilstande, hvor Blue outer white part of eyeball 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 |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Altid | I 2 tilstande |
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Altid | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Altid | I 2 tilstande |
| COL1A1collagen type I alpha 1 chain | Altid | I 6 tilstande |
| COL1A2collagen type I alpha 2 chain | Altid | I 5 tilstande |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Altid | I 1 tilstand |
| CRTAPcartilage associated protein | Altid | I 2 tilstande |
| DNM1Ldynamin 1L | Altid | I 1 tilstand |
| DSEdermatan sulfate epimerase | Altid | I 2 tilstande |
| EXOSC1exosome component 1 | Altid | I 1 tilstand |
| FKBP10FKBP prolyl isomerase 10 | Altid | I 1 tilstand |
| GNB2G protein subunit beta 2 | Altid | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Altid | I 2 tilstande |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Altid | I 2 tilstande |
| PPIBpeptidylprolyl isomerase B | Altid | I 1 tilstand |
| PRDM5PR/SET domain 5 | Altid | I 2 tilstande |
| PUS3pseudouridine synthase 3 | Altid | I 2 tilstande |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altid | I 2 tilstande |
| RBSNrabenosyn, RAB effector | Altid | I 1 tilstand |
| SERPINF1serpin family F member 1 | Altid | I 1 tilstand |
| SERPINH1serpin family H member 1 | Altid | I 1 tilstand |
| TENT5Aterminal nucleotidyltransferase 5A | Altid | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Altid | I 2 tilstande |
| WWOXWW domain containing oxidoreductase | Altid | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NFIXnuclear factor I X | Meget ofte (80–99 %) | I 2 tilstande |
| P4HBprolyl 4-hydroxylase subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| PHLDB1pleckstrin homology like domain family B member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Meget ofte (80–99 %) | I 2 tilstande |
| SLC39A13solute carrier family 39 member 13 | Meget ofte (80–99 %) | I 2 tilstande |
| ZNF469zinc finger protein 469 | Meget ofte (80–99 %) | I 2 tilstande |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ofte (30–79 %) | I 3 tilstande |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 1 tilstand |
| BMP1bone morphogenetic protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ofte (30–79 %) | I 1 tilstand |
Vis 71 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| COG4component of oligomeric golgi complex 4 | Ofte (30–79 %) | I 1 tilstand |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| CTSKcathepsin K | Ofte (30–79 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 2 tilstande |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 2 tilstande |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 2 tilstande |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 2 tilstande |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 3 tilstande |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstande |
| MESDmesoderm development LRP chaperone | Ofte (30–79 %) | I 1 tilstand |
| MVKmevalonate kinase | Ofte (30–79 %) | I 2 tilstande |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| PRKG2protein kinase cGMP-dependent 2 | Ofte (30–79 %) | I 1 tilstand |
| RPS23ribosomal protein S23 | Ofte (30–79 %) | I 1 tilstand |
| RYR3ryanodine receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 2 tilstande |
| TGFB2transforming growth factor beta 2 | Ofte (30–79 %) | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| TGFBR2transforming growth factor beta receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| TMEM38Btransmembrane protein 38B | Ofte (30–79 %) | I 1 tilstand |
| TRMT5tRNA methyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| WASF1WASP family member 1 | Ofte (30–79 %) | I 1 tilstand |
| WNT1Wnt family member 1 | Ofte (30–79 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| ABCC6ATP binding cassette subfamily C member 6 | Nogle gange (5–29 %) | I 2 tilstande |
| CA2carbonic anhydrase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| COL12A1collagen type XII alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL5A1collagen type V alpha 1 chain | Nogle gange (5–29 %) | I 2 tilstande |
| CYB5Acytochrome b5 type A | Nogle gange (5–29 %) | I 1 tilstand |
| CYB5R3cytochrome b5 reductase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| FKBP14FKBP prolyl isomerase 14 | Nogle gange (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GDF11growth differentiation factor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GHRgrowth hormone receptor | Nogle gange (5–29 %) | I 2 tilstande |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| IFITM5interferon induced transmembrane protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED27mediator complex subunit 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MSX2msh homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NXNnucleoredoxin | Nogle gange (5–29 %) | I 1 tilstand |
| PAX1paired box 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 2 tilstande |
| PRMT7protein arginine methyltransferase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM163transmembrane protein 163 | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Nogle gange (5–29 %) | I 1 tilstand |
| UNC45Aunc-45 myosin chaperone A | Nogle gange (5–29 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Sjældent (1–4%) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Sjældent (1–4%) | I 2 tilstande |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registreret | I 1 tilstand |
| C1Rcomplement C1r | Ikke registreret | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ikke registreret | I 1 tilstand |
| KIFBPkinesin family binding protein | 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