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Tunnus
Blue outer white part of eyeball
Kliiniline nimetus: Blue sclerae
An abnormal bluish coloration of the sclera.
Kokkuvõte
- Teised nimetused
- Whites of eyes are a bluish-gray color, Blue sclera, Bluish sclerae, Gray sclerae, Grey sclerae, Whites of eyes are a bluish-gray colour
- Kehasüsteem
- 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.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test111 geeni on seotud tunnusega Blue outer white part of eyeball
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Blue outer white part of eyeball. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Alati | Esineb 2 haiguses |
| AMOTL1angiomotin like 1 | Alati | Esineb 1 haiguses |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Alati | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Alati | Esineb 2 haiguses |
| COL1A1collagen type I alpha 1 chain | Alati | Esineb 6 haiguses |
| COL1A2collagen type I alpha 2 chain | Alati | Esineb 5 haiguses |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Alati | Esineb 1 haiguses |
| CRTAPcartilage associated protein | Alati | Esineb 2 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Alati | Esineb 2 haiguses |
| EXOSC1exosome component 1 | Alati | Esineb 1 haiguses |
| FKBP10FKBP prolyl isomerase 10 | Alati | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Alati | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Alati | Esineb 2 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Alati | Esineb 2 haiguses |
| PPIBpeptidylprolyl isomerase B | Alati | Esineb 1 haiguses |
| PRDM5PR/SET domain 5 | Alati | Esineb 2 haiguses |
| PUS3pseudouridine synthase 3 | Alati | Esineb 2 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alati | Esineb 2 haiguses |
| RBSNrabenosyn, RAB effector | Alati | Esineb 1 haiguses |
| SERPINF1serpin family F member 1 | Alati | Esineb 1 haiguses |
| SERPINH1serpin family H member 1 | Alati | Esineb 1 haiguses |
| TENT5Aterminal nucleotidyltransferase 5A | Alati | Esineb 1 haiguses |
| TGFB3transforming growth factor beta 3 | Alati | Esineb 2 haiguses |
| WWOXWW domain containing oxidoreductase | Alati | Esineb 1 haiguses |
| ADAMTSL2ADAMTS like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Väga sageli (80–99%) | Esineb 2 haiguses |
| P4HBprolyl 4-hydroxylase subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PHLDB1pleckstrin homology like domain family B member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEC24DSEC24 homolog D, COPII component | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC39A13solute carrier family 39 member 13 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZNF469zinc finger protein 469 | Väga sageli (80–99%) | Esineb 2 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Sageli (30–79%) | Esineb 3 haiguses |
| B4GALT7beta-1,4-galactosyltransferase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| BCL11ABCL11 transcription factor A | Sageli (30–79%) | Esineb 1 haiguses |
| BMP1bone morphogenetic protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CANT1calcium activated nucleotidase 1 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 71 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| COG4component of oligomeric golgi complex 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CTSKcathepsin K | Sageli (30–79%) | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DVL3dishevelled segment polarity protein 3 | Sageli (30–79%) | Esineb 2 haiguses |
| EMILIN1elastin microfibril interfacer 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IPO8importin 8 | Sageli (30–79%) | Esineb 2 haiguses |
| KDM1Alysine demethylase 1A | Sageli (30–79%) | Esineb 2 haiguses |
| KDM6Alysine demethylase 6A | Sageli (30–79%) | Esineb 3 haiguses |
| KMT2Alysine methyltransferase 2A | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Sageli (30–79%) | Esineb 2 haiguses |
| MESDmesoderm development LRP chaperone | Sageli (30–79%) | Esineb 1 haiguses |
| MVKmevalonate kinase | Sageli (30–79%) | Esineb 2 haiguses |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Sageli (30–79%) | Esineb 1 haiguses |
| PRKG2protein kinase cGMP-dependent 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS23ribosomal protein S23 | Sageli (30–79%) | Esineb 1 haiguses |
| RYR3ryanodine receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMAD2SMAD family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMAD3SMAD family member 3 | Sageli (30–79%) | Esineb 2 haiguses |
| TGFB2transforming growth factor beta 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TGFBR1transforming growth factor beta receptor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TMEM38Btransmembrane protein 38B | Sageli (30–79%) | Esineb 1 haiguses |
| TRMT5tRNA methyltransferase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| WASF1WASP family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| WNT1Wnt family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| XYLT1xylosyltransferase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ABCC6ATP binding cassette subfamily C member 6 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CA2carbonic anhydrase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHSY1chondroitin sulfate synthase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| COL12A1collagen type XII alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL5A1collagen type V alpha 1 chain | Mõnikord (5–29%) | Esineb 2 haiguses |
| CYB5Acytochrome b5 type A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYB5R3cytochrome b5 reductase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FKBP14FKBP prolyl isomerase 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZD2frizzled class receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GDF11growth differentiation factor 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GHRgrowth hormone receptor | Mõnikord (5–29%) | Esineb 2 haiguses |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFITM5interferon induced transmembrane protein 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED27mediator complex subunit 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEGF8multiple EGF like domains 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSX2msh homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NXNnucleoredoxin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAX1paired box 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGM1phosphoglucomutase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLRMTRNA polymerase mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Mõnikord (5–29%) | Esineb 2 haiguses |
| PRMT7protein arginine methyltransferase 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TELO2telomere maintenance 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM163transmembrane protein 163 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMT10AtRNA methyltransferase 10A | Mõnikord (5–29%) | Esineb 1 haiguses |
| UNC45Aunc-45 myosin chaperone A | Mõnikord (5–29%) | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Harva (1–4%) | Esineb 1 haiguses |
| LRP5LDL receptor related protein 5 | Harva (1–4%) | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Harva (1–4%) | Esineb 2 haiguses |
| ALPLalkaline phosphatase, biomineralization associated | Pole registreeritud | Esineb 1 haiguses |
| C1Rcomplement C1r | Pole registreeritud | Esineb 1 haiguses |
| IGF2insulin like growth factor 2 | Pole registreeritud | Esineb 1 haiguses |
| KIFBPkinesin family binding protein | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast