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Merkmal
Blue outer white part of eyeball
Klinische Bezeichnung: Blue sclerae
An abnormal bluish coloration of the sclera.
Zusammenfassung
- Auch genannt
- Whites of eyes are a bluish-gray color, Blue sclera, Bluish sclerae, Gray sclerae, Grey sclerae, Whites of eyes are a bluish-gray colour
- Körpersystem
- Abnormality of the eye
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Diese Seite als Daten
Hängen Sie .json an die Adresse der Seite an oder fordern Sie application/json an, um sie als JSON zu lesen.
library(jsonlite)
url <- "https://dantelabs.com/traits/blue-sclerae.json"
page <- fromJSON(url)
page$trait$nameBlue outer white part of eyeballHP:0000592
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Lesen Sie die Gene aus, die mit Blue outer white part of eyeball zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
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Meinen Genome Test bestellen66 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Osteogenesis ImperfectaReads 21 of these genesATP6V0A2COL1A1COL1A2CREB3L1CRTAPFKBP10About this report →
- Ehlers-Danlos SyndromeReads 15 of these genesADAMTS2CHST14COL1A1COL1A2DSEPLOD1About this report →
- Loeys-Dietz SyndromeReads 6 of these genesTGFB3SMAD2SMAD3TGFB2TGFBR1TGFBR2About this report →
- Marfan Like SyndromesReads 7 of these genesTGFB3FBN1SMAD2SMAD3TGFB2TGFBR1About this report →
Show 62 more reports
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Hereditary Arterial CalcificationReads 2 of these genesABCC6ENPP1About this report →
- Aortic AneurysmReads 4 of these genesFBN1TGFB2TGFBR1TGFBR2About this report →
- Caffey DiseaseReads 1 of these genesCOL1A1About this report →
- Desbuquois Dysplasia 1Reads 1 of these genesCANT1About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma)Reads 1 of these genesTGFBR1About this report →
- HypophosphatasiaReads 1 of these genesALPLAbout this report →
- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
- KDM1A-Related Neurodevelopmental DisorderReads 1 of these genesKDM1AAbout this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- MED27-Related Neurodevelopmental DisorderReads 1 of these genesMED27About this report →
- OpsismodysplasiaReads 1 of these genesINPPL1About this report →
- Otofaciocervical Syndrome Type 2 (PAX1)Reads 1 of these genesPAX1About this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- PPP1R21-Related Neurodevelopmental DisorderReads 1 of these genesPPP1R21About this report →
- Roberts SyndromeReads 1 of these genesESCO2About this report →
- Saul-Wilson SyndromeReads 1 of these genesCOG4About this report →
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsReads 1 of these genesCHST3About this report →
- Wiedemann-Steiner SyndromeReads 1 of these genesKMT2AAbout this report →
- You-Hoover-Fong Syndrome (TELO2)Reads 1 of these genesTELO2About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 2 of these genesCYB5ACYB5R3About this report →
- Congenital Disorders of GlycosylationReads 8 of these genesATP6V0A2CHST14DSEB3GAT3B3GALT6COG4About this report →
- OsteopetrosisReads 3 of these genesCTSKCA2LRP5About this report →
- Cutis LaxaReads 3 of these genesATP6V0A2PYCR1EMILIN1About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Enlarged Parietal Foramina (MSX2)Reads 1 of these genesMSX2About this report →
- Pseudoxanthoma ElasticumReads 1 of these genesABCC6About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 2 of these genesSLC26A2XYLT1About this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesKIFBPAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRMRPAbout this report →
- Monogenic Early-Onset OsteoporosisReads 1 of these genesWNT1About this report →
- Achondrogenesis panelReads 1 of these genesSLC26A2About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNFIXAbout this report →
- Polycystic Liver Disease (1 and 2)Reads 1 of these genesLRP5About this report →
- PorokeratosisReads 1 of these genesMVKAbout this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesLRP5About this report →
- Syndromic CraniosynostosisReads 2 of these genesMEGF8MSX2About this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 1 of these genesGHRAbout this report →
- Hereditary Periodic Fever SyndromesReads 1 of these genesMVKAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesTMEM163POLR3AAbout this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 1 of these genesENPP1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesIGF2About this report →
- Hereditary Optic NeuropathyReads 1 of these genesDNM1LAbout this report →
- Inherited Neurodegenerative DisordersReads 5 of these genesDNM1LWWOXEMILIN1TMEM163POLR3AAbout this report →
- Other Inherited LeukodystrophiesReads 2 of these genesTMEM163POLR3AAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesRNU4-2About this report →
- VitreoretinopathyReads 1 of these genesLRP5About this report →
- Spinal Muscular AtrophyReads 1 of these genesEMILIN1About this report →
- Congenital Muscular DystrophiesReads 1 of these genesCOL12A1About this report →
- Primary Mitochondrial DiseaseReads 2 of these genesTRMT5POLRMTAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesMBTPS2About this report →
- Dilated CardiomyopathyReads 1 of these genesPGM1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesWWOXAbout this report →
- Intellectual DisabilityReads 2 of these genesPRMT7CTCFAbout this report →
- Lysosomal Storage DiseaseReads 1 of these genesCTSKAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesIGF2About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesEMILIN1About this report →
- Epilepsy (Full Panel)Reads 1 of these genesWWOXAbout this report →
- Other Inborn Errors of ImmunityReads 1 of these genesRMRPAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesEMILIN1About this report →
Lesen Sie die Gene aus, die mit Blue outer white part of eyeball zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen
Meinen Genome Test bestellen111 Gene mit Blue outer white part of eyeball verknüpft
Veränderungen in diesen Genen verursachen seltene Erkrankungen, bei denen Blue outer white part of eyeball auftritt. Die meisten Menschen mit diesem Merkmal haben keine dieser Erkrankungen, und ein Gen auf dieser Liste sagt nichts über das eigene Genom einer Person aus.
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Immer | In 2 Erkrankungen |
| AMOTL1angiomotin like 1 | Immer | In 1 Erkrankung |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Immer | In 1 Erkrankung |
| CHST14carbohydrate sulfotransferase 14 | Immer | In 2 Erkrankungen |
| COL1A1collagen type I alpha 1 chain | Immer | In 6 Erkrankungen |
| COL1A2collagen type I alpha 2 chain | Immer | In 5 Erkrankungen |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Immer | In 1 Erkrankung |
| CRTAPcartilage associated protein | Immer | In 2 Erkrankungen |
| DNM1Ldynamin 1L | Immer | In 1 Erkrankung |
| DSEdermatan sulfate epimerase | Immer | In 2 Erkrankungen |
| EXOSC1exosome component 1 | Immer | In 1 Erkrankung |
| FKBP10FKBP prolyl isomerase 10 | Immer | In 1 Erkrankung |
| GNB2G protein subunit beta 2 | Immer | In 1 Erkrankung |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Immer | In 2 Erkrankungen |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Immer | In 2 Erkrankungen |
| PPIBpeptidylprolyl isomerase B | Immer | In 1 Erkrankung |
| PRDM5PR/SET domain 5 | Immer | In 2 Erkrankungen |
| PUS3pseudouridine synthase 3 | Immer | In 2 Erkrankungen |
| PYCR1pyrroline-5-carboxylate reductase 1 | Immer | In 2 Erkrankungen |
| RBSNrabenosyn, RAB effector | Immer | In 1 Erkrankung |
| SERPINF1serpin family F member 1 | Immer | In 1 Erkrankung |
| SERPINH1serpin family H member 1 | Immer | In 1 Erkrankung |
| TENT5Aterminal nucleotidyltransferase 5A | Immer | In 1 Erkrankung |
| TGFB3transforming growth factor beta 3 | Immer | In 2 Erkrankungen |
| WWOXWW domain containing oxidoreductase | Immer | In 1 Erkrankung |
| ADAMTSL2ADAMTS like 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CHST3carbohydrate sulfotransferase 3 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NFIXnuclear factor I X | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| P4HBprolyl 4-hydroxylase subunit beta | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PHLDB1pleckstrin homology like domain family B member 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SEC24DSEC24 homolog D, COPII component | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| SLC39A13solute carrier family 39 member 13 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| ZNF469zinc finger protein 469 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| B3GALT6beta-1,3-galactosyltransferase 6 | Häufig (30–79 %) | In 3 Erkrankungen |
| B4GALT7beta-1,4-galactosyltransferase 7 | Häufig (30–79 %) | In 1 Erkrankung |
| BCL11ABCL11 transcription factor A | Häufig (30–79 %) | In 1 Erkrankung |
| BMP1bone morphogenetic protein 1 | Häufig (30–79 %) | In 1 Erkrankung |
| CANT1calcium activated nucleotidase 1 | Häufig (30–79 %) | In 1 Erkrankung |
71 weitere Gene anzeigen
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| COG4component of oligomeric golgi complex 4 | Häufig (30–79 %) | In 1 Erkrankung |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| CTSKcathepsin K | Häufig (30–79 %) | In 1 Erkrankung |
| DVL1dishevelled segment polarity protein 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| DVL3dishevelled segment polarity protein 3 | Häufig (30–79 %) | In 2 Erkrankungen |
| EMILIN1elastin microfibril interfacer 1 | Häufig (30–79 %) | In 1 Erkrankung |
| FBN1fibrillin 1 | Häufig (30–79 %) | In 1 Erkrankung |
| IPO8importin 8 | Häufig (30–79 %) | In 2 Erkrankungen |
| KDM1Alysine demethylase 1A | Häufig (30–79 %) | In 2 Erkrankungen |
| KDM6Alysine demethylase 6A | Häufig (30–79 %) | In 3 Erkrankungen |
| KMT2Alysine methyltransferase 2A | Häufig (30–79 %) | In 1 Erkrankung |
| KMT2Dlysine methyltransferase 2D | Häufig (30–79 %) | In 2 Erkrankungen |
| MESDmesoderm development LRP chaperone | Häufig (30–79 %) | In 1 Erkrankung |
| MVKmevalonate kinase | Häufig (30–79 %) | In 2 Erkrankungen |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Häufig (30–79 %) | In 1 Erkrankung |
| PRKG2protein kinase cGMP-dependent 2 | Häufig (30–79 %) | In 1 Erkrankung |
| RPS23ribosomal protein S23 | Häufig (30–79 %) | In 1 Erkrankung |
| RYR3ryanodine receptor 3 | Häufig (30–79 %) | In 1 Erkrankung |
| SLC26A2solute carrier family 26 member 2 | Häufig (30–79 %) | In 1 Erkrankung |
| SMAD2SMAD family member 2 | Häufig (30–79 %) | In 1 Erkrankung |
| SMAD3SMAD family member 3 | Häufig (30–79 %) | In 2 Erkrankungen |
| TGFB2transforming growth factor beta 2 | Häufig (30–79 %) | In 1 Erkrankung |
| TGFBR1transforming growth factor beta receptor 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| TGFBR2transforming growth factor beta receptor 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| TMEM38Btransmembrane protein 38B | Häufig (30–79 %) | In 1 Erkrankung |
| TRMT5tRNA methyltransferase 5 | Häufig (30–79 %) | In 1 Erkrankung |
| WASF1WASP family member 1 | Häufig (30–79 %) | In 1 Erkrankung |
| WNT1Wnt family member 1 | Häufig (30–79 %) | In 1 Erkrankung |
| XYLT1xylosyltransferase 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| ABCC6ATP binding cassette subfamily C member 6 | Manchmal (5–29 %) | In 2 Erkrankungen |
| CA2carbonic anhydrase 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| CHSY1chondroitin sulfate synthase 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| COL12A1collagen type XII alpha 1 chain | Manchmal (5–29 %) | In 1 Erkrankung |
| COL5A1collagen type V alpha 1 chain | Manchmal (5–29 %) | In 2 Erkrankungen |
| CYB5Acytochrome b5 type A | Manchmal (5–29 %) | In 1 Erkrankung |
| CYB5R3cytochrome b5 reductase 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Manchmal (5–29 %) | In 2 Erkrankungen |
| FKBP14FKBP prolyl isomerase 14 | Manchmal (5–29 %) | In 1 Erkrankung |
| FZD2frizzled class receptor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| GDF11growth differentiation factor 11 | Manchmal (5–29 %) | In 1 Erkrankung |
| GHRgrowth hormone receptor | Manchmal (5–29 %) | In 2 Erkrankungen |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| IFITM5interferon induced transmembrane protein 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| INPPL1inositol polyphosphate phosphatase like 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| MED27mediator complex subunit 27 | Manchmal (5–29 %) | In 1 Erkrankung |
| MEGF8multiple EGF like domains 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| MSX2msh homeobox 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| NXNnucleoredoxin | Manchmal (5–29 %) | In 1 Erkrankung |
| PAX1paired box 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| PGM1phosphoglucomutase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| POLRMTRNA polymerase mitochondrial | Manchmal (5–29 %) | In 1 Erkrankung |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Manchmal (5–29 %) | In 2 Erkrankungen |
| PRMT7protein arginine methyltransferase 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| RNU4-2RNA, U4 small nuclear 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| ROR2ROR family WNT receptor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| SONSON DNA and RNA binding protein | Manchmal (5–29 %) | In 1 Erkrankung |
| TELO2telomere maintenance 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| TMEM163transmembrane protein 163 | Manchmal (5–29 %) | In 1 Erkrankung |
| TRMT10AtRNA methyltransferase 10A | Manchmal (5–29 %) | In 1 Erkrankung |
| UNC45Aunc-45 myosin chaperone A | Manchmal (5–29 %) | In 1 Erkrankung |
| WNT5AWnt family member 5A | Manchmal (5–29 %) | In 1 Erkrankung |
| CTCFCCCTC-binding factor | Selten (1–4 %) | In 1 Erkrankung |
| LRP5LDL receptor related protein 5 | Selten (1–4 %) | In 1 Erkrankung |
| POLR3ARNA polymerase III subunit A | Selten (1–4 %) | In 2 Erkrankungen |
| ALPLalkaline phosphatase, biomineralization associated | Nicht erfasst | In 1 Erkrankung |
| C1Rcomplement C1r | Nicht erfasst | In 1 Erkrankung |
| IGF2insulin like growth factor 2 | Nicht erfasst | In 1 Erkrankung |
| KIFBPkinesin family binding protein | Nicht erfasst | In 1 Erkrankung |
Wie häufig dieses Merkmal bei Menschen mit einer der Erkrankungen auftritt, die mit dem Gen in Verbindung stehen, und zwar der höchste Wert unter ihnen, so wie ihn die Human Phenotype Ontology erfasst. Diese Seiten beschreiben Merkmale und die dazugehörige Forschung; sie stellen keine Diagnose dar. Fragen zu Symptomen richten Sie bitte an Ihre Ärztin, Ihren Arzt oder eine genetische Beratung.
Übergeordnete Merkmale
Woher diese Angaben stammen
- Die Human Phenotype Ontology, Version 2026-09-01: das Merkmal, seine Bezeichnungen, seine Definition und die damit verknüpften Gene. Weitere Informationen finden Sie unter hpo.jax.org.
- Datenstand 2026.10.19-9814e911.
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