Požymis
Peters anomaly
A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.
Santrauka
- Kūno sistema
- Abnormality of the eye
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Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/peters-anomaly.json"
page <- fromJSON(url)
page$trait$nameVienu tyrimu sužinokite genus, susijusius su Peters anomaly, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test20 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.
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 5 of these genesFOXC1FOXE3PAX6PITX2PITX3About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Congenital Muscular DystrophiesReads 6 of these genesPOMT2CRPPAFKRPFKTNLARGE1POMT1About this report →
- CDH2-Related ACOGSReads 1 of these genesCDH2About this report →
Show 16 more reports
- Neurooculocardiogenitourinary Syndrome (WDR37)Reads 1 of these genesWDR37About this report →
- GlaucomaReads 2 of these genesCYP1B1FOXC1About this report →
- PRR12-Related Neuroocular SyndromeReads 1 of these genesPRR12About this report →
- Congenital Disorders of GlycosylationReads 6 of these genesB3GLCTPOMT2CRPPAFKRPFKTNPOMT1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesCOX7BHCCSNDUFB11About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesREREAbout this report →
- Hereditary Congenital & Juvenile CataractReads 2 of these genesMAFPITX3About this report →
- Limb-Girdle Muscular DystrophyReads 2 of these genesFKRPFKTNAbout this report →
- Kidney CancerReads 1 of these genesPAX6About this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesCDH2About this report →
- Urinary and Renal System TumourReads 1 of these genesPAX6About this report →
- Aortic AneurysmReads 1 of these genesFOXE3About this report →
- Diabetes MellitusReads 1 of these genesPAX6About this report →
- Primary Mitochondrial DiseaseReads 2 of these genesDNA2NDUFB11About this report →
- Dilated CardiomyopathyReads 1 of these genesFKTNAbout this report →
- Primary Ciliary DyskinesiaReads 1 of these genesCENPFAbout this report →
Vienu tyrimu sužinokite genus, susijusius su Peters anomaly, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test29 genų susiję su Peters anomaly
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Peters anomaly. 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 |
|---|---|---|
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Visada | 1 ligoje |
| EXOC3L2exocyst complex component 3 like 2 | Visada | 1 ligoje |
| FOXC1forkhead box C1 | Visada | 3 ligose |
| FOXE3forkhead box E3 | Visada | 2 ligose |
| PAX6paired box 6 | Visada | 4 ligose |
| PITX2paired like homeodomain 2 | Visada | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Labai dažnai (80–99%) | 2 ligose |
| KDM6Alysine demethylase 6A | Dažnai (30–79%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Dažnai (30–79%) | 1 ligoje |
| NCAPG2non-SMC condensin II complex subunit G2 | Dažnai (30–79%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Dažnai (30–79%) | 2 ligose |
| PRR12proline rich 12 | Dažnai (30–79%) | 1 ligoje |
| TRIM44TRIM family member 44 | Dažnai (30–79%) | 1 ligoje |
| CACHD1cache domain containing 1 | Kartais (5–29%) | 1 ligoje |
| CDH2cadherin 2 | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Kartais (5–29%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Kartais (5–29%) | 1 ligoje |
| HCCSholocytochrome c synthase | Kartais (5–29%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Kartais (5–29%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 2 ligose |
| WDR37WD repeat domain 37 | Kartais (5–29%) | 1 ligoje |
| CENPFcentromere protein F | Neužfiksuota | 1 ligoje |
| FKRPfukutin related protein | Neužfiksuota | 1 ligoje |
| FKTNfukutin | Neužfiksuota | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Neužfiksuota | 1 ligoje |
| PITX3paired like homeodomain 3 | Neužfiksuota | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | 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 2026.10.21-777c9289.
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