Požymis
Duane anomaly
A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction
Santrauka
- Taip pat vadinama
- Limited eye motility from Duane anomaly, Limited eye movement from Duane anomaly
- Kūno sistema
- Abnormality of the eye
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/duane-anomaly.json"
page <- fromJSON(url)
page$trait$nameVienu tyrimu sužinokite genus, susijusius su Duane anomaly, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test21 condition report reads 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.
- Congenital Cranial Dysinnervation DisordersReads 3 of these genesCHN1MAFBCOL25A1About this report →
- ACCES Syndrome (UBA2)Reads 1 of these genesUBA2About this report →
- CEBALID Syndrome (MN1)Reads 1 of these genesMN1About this report →
- DCC-Related Mirror Movements and Agenesis of the Corpus CallosumReads 1 of these genesDCCAbout this report →
Show 17 more reports
- Horizontal Gaze Palsy with Progressive ScoliosisReads 1 of these genesROBO3About this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- Townes-Brocks SyndromeReads 1 of these genesSALL1About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Hereditary Optic NeuropathyReads 2 of these genesDNM1LOPA1About this report →
- Familial Atrial FibrillationReads 1 of these genesGJA5About this report →
- Joubert Syndrome And Related DisordersReads 3 of these genesCEP120CSPP1KIAA0586About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesCSPP1KIAA0586About this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesARXAbout this report →
- Inherited Neurodegenerative DisordersReads 4 of these genesCSPP1KIAA0586DNM1LOPA1About this report →
- Intellectual DisabilityReads 3 of these genesFBXO11MED13HOXA1About this report →
- Osteogenesis ImperfectaReads 1 of these genesPPIBAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesNSMFAbout this report →
- Leigh SyndromeReads 1 of these genesOPA1About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesOPA1About this report →
- Epilepsy (Full Panel)Reads 1 of these genesARXAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesOPA1About this report →
Vienu tyrimu sužinokite genus, susijusius su Duane anomaly, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test29 genų susiję su Duane anomaly
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Duane 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 |
|---|---|---|
| CCNQcyclin Q | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Visada | 1 ligoje |
| POLR1ARNA polymerase I subunit A | Visada | 1 ligoje |
| UBA2ubiquitin like modifier activating enzyme 2 | Visada | 1 ligoje |
| CHN1chimerin 1 | Labai dažnai (80–99%) | 2 ligose |
| MAFBMAF bZIP transcription factor B | Labai dažnai (80–99%) | 2 ligose |
| SALL4spalt like transcription factor 4 | Labai dažnai (80–99%) | 2 ligose |
| COL25A1collagen type XXV alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| DCCDCC netrin 1 receptor | Dažnai (30–79%) | 1 ligoje |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Dažnai (30–79%) | 1 ligoje |
| ROBO3roundabout guidance receptor 3 | Dažnai (30–79%) | 1 ligoje |
| ACKR3atypical chemokine receptor 3 | Kartais (5–29%) | 1 ligoje |
| CEP120centrosomal protein 120 | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Kartais (5–29%) | 1 ligoje |
| KIAA0586KIAA0586 | Kartais (5–29%) | 1 ligoje |
| MED13mediator complex subunit 13 | Kartais (5–29%) | 1 ligoje |
| SALL1spalt like transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| DNM1Ldynamin 1L | Retai (1–4 %) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Retai (1–4 %) | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Retai (1–4 %) | 1 ligoje |
| ARXaristaless related homeobox | Neužfiksuota | 1 ligoje |
| HOXA1homeobox A1 | Neužfiksuota | 1 ligoje |
| MN1MN1 proto-oncogene, transcriptional regulator | Neužfiksuota | 1 ligoje |
| ZMIZ1zinc finger MIZ-type containing 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 2026.10.18-8b139e39.
From traits to your genome
Read the genes behind these traits in your own DNA.
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