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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Drooping of both upper eyelids
Klinikinis pavadinimas: Bilateral ptosis
Santrauka
- Kūno sistema
- Abnormality of the eye
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
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/bilateral-ptosis.json"
page <- fromJSON(url)
page$trait$nameDrooping of both upper eyelidsHP:0001488
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Drooping of both upper eyelids, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test73 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.
- Congenital Cranial Dysinnervation DisordersReads 4 of these genesTUBB3TUBA1AKIF21APHOX2AAbout this report →
- Maturity-Onset Diabetes Of The YoungReads 5 of these genesABCC8GCKINSKCNJ11PDX1About this report →
- DOORS SyndromeReads 2 of these genesATP6V1B2TBC1D24About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
Show 69 more reports
- Neonatal Diabetes MellitusReads 5 of these genesABCC8GCKINSKCNJ11PDX1About this report →
- Diabetes MellitusReads 6 of these genesPAX6ABCC8GCKINSKCNJ11PDX1About this report →
- TubulinopathiesReads 2 of these genesTUBB3TUBA1AAbout this report →
- ACBD5 DeficiencyReads 1 of these genesACBD5About this report →
- Bailey-Bloch Congenital MyopathyReads 1 of these genesSTAC3About this report →
- CHRNG-Related Multiple Pterygium SyndromeReads 1 of these genesCHRNGAbout this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- KDM1A-Related Neurodevelopmental DisorderReads 1 of these genesKDM1AAbout this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout this report →
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- PDX1-Related Pancreatic AgenesisReads 1 of these genesPDX1About this report →
- Phenylketonuria (PKU)Reads 1 of these genesPAHAbout this report →
- PLEC-Related Epidermolysis Bullosa and Muscular DystrophyReads 1 of these genesPLECAbout this report →
- SCN4A-Related Congenital MyopathyReads 1 of these genesSCN4AAbout this report →
- HyperinsulinismReads 3 of these genesABCC8GCKKCNJ11About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 3 of these genesTUBB3TUBA1ATUBB2BAbout this report →
- Congenital Myasthenic SyndromeReads 4 of these genesSCN4ACOL13A1COLQPLECAbout this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Hereditary Gingival FibromatosisReads 1 of these genesSOS1About this report →
- Hereditary Wilms TumourReads 1 of these genesWT1About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 1 of these genesCOL2A1About this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 1 of these genesSTAT3About this report →
- Primary Mitochondrial DiseaseReads 8 of these genesGUK1POLGDGUOKOPA1RNASEH1RRM2BAbout this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- Hereditary Optic NeuropathyReads 2 of these genesDNM1LOPA1About this report →
- Achondrogenesis panelReads 1 of these genesCOL2A1About this report →
- Epidermolysis BullosaReads 2 of these genesDSTPLECAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Autoimmune DiseaseReads 2 of these genesCHRNGSTAT3About this report →
- Noonan SyndromeReads 2 of these genesNRASSOS1About this report →
- Cornelia de Lange SyndromeReads 1 of these genesRAD21About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Hyper-IgE SyndromeReads 1 of these genesSTAT3About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesPAX6About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesCOL2A1About this report →
- Kidney CancerReads 1 of these genesPAX6About this report →
- Rare Hereditary Peripheral NeuropathiesReads 5 of these genesDSTPOLGGSNOPA1RRM2BAbout this report →
- Intellectual DisabilityReads 5 of these genesAUTS2CERT1PACS1ADNPNAA10About this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 1 of these genesDBHAbout this report →
- Epilepsy (Full Panel)Reads 4 of these genesPIGAATP6V1B2TBC1D24FLNAAbout this report →
- Hereditary AmyloidosisReads 1 of these genesGSNAbout this report →
- Urinary and Renal System TumourReads 1 of these genesPAX6About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Hypertrophic CardiomyopathyReads 2 of these genesNRASSOS1About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesWT1About this report →
- Distal MyopathiesReads 1 of these genesLRP12About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesGSNAbout this report →
- Congenital MyopathiesReads 1 of these genesRYR1About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesAEBP1About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesDSTAbout this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesMAFAbout this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesTUBA1AAbout this report →
- Syndromic CraniosynostosisReads 1 of these genesTWIST1About this report →
- VitreoretinopathyReads 1 of these genesCOL2A1About this report →
- Nephrotic SyndromeReads 1 of these genesLAMB2About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesNHEJ1About this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesPLECAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesSCN4AAbout this report →
- Inherited Neurodegenerative DisordersReads 3 of these genesDNM1LPOLGOPA1About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesNHEJ1STAT3About this report →
- Lysosomal Storage DiseaseReads 1 of these genesIDUAAbout this report →
- Leigh SyndromeReads 1 of these genesOPA1About this report →
- Hearing Loss and DeafnessReads 1 of these genesTBC1D24About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesPIGAAbout this report →
Vienu tyrimu sužinokite genus, susijusius su Drooping of both upper eyelids, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test74 genų susiję su Drooping of both upper eyelids
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Drooping of both upper eyelids. 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 |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Visada | 1 ligoje |
| DNM1Ldynamin 1L | Visada | 2 ligose |
| DSTdystonin | Visada | 1 ligoje |
| GUK1guanylate kinase 1 | Visada | 1 ligoje |
| IDUAalpha-L-iduronidase | Visada | 1 ligoje |
| ISCUiron-sulfur cluster assembly enzyme | Visada | 1 ligoje |
| JPH1junctophilin 1 | Visada | 1 ligoje |
| KDM6Alysine demethylase 6A | Visada | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Visada | 1 ligoje |
| LRP12LDL receptor related protein 12 | Visada | 1 ligoje |
| NHEJ1non-homologous end joining factor 1 | Visada | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Visada | 1 ligoje |
| PAX6paired box 6 | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Visada | 1 ligoje |
| RYR1ryanodine receptor 1 | Visada | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 2 ligose |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Visada | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Visada | 1 ligoje |
| WT1WT1 transcription factor | Visada | 1 ligoje |
| ZNF407zinc finger protein 407 | Visada | 1 ligoje |
| DBHdopamine beta-hydroxylase | Labai dažnai (80–99%) | 1 ligoje |
| GSNgelsolin | Labai dažnai (80–99%) | 1 ligoje |
| ABCC8ATP binding cassette subfamily C member 8 | Dažnai (30–79%) | 2 ligose |
| AEBP1AE binding protein 1 | Dažnai (30–79%) | 2 ligose |
| ATXN7L3ataxin 7 like 3 | Dažnai (30–79%) | 1 ligoje |
| AUTS2activator of transcription and developmental regulator AUTS2 | Dažnai (30–79%) | 1 ligoje |
| CERT1ceramide transporter 1 | Dažnai (30–79%) | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Dažnai (30–79%) | 1 ligoje |
| COL13A1collagen type XIII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Dažnai (30–79%) | 1 ligoje |
| DGUOKdeoxyguanosine kinase | Dažnai (30–79%) | 1 ligoje |
| GCKglucokinase | Dažnai (30–79%) | 1 ligoje |
| INSinsulin | Dažnai (30–79%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Dažnai (30–79%) | 1 ligoje |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Dažnai (30–79%) | 3 ligose |
| LAMB2laminin subunit beta 2 | Dažnai (30–79%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Dažnai (30–79%) | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Dažnai (30–79%) | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 34 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PACS1phosphofurin acidic cluster sorting protein 1 | Dažnai (30–79%) | 1 ligoje |
| PDX1pancreatic and duodenal homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Dažnai (30–79%) | 2 ligose |
| RNASEH1ribonuclease H1 | Dažnai (30–79%) | 2 ligose |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Dažnai (30–79%) | 1 ligoje |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Dažnai (30–79%) | 1 ligoje |
| STAC3SH3 and cysteine rich domain 3 | Dažnai (30–79%) | 1 ligoje |
| STAT3signal transducer and activator of transcription 3 | Dažnai (30–79%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Dažnai (30–79%) | 2 ligose |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 2 ligose |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 1 ligoje |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| KDM1Alysine demethylase 1A | Kartais (5–29%) | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| NOTCH3notch receptor 3 | Kartais (5–29%) | 1 ligoje |
| NOVA2NOVA alternative splicing regulator 2 | Kartais (5–29%) | 1 ligoje |
| PDZD8PDZ domain containing 8 | Kartais (5–29%) | 1 ligoje |
| PLECplectin | Kartais (5–29%) | 1 ligoje |
| POLRMTRNA polymerase mitochondrial | Kartais (5–29%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Kartais (5–29%) | 1 ligoje |
| TUBA1Atubulin alpha 1a | Kartais (5–29%) | 1 ligoje |
| TUBB2Btubulin beta 2B class IIb | Kartais (5–29%) | 1 ligoje |
| TYMSthymidylate synthetase | Kartais (5–29%) | 1 ligoje |
| FLNAfilamin A | Retai (1–4 %) | 1 ligoje |
| NGLY1N-glycanase 1 | Retai (1–4 %) | 1 ligoje |
| PAHphenylalanine hydroxylase | Retai (1–4 %) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Retai (1–4 %) | 1 ligoje |
| KIF21Akinesin family member 21A | Neužfiksuota | 1 ligoje |
| PHOX2Apaired like homeobox 2A | 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.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.19-9814e911.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
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