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Cecha
Drooping of both upper eyelids
Nazwa kliniczna: Bilateral ptosis
Podsumowanie
- Układ organizmu
- Abnormality of the eye
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Ta strona jako dane
Aby odczytać ją jako JSON, dodaj .json na końcu adresu strony lub zażądaj application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/bilateral-ptosis.json"
page <- fromJSON(url)
page$trait$nameDrooping of both upper eyelidsHP:0001488
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Odczytaj geny powiązane z Drooping of both upper eyelids oraz resztę swojego genomu za pomocą jednego badania.
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Zamawiam 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 →
Odczytaj geny powiązane z Drooping of both upper eyelids oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test74 genów powiązanych z Drooping of both upper eyelids
Zmiany w tych genach powodują rzadkie choroby, w których występuje Drooping of both upper eyelids. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Zawsze | W 1 chorobie |
| DNM1Ldynamin 1L | Zawsze | W 2 chorobach |
| DSTdystonin | Zawsze | W 1 chorobie |
| GUK1guanylate kinase 1 | Zawsze | W 1 chorobie |
| IDUAalpha-L-iduronidase | Zawsze | W 1 chorobie |
| ISCUiron-sulfur cluster assembly enzyme | Zawsze | W 1 chorobie |
| JPH1junctophilin 1 | Zawsze | W 1 chorobie |
| KDM6Alysine demethylase 6A | Zawsze | W 1 chorobie |
| KMT2Dlysine methyltransferase 2D | Zawsze | W 1 chorobie |
| LRP12LDL receptor related protein 12 | Zawsze | W 1 chorobie |
| NHEJ1non-homologous end joining factor 1 | Zawsze | W 1 chorobie |
| NRASNRAS proto-oncogene, GTPase | Zawsze | W 1 chorobie |
| PAX6paired box 6 | Zawsze | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zawsze | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Zawsze | W 1 chorobie |
| RYR1ryanodine receptor 1 | Zawsze | W 1 chorobie |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Zawsze | W 2 chorobach |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Zawsze | W 1 chorobie |
| TWIST1twist family bHLH transcription factor 1 | Zawsze | W 1 chorobie |
| WT1WT1 transcription factor | Zawsze | W 1 chorobie |
| ZNF407zinc finger protein 407 | Zawsze | W 1 chorobie |
| DBHdopamine beta-hydroxylase | Bardzo często (80–99%) | W 1 chorobie |
| GSNgelsolin | Bardzo często (80–99%) | W 1 chorobie |
| ABCC8ATP binding cassette subfamily C member 8 | Często (30–79%) | W 2 chorobach |
| AEBP1AE binding protein 1 | Często (30–79%) | W 2 chorobach |
| ATXN7L3ataxin 7 like 3 | Często (30–79%) | W 1 chorobie |
| AUTS2activator of transcription and developmental regulator AUTS2 | Często (30–79%) | W 1 chorobie |
| CERT1ceramide transporter 1 | Często (30–79%) | W 1 chorobie |
| CHRNGcholinergic receptor nicotinic gamma subunit | Często (30–79%) | W 1 chorobie |
| COL13A1collagen type XIII alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Często (30–79%) | W 1 chorobie |
| DGUOKdeoxyguanosine kinase | Często (30–79%) | W 1 chorobie |
| GCKglucokinase | Często (30–79%) | W 1 chorobie |
| INSinsulin | Często (30–79%) | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Często (30–79%) | W 1 chorobie |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Często (30–79%) | W 3 chorobach |
| LAMB2laminin subunit beta 2 | Często (30–79%) | W 1 chorobie |
| MAFMAF bZIP transcription factor | Często (30–79%) | W 1 chorobie |
| ODC1ornithine decarboxylase 1 | Często (30–79%) | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Często (30–79%) | W 1 chorobie |
Pokaż jeszcze 34 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| PACS1phosphofurin acidic cluster sorting protein 1 | Często (30–79%) | W 1 chorobie |
| PDX1pancreatic and duodenal homeobox 1 | Często (30–79%) | W 1 chorobie |
| RAD21RAD21 cohesin complex component | Często (30–79%) | W 2 chorobach |
| RNASEH1ribonuclease H1 | Często (30–79%) | W 2 chorobach |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Często (30–79%) | W 1 chorobie |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Często (30–79%) | W 1 chorobie |
| STAC3SH3 and cysteine rich domain 3 | Często (30–79%) | W 1 chorobie |
| STAT3signal transducer and activator of transcription 3 | Często (30–79%) | W 1 chorobie |
| TUBB3tubulin beta 3 class III | Często (30–79%) | W 2 chorobach |
| ADNPactivity dependent neuroprotector homeobox | Czasami (5–29%) | W 2 chorobach |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Czasami (5–29%) | W 1 chorobie |
| CDC42BPBCDC42 binding protein kinase beta | Czasami (5–29%) | W 1 chorobie |
| CLCN3Cl-/H+ antiporter 3 | Czasami (5–29%) | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| CRELD1CRELD disulfide isomerase 1 | Czasami (5–29%) | W 1 chorobie |
| KDM1Alysine demethylase 1A | Czasami (5–29%) | W 1 chorobie |
| LRRC7leucine rich repeat containing 7 | Czasami (5–29%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| NOTCH3notch receptor 3 | Czasami (5–29%) | W 1 chorobie |
| NOVA2NOVA alternative splicing regulator 2 | Czasami (5–29%) | W 1 chorobie |
| PDZD8PDZ domain containing 8 | Czasami (5–29%) | W 1 chorobie |
| PLECplectin | Czasami (5–29%) | W 1 chorobie |
| POLRMTRNA polymerase mitochondrial | Czasami (5–29%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Czasami (5–29%) | W 1 chorobie |
| TUBA1Atubulin alpha 1a | Czasami (5–29%) | W 1 chorobie |
| TUBB2Btubulin beta 2B class IIb | Czasami (5–29%) | W 1 chorobie |
| TYMSthymidylate synthetase | Czasami (5–29%) | W 1 chorobie |
| FLNAfilamin A | Rzadko (1–4%) | W 1 chorobie |
| NGLY1N-glycanase 1 | Rzadko (1–4%) | W 1 chorobie |
| PAHphenylalanine hydroxylase | Rzadko (1–4%) | W 1 chorobie |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Rzadko (1–4%) | W 1 chorobie |
| KIF21Akinesin family member 21A | Nie odnotowano | W 1 chorobie |
| PHOX2Apaired like homeobox 2A | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.19-9814e911.
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
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Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
