Tratto
Narrow opening between the eyelids
Nome clinico: Blepharophimosis
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Riepilogo
- Detto anche
- Decreased width of palpebral fissure
- Sistema corporeo
- Abnormality of head or neck
Questa pagina come dati
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page$trait$nameLeggi i geni collegati a Narrow opening between the eyelids e il resto del tuo genoma con un unico test.
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Ottieni il mio Genome Test75 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.
- Intellectual DisabilityReads 21 of these genesHNRNPH1MED12SMARCA2MECP2CREBBPCUL4BAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 6 of these genesTRAF7BRPF1RNU4-2SETD5ZFXNFIBAbout this report →
- Cutis LaxaReads 5 of these genesATP6V1E1ELNATP6V1AEMILIN1SLC2A10About this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
Show 71 more reports
- 3MC Syndrome 1 (MASP1)Reads 1 of these genesMASP1About this report →
- Bailey-Bloch Congenital MyopathyReads 1 of these genesSTAC3About this report →
- Burn-McKeown SyndromeReads 1 of these genesTXNL4AAbout this report →
- Campomelic DysplasiaReads 1 of these genesSOX9About this report →
- Curry-Jones Syndrome (Mosaic SMO Syndrome)Reads 1 of these genesSMOAbout this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- Feingold Syndrome Type 1Reads 1 of these genesMYCNAbout this report →
- Frontonasal Dysplasia with Alopecia and Genital Anomaly (ALX4)Reads 1 of these genesALX4About this report →
- KAT6B-Related DisordersReads 1 of these genesKAT6BAbout this report →
- Kaufman Oculocerebrofacial SyndromeReads 1 of these genesUBE3BAbout this report →
- Restrictive Dermopathy (ZMPSTE24)Reads 1 of these genesZMPSTE24About this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Scalp-Ear-Nipple SyndromeReads 1 of these genesKCTD1About this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Abnormal Calcification TypeReads 1 of these genesDDR2About this report →
- Townes-Brocks SyndromeReads 1 of these genesSALL1About this report →
- Wiedemann-Steiner SyndromeReads 1 of these genesKMT2AAbout this report →
- DNA Repair DiseaseReads 5 of these genesERCC1SLX4FANCD2BRCA1ERCC6About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 4 of these genesERCC1STRA6BCORRAB18About this report →
- Congenital Cranial Dysinnervation DisordersReads 2 of these genesCHN1MAFBAbout this report →
- Fanconi AnemiaReads 3 of these genesSLX4FANCD2BRCA1About this report →
- Enlarged Parietal Foramina (MSX2)Reads 1 of these genesALX4About this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 1 of these genesBRCA1About this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Syndromic CraniosynostosisReads 3 of these genesRECQL4SMOWDR35About this report →
- EBV-Driven Lymphoproliferation and CARD11 Immune DysregulationReads 1 of these genesIKZF2About this report →
- Familial Periodic ParalysisReads 1 of these genesKCNJ2About this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Rothmund-Thomson SyndromeReads 1 of these genesRECQL4About this report →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 1 of these genesRIPK4About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesREREAbout this report →
- Familial Atrial FibrillationReads 1 of these genesKCNJ2About this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesDNMT3AAbout this report →
- Short Qt SyndromeReads 1 of these genesKCNJ2About this report →
- TubulinopathiesReads 1 of these genesTUBBAbout this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesCEP57About this report →
- Noonan SyndromeReads 2 of these genesKRASMAPK1About this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Hereditary SpherocytosisReads 1 of these genesANK1About this report →
- Congenital Myasthenic SyndromeReads 2 of these genesALG14MUSKAbout this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR35About this report →
- Waardenburg SyndromeReads 1 of these genesPAX3About this report →
- Epilepsy (Full Panel)Reads 5 of these genesMECP2ATP6V1AFOXG1SLC6A1UGDHAbout this report →
- Other Inborn Errors of ImmunityReads 5 of these genesIKZF2NCF1RELKRASTBX1About this report →
- Long QT SyndromeReads 1 of these genesKCNJ2About this report →
- LipodystrophyReads 1 of these genesZMPSTE24About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesELNAbout this report →
- Female InfertilityReads 2 of these genesFOXL2TP63About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesTUBBAbout this report →
- Hypertrophic CardiomyopathyReads 2 of these genesKRASMAPK1About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesFAT4About this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesCEP152About this report →
- Ectodermal DysplasiasReads 1 of these genesTP63About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesHHATAbout this report →
- Autoimmune DiseaseReads 1 of these genesKRASAbout this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesRAB18About this report →
- Congenital Disorders of GlycosylationReads 2 of these genesALG14MOGSAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesSMOAbout this report →
- Spinal Muscular AtrophyReads 1 of these genesEMILIN1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesGJA1About this report →
- Male InfertilityReads 1 of these genesFKBP6About this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesEMILIN1SEPTIN9About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesEMILIN1About this report →
- Hearing Loss and DeafnessReads 1 of these genesIKZF2About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesDNAJC30About this report →
- Inherited Neurodegenerative DisordersReads 1 of these genesEMILIN1About this report →
Leggi i geni collegati a Narrow opening between the eyelids e il resto del tuo genoma con un unico test.
A partire da 449 $Spedizione gratuita · Risultati in 6–8 settimane
Ottieni il mio Genome Test138 geni collegati a Narrow opening between the eyelids
Alterazioni in questi geni causano malattie rare in cui si osserva Narrow opening between the eyelids. La maggior parte delle persone con questo tratto non presenta nessuna di tali condizioni, e un gene di questo elenco non dice nulla sul genoma di nessuno in particolare.
| Gene | Frequenza di osservazione | Condizioni |
|---|---|---|
| ALX4ALX homeobox 4 | Sempre | In 1 condizione |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Sempre | In 1 condizione |
| CEP57centrosomal protein 57 | Sempre | In 1 condizione |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sempre | In 1 condizione |
| FOXL2forkhead box L2 | Sempre | In 2 condizioni |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Sempre | In 1 condizione |
| IKZF2IKAROS family zinc finger 2 | Sempre | In 1 condizione |
| IRX5iroquois homeobox 5 | Sempre | In 1 condizione |
| MED12mediator complex subunit 12 | Sempre | In 2 condizioni |
| PRIM1DNA primase subunit 1 | Sempre | In 1 condizione |
| RBMXRNA binding motif protein X-linked | Sempre | In 2 condizioni |
| RBSNrabenosyn, RAB effector | Sempre | In 1 condizione |
| SCARF2scavenger receptor class F member 2 | Sempre | In 2 condizioni |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Sempre | In 2 condizioni |
| UBE3Bubiquitin protein ligase E3B | Sempre | In 2 condizioni |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Molto spesso (80–99%) | In 1 condizione |
| BCL11ABCL11 transcription factor A | Molto spesso (80–99%) | In 1 condizione |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Molto spesso (80–99%) | In 1 condizione |
| CLIP2CAP-Gly domain containing linker protein 2 | Molto spesso (80–99%) | In 1 condizione |
| COLEC10collectin subfamily member 10 | Molto spesso (80–99%) | In 2 condizioni |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Molto spesso (80–99%) | In 1 condizione |
| EIF4Heukaryotic translation initiation factor 4H | Molto spesso (80–99%) | In 1 condizione |
| ELNelastin | Molto spesso (80–99%) | In 2 condizioni |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Molto spesso (80–99%) | In 1 condizione |
| GTF2Igeneral transcription factor IIi | Molto spesso (80–99%) | In 1 condizione |
| GTF2IRD1GTF2I repeat domain containing 1 | Molto spesso (80–99%) | In 1 condizione |
| GTF2IRD2GTF2I repeat domain containing 2 | Molto spesso (80–99%) | In 1 condizione |
| KAT6Blysine acetyltransferase 6B | Molto spesso (80–99%) | In 2 condizioni |
| LIMK1LIM domain kinase 1 | Molto spesso (80–99%) | In 1 condizione |
| MECP2methyl-CpG binding protein 2 | Molto spesso (80–99%) | In 1 condizione |
| METTL27methyltransferase like 27 | Molto spesso (80–99%) | In 1 condizione |
| NCF1neutrophil cytosolic factor 1 | Molto spesso (80–99%) | In 1 condizione |
| PAX3paired box 3 | Molto spesso (80–99%) | In 4 condizioni |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Molto spesso (80–99%) | In 3 condizioni |
| RELREL proto-oncogene, NF-kB subunit | Molto spesso (80–99%) | In 1 condizione |
| RFC2replication factor C subunit 2 | Molto spesso (80–99%) | In 1 condizione |
| SMOC1SPARC related modular calcium binding 1 | Molto spesso (80–99%) | In 2 condizioni |
| STX1Asyntaxin 1A | Molto spesso (80–99%) | In 1 condizione |
| TBL2transducin beta like 2 | Molto spesso (80–99%) | In 1 condizione |
| TMEM270transmembrane protein 270 | Molto spesso (80–99%) | In 1 condizione |
Mostra altri 98 geni
| Gene | Frequenza di osservazione | Condizioni |
|---|---|---|
| VPS37DVPS37D subunit of ESCRT-I | Molto spesso (80–99%) | In 1 condizione |
| XPO1exportin 1 | Molto spesso (80–99%) | In 1 condizione |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Spesso (30–79%) | In 1 condizione |
| ATP6V1AATPase H+ transporting V1 subunit A | Spesso (30–79%) | In 1 condizione |
| CEP152centrosomal protein 152 | Spesso (30–79%) | In 1 condizione |
| CHN1chimerin 1 | Spesso (30–79%) | In 1 condizione |
| COLEC11collectin subfamily member 11 | Spesso (30–79%) | In 2 condizioni |
| CREBBPCREB binding lysine acetyltransferase | Spesso (30–79%) | In 1 condizione |
| CUL4Bcullin 4B | Spesso (30–79%) | In 1 condizione |
| EP300EP300 lysine acetyltransferase | Spesso (30–79%) | In 1 condizione |
| FAT4FAT atypical cadherin 4 | Spesso (30–79%) | In 3 condizioni |
| FOXG1forkhead box G1 | Spesso (30–79%) | In 1 condizione |
| HHAThedgehog acyltransferase | Spesso (30–79%) | In 1 condizione |
| HSPG2heparan sulfate proteoglycan 2 | Spesso (30–79%) | In 2 condizioni |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Spesso (30–79%) | In 1 condizione |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Spesso (30–79%) | In 1 condizione |
| KRASKRas proto-oncogene, GTPase | Spesso (30–79%) | In 1 condizione |
| MAFBMAF bZIP transcription factor B | Spesso (30–79%) | In 1 condizione |
| MASP1MBL associated serine protease 1 | Spesso (30–79%) | In 2 condizioni |
| MCTP2multiple C2 and transmembrane domain containing 2 | Spesso (30–79%) | In 1 condizione |
| MLXIPLMLX interacting protein like | Spesso (30–79%) | In 1 condizione |
| PHF6PHD finger protein 6 | Spesso (30–79%) | In 2 condizioni |
| RIPK4receptor interacting serine/threonine kinase 4 | Spesso (30–79%) | In 1 condizione |
| SALL4spalt like transcription factor 4 | Spesso (30–79%) | In 1 condizione |
| SMAD4SMAD family member 4 | Spesso (30–79%) | In 2 condizioni |
| STRA6signaling receptor and transporter of retinol STRA6 | Spesso (30–79%) | In 1 condizione |
| TBX15T-box transcription factor 15 | Spesso (30–79%) | In 2 condizioni |
| TLK2tousled like kinase 2 | Spesso (30–79%) | In 1 condizione |
| TRAF7TNF receptor associated factor 7 | Spesso (30–79%) | In 1 condizione |
| TUBBtubulin beta class I | Spesso (30–79%) | In 1 condizione |
| ANK1ankyrin 1 | A volte (5–29%) | In 1 condizione |
| ATXN7L3ataxin 7 like 3 | A volte (5–29%) | In 1 condizione |
| BCRBCR activator of RhoGEF and GTPase | A volte (5–29%) | In 1 condizione |
| BRPF1bromodomain and PHD finger containing 1 | A volte (5–29%) | In 1 condizione |
| CDK13cyclin dependent kinase 13 | A volte (5–29%) | In 1 condizione |
| CRKLCRK like proto-oncogene, adaptor protein | A volte (5–29%) | In 1 condizione |
| DACT1dishevelled binding antagonist of beta catenin 1 | A volte (5–29%) | In 1 condizione |
| DCHS1dachsous cadherin-related 1 | A volte (5–29%) | In 2 condizioni |
| DLK1delta like non-canonical Notch ligand 1 | A volte (5–29%) | In 1 condizione |
| DOT1LDOT1 like histone lysine methyltransferase | A volte (5–29%) | In 1 condizione |
| EMILIN1elastin microfibril interfacer 1 | A volte (5–29%) | In 1 condizione |
| FOXP1forkhead box P1 | A volte (5–29%) | In 1 condizione |
| GPKOWG-patch domain and KOW motifs | A volte (5–29%) | In 1 condizione |
| KCTD1potassium channel tetramerization domain containing 1 | A volte (5–29%) | In 1 condizione |
| MAPK1mitogen-activated protein kinase 1 | A volte (5–29%) | In 1 condizione |
| MAPRE2microtubule associated protein RP/EB family member 2 | A volte (5–29%) | In 1 condizione |
| MEG3maternally expressed 3 | A volte (5–29%) | In 1 condizione |
| MYL11myosin light chain 11 | A volte (5–29%) | In 1 condizione |
| NSUN2NOP2/Sun RNA methyltransferase 2 | A volte (5–29%) | In 1 condizione |
| ODC1ornithine decarboxylase 1 | A volte (5–29%) | In 2 condizioni |
| REREarginine-glutamic acid dipeptide repeats | A volte (5–29%) | In 2 condizioni |
| RNU4-2RNA, U4 small nuclear 2 | A volte (5–29%) | In 1 condizione |
| RTL1retrotransposon Gag like 1 | A volte (5–29%) | In 1 condizione |
| SALL1spalt like transcription factor 1 | A volte (5–29%) | In 1 condizione |
| SETD5SET domain containing 5 | A volte (5–29%) | In 1 condizione |
| SLC2A10solute carrier family 2 member 10 | A volte (5–29%) | In 2 condizioni |
| SLC6A1solute carrier family 6 member 1 | A volte (5–29%) | In 1 condizione |
| SLC6A11solute carrier family 6 member 11 | A volte (5–29%) | In 1 condizione |
| SLX4SLX4 structure-specific endonuclease subunit | A volte (5–29%) | In 1 condizione |
| ZFXzinc finger protein X-linked | A volte (5–29%) | In 1 condizione |
| CTCFCCCTC-binding factor | Raramente (1–4%) | In 1 condizione |
| FANCD2FA complementation group D2 | Raramente (1–4%) | In 1 condizione |
| ATRATR checkpoint kinase | Non registrato | In 1 condizione |
| BCORBCL6 corepressor | Non registrato | In 1 condizione |
| BRCA1BRCA1 DNA repair associated | Non registrato | In 1 condizione |
| DDR2discoidin domain receptor tyrosine kinase 2 | Non registrato | In 1 condizione |
| DGCR2DiGeorge syndrome critical region gene 2 | Non registrato | In 1 condizione |
| DGCR6DiGeorge syndrome critical region gene 6 | Non registrato | In 1 condizione |
| DGCR8DGCR8 microprocessor complex subunit | Non registrato | In 1 condizione |
| DNMT3ADNA methyltransferase 3 alpha | Non registrato | In 1 condizione |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Non registrato | In 1 condizione |
| ESS2ess-2 spliceosome associated protein | Non registrato | In 1 condizione |
| GATAD2BGATA zinc finger domain containing 2B | Non registrato | In 1 condizione |
| GJA1gap junction protein alpha 1 | Non registrato | In 1 condizione |
| GPC6glypican 6 | Non registrato | In 1 condizione |
| HDAC4histone deacetylase 4 | Non registrato | In 1 condizione |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Non registrato | In 1 condizione |
| KMT2Alysine methyltransferase 2A | Non registrato | In 1 condizione |
| MOGSmannosyl-oligosaccharide glucosidase | Non registrato | In 1 condizione |
| MUSKmuscle associated receptor tyrosine kinase | Non registrato | In 1 condizione |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Non registrato | In 1 condizione |
| MYH3myosin heavy chain 3 | Non registrato | In 1 condizione |
| NFIBnuclear factor I B | Non registrato | In 1 condizione |
| ORC1origin recognition complex subunit 1 | Non registrato | In 1 condizione |
| RAB18RAB18, member RAS oncogene family | Non registrato | In 1 condizione |
| RECQL4RecQ like helicase 4 | Non registrato | In 1 condizione |
| SEPTIN9septin 9 | Non registrato | In 1 condizione |
| SF3B2splicing factor 3b subunit 2 | Non registrato | In 1 condizione |
| SMOsmoothened, frizzled class receptor | Non registrato | In 1 condizione |
| SOX9SRY-box transcription factor 9 | Non registrato | In 1 condizione |
| STAC3SH3 and cysteine rich domain 3 | Non registrato | In 1 condizione |
| TBL1XR1TBL1X/Y related 1 | Non registrato | In 1 condizione |
| TBX1T-box transcription factor 1 | Non registrato | In 2 condizioni |
| TP63tumor protein p63 | Non registrato | In 1 condizione |
| TXNL4Athioredoxin like 4A | Non registrato | In 1 condizione |
| UGDHUDP-glucose 6-dehydrogenase | Non registrato | In 1 condizione |
| WDR35WD repeat domain 35 | Non registrato | In 1 condizione |
| ZMPSTE24zinc metallopeptidase STE24 | Non registrato | In 1 condizione |
Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.
Tratti più specifici
Tratti più generali
Fonte dei dati
- Human Phenotype Ontology, versione 2026-09-01: il tratto, i suoi nomi, la sua definizione e i geni a esso collegati. Per saperne di più visiti hpo.jax.org.
- Versione dei dati 2026.10.19-9814e911.
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