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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Narrow opening between the eyelids
Klinikinis pavadinimas: Blepharophimosis
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Santrauka
- Taip pat vadinama
- Decreased width of palpebral fissure
- Kūno sistema
- Abnormality of head or neck
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/blepharophimosis.json"
page <- fromJSON(url)
page$trait$nameNarrow opening between the eyelidsHP:0000581
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Narrow opening between the eyelids, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test138 genų susiję su Narrow opening between the eyelids
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Narrow opening between the 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 |
|---|---|---|
| ALX4ALX homeobox 4 | Visada | 1 ligoje |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Visada | 1 ligoje |
| CEP57centrosomal protein 57 | Visada | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Visada | 1 ligoje |
| FOXL2forkhead box L2 | Visada | 2 ligose |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Visada | 1 ligoje |
| IKZF2IKAROS family zinc finger 2 | Visada | 1 ligoje |
| IRX5iroquois homeobox 5 | Visada | 1 ligoje |
| MED12mediator complex subunit 12 | Visada | 2 ligose |
| PRIM1DNA primase subunit 1 | Visada | 1 ligoje |
| RBMXRNA binding motif protein X-linked | Visada | 2 ligose |
| RBSNrabenosyn, RAB effector | Visada | 1 ligoje |
| SCARF2scavenger receptor class F member 2 | Visada | 2 ligose |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Visada | 2 ligose |
| UBE3Bubiquitin protein ligase E3B | Visada | 2 ligose |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Labai dažnai (80–99%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Labai dažnai (80–99%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Labai dažnai (80–99%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| COLEC10collectin subfamily member 10 | Labai dažnai (80–99%) | 2 ligose |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Labai dažnai (80–99%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Labai dažnai (80–99%) | 1 ligoje |
| ELNelastin | Labai dažnai (80–99%) | 2 ligose |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Labai dažnai (80–99%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Labai dažnai (80–99%) | 2 ligose |
| LIMK1LIM domain kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| METTL27methyltransferase like 27 | Labai dažnai (80–99%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| PAX3paired box 3 | Labai dažnai (80–99%) | 4 ligose |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Labai dažnai (80–99%) | 3 ligose |
| RELREL proto-oncogene, NF-kB subunit | Labai dažnai (80–99%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| SMOC1SPARC related modular calcium binding 1 | Labai dažnai (80–99%) | 2 ligose |
| STX1Asyntaxin 1A | Labai dažnai (80–99%) | 1 ligoje |
| TBL2transducin beta like 2 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 98 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| VPS37DVPS37D subunit of ESCRT-I | Labai dažnai (80–99%) | 1 ligoje |
| XPO1exportin 1 | Labai dažnai (80–99%) | 1 ligoje |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Dažnai (30–79%) | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Dažnai (30–79%) | 1 ligoje |
| CEP152centrosomal protein 152 | Dažnai (30–79%) | 1 ligoje |
| CHN1chimerin 1 | Dažnai (30–79%) | 1 ligoje |
| COLEC11collectin subfamily member 11 | Dažnai (30–79%) | 2 ligose |
| CREBBPCREB binding lysine acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| CUL4Bcullin 4B | Dažnai (30–79%) | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Dažnai (30–79%) | 3 ligose |
| FOXG1forkhead box G1 | Dažnai (30–79%) | 1 ligoje |
| HHAThedgehog acyltransferase | Dažnai (30–79%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 2 ligose |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 1 ligoje |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Dažnai (30–79%) | 1 ligoje |
| MASP1MBL associated serine protease 1 | Dažnai (30–79%) | 2 ligose |
| MCTP2multiple C2 and transmembrane domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| MLXIPLMLX interacting protein like | Dažnai (30–79%) | 1 ligoje |
| PHF6PHD finger protein 6 | Dažnai (30–79%) | 2 ligose |
| RIPK4receptor interacting serine/threonine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| SALL4spalt like transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| SMAD4SMAD family member 4 | Dažnai (30–79%) | 2 ligose |
| STRA6signaling receptor and transporter of retinol STRA6 | Dažnai (30–79%) | 1 ligoje |
| TBX15T-box transcription factor 15 | Dažnai (30–79%) | 2 ligose |
| TLK2tousled like kinase 2 | Dažnai (30–79%) | 1 ligoje |
| TRAF7TNF receptor associated factor 7 | Dažnai (30–79%) | 1 ligoje |
| TUBBtubulin beta class I | Dažnai (30–79%) | 1 ligoje |
| ANK1ankyrin 1 | Kartais (5–29%) | 1 ligoje |
| ATXN7L3ataxin 7 like 3 | Kartais (5–29%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Kartais (5–29%) | 1 ligoje |
| BRPF1bromodomain and PHD finger containing 1 | Kartais (5–29%) | 1 ligoje |
| CDK13cyclin dependent kinase 13 | Kartais (5–29%) | 1 ligoje |
| CRKLCRK like proto-oncogene, adaptor protein | Kartais (5–29%) | 1 ligoje |
| DACT1dishevelled binding antagonist of beta catenin 1 | Kartais (5–29%) | 1 ligoje |
| DCHS1dachsous cadherin-related 1 | Kartais (5–29%) | 2 ligose |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| EMILIN1elastin microfibril interfacer 1 | Kartais (5–29%) | 1 ligoje |
| FOXP1forkhead box P1 | Kartais (5–29%) | 1 ligoje |
| GPKOWG-patch domain and KOW motifs | Kartais (5–29%) | 1 ligoje |
| KCTD1potassium channel tetramerization domain containing 1 | Kartais (5–29%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| MYL11myosin light chain 11 | Kartais (5–29%) | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Kartais (5–29%) | 2 ligose |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 2 ligose |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SALL1spalt like transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SETD5SET domain containing 5 | Kartais (5–29%) | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Kartais (5–29%) | 2 ligose |
| SLC6A1solute carrier family 6 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC6A11solute carrier family 6 member 11 | Kartais (5–29%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| FANCD2FA complementation group D2 | Retai (1–4 %) | 1 ligoje |
| ATRATR checkpoint kinase | Neužfiksuota | 1 ligoje |
| BCORBCL6 corepressor | Neužfiksuota | 1 ligoje |
| BRCA1BRCA1 DNA repair associated | Neužfiksuota | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Neužfiksuota | 1 ligoje |
| DGCR2DiGeorge syndrome critical region gene 2 | Neužfiksuota | 1 ligoje |
| DGCR6DiGeorge syndrome critical region gene 6 | Neužfiksuota | 1 ligoje |
| DGCR8DGCR8 microprocessor complex subunit | Neužfiksuota | 1 ligoje |
| DNMT3ADNA methyltransferase 3 alpha | Neužfiksuota | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Neužfiksuota | 1 ligoje |
| ESS2ess-2 spliceosome associated protein | Neužfiksuota | 1 ligoje |
| GATAD2BGATA zinc finger domain containing 2B | Neužfiksuota | 1 ligoje |
| GJA1gap junction protein alpha 1 | Neužfiksuota | 1 ligoje |
| GPC6glypican 6 | Neužfiksuota | 1 ligoje |
| HDAC4histone deacetylase 4 | Neužfiksuota | 1 ligoje |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Neužfiksuota | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Neužfiksuota | 1 ligoje |
| MOGSmannosyl-oligosaccharide glucosidase | Neužfiksuota | 1 ligoje |
| MUSKmuscle associated receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Neužfiksuota | 1 ligoje |
| MYH3myosin heavy chain 3 | Neužfiksuota | 1 ligoje |
| NFIBnuclear factor I B | Neužfiksuota | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Neužfiksuota | 1 ligoje |
| RAB18RAB18, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| SEPTIN9septin 9 | Neužfiksuota | 1 ligoje |
| SF3B2splicing factor 3b subunit 2 | Neužfiksuota | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Neužfiksuota | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Neužfiksuota | 1 ligoje |
| STAC3SH3 and cysteine rich domain 3 | Neužfiksuota | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Neužfiksuota | 1 ligoje |
| TBX1T-box transcription factor 1 | Neužfiksuota | 2 ligose |
| TP63tumor protein p63 | Neužfiksuota | 1 ligoje |
| TXNL4Athioredoxin like 4A | Neužfiksuota | 1 ligoje |
| UGDHUDP-glucose 6-dehydrogenase | Neužfiksuota | 1 ligoje |
| WDR35WD repeat domain 35 | Neužfiksuota | 1 ligoje |
| ZMPSTE24zinc metallopeptidase STE24 | 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 2026.10.16-c6eea6bf.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites