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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Abnormally close eyes
Klinikinis pavadinimas: Hypotelorism
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Santrauka
- Taip pat vadinama
- Closely spaced eyes, Decreased distance between eye sockets, Decreased distance between eyes, Decreased interpupillary distance, Decreased orbital separation, Ocular hypotelorism
- 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/hypotelorism.json"
page <- fromJSON(url)
page$trait$nameAbnormally close eyesHP:0000601
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Abnormally close eyes, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test157 genų susiję su Abnormally close eyes
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Abnormally close eyes. 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 |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Visada | 1 ligoje |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Visada | 1 ligoje |
| CEP57centrosomal protein 57 | Visada | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Visada | 1 ligoje |
| COX14cytochrome c oxidase assembly factor COX14 | Visada | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Visada | 6 ligose |
| FKBP14FKBP prolyl isomerase 14 | Visada | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Visada | 2 ligose |
| KDM6Alysine demethylase 6A | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Visada | 1 ligoje |
| NINninein | Visada | 2 ligose |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| SIX3SIX homeobox 3 | Visada | 6 ligose |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Visada | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | Visada | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Labai dažnai (80–99%) | 6 ligose |
| CRIPTOcripto, EGF-CFC family member | Labai dažnai (80–99%) | 5 ligose |
| DISP1dispatched RND transporter family member 1 | Labai dažnai (80–99%) | 5 ligose |
| DLL1delta like canonical Notch ligand 1 | Labai dažnai (80–99%) | 5 ligose |
| FGF8fibroblast growth factor 8 | Labai dažnai (80–99%) | 5 ligose |
| FOXH1forkhead box H1 | Labai dažnai (80–99%) | 5 ligose |
| GAS1growth arrest specific 1 | Labai dažnai (80–99%) | 5 ligose |
| GLI2GLI family zinc finger 2 | Labai dažnai (80–99%) | 7 ligose |
| NDPnorrin cystine knot growth factor NDP | Labai dažnai (80–99%) | 1 ligoje |
| NODALnodal growth differentiation factor | Labai dažnai (80–99%) | 5 ligose |
| PLCH1phospholipase C eta 1 | Labai dažnai (80–99%) | 1 ligoje |
| PTCH1patched 1 | Labai dažnai (80–99%) | 6 ligose |
| SHHsonic hedgehog signaling molecule | Labai dažnai (80–99%) | 7 ligose |
| SMC1Astructural maintenance of chromosomes 1A | Labai dažnai (80–99%) | 2 ligose |
| STAG2STAG2 cohesin complex component | Labai dažnai (80–99%) | 2 ligose |
| STILSTIL centriolar assembly protein | Labai dažnai (80–99%) | 4 ligose |
| TGIF1TGFB induced factor homeobox 1 | Labai dažnai (80–99%) | 6 ligose |
| ZIC2Zic family zinc finger 2 | Labai dažnai (80–99%) | 6 ligose |
| AARS1alanyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| ABCC9ATP binding cassette subfamily C member 9 | Dažnai (30–79%) | 1 ligoje |
| ARCN1archain 1 coat protein complex I subunit delta | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 117 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CCDC32coiled-coil domain containing 32 | Dažnai (30–79%) | 1 ligoje |
| CDK19cyclin dependent kinase 19 | Dažnai (30–79%) | 1 ligoje |
| DCLRE1BDNA cross-link repair 1B | Dažnai (30–79%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Dažnai (30–79%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Dažnai (30–79%) | 1 ligoje |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Dažnai (30–79%) | 1 ligoje |
| FREM1FRAS1 related extracellular matrix 1 | Dažnai (30–79%) | 1 ligoje |
| GGT1gamma-glutamyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Dažnai (30–79%) | 1 ligoje |
| GPT2glutamic--pyruvic transaminase 2 | Dažnai (30–79%) | 2 ligose |
| IFT122intraflagellar transport 122 | Dažnai (30–79%) | 2 ligose |
| IFT43intraflagellar transport 43 | Dažnai (30–79%) | 1 ligoje |
| IFT52intraflagellar transport 52 | Dažnai (30–79%) | 1 ligoje |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Dažnai (30–79%) | 1 ligoje |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Dažnai (30–79%) | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Dažnai (30–79%) | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Dažnai (30–79%) | 1 ligoje |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Dažnai (30–79%) | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 1 ligoje |
| QARS1glutaminyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Dažnai (30–79%) | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Dažnai (30–79%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Dažnai (30–79%) | 1 ligoje |
| SHPKsedoheptulokinase | Dažnai (30–79%) | 1 ligoje |
| SLC4A10solute carrier family 4 member 10 | Dažnai (30–79%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Dažnai (30–79%) | 1 ligoje |
| TRAPPC9trafficking protein particle complex subunit 9 | Dažnai (30–79%) | 1 ligoje |
| WDR19WD repeat domain 19 | Dažnai (30–79%) | 1 ligoje |
| WDR35WD repeat domain 35 | Dažnai (30–79%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Dažnai (30–79%) | 1 ligoje |
| AASSaminoadipate-semialdehyde synthase | Kartais (5–29%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Kartais (5–29%) | 1 ligoje |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Kartais (5–29%) | 1 ligoje |
| CAPRIN1cell cycle associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| CNOT1CCR4-NOT transcription complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| CNOT3CCR4-NOT transcription complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| CUX1cut like homeobox 1 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DDB1damage specific DNA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Kartais (5–29%) | 2 ligose |
| ELNelastin | Kartais (5–29%) | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Kartais (5–29%) | 2 ligose |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| FANCD2FA complementation group D2 | Kartais (5–29%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Kartais (5–29%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Kartais (5–29%) | 1 ligoje |
| GATA2GATA binding protein 2 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| GON7GON7 subunit of KEOPS complex | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Kartais (5–29%) | 1 ligoje |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Kartais (5–29%) | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Kartais (5–29%) | 1 ligoje |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| KAT8lysine acetyltransferase 8 | Kartais (5–29%) | 1 ligoje |
| KCTD1potassium channel tetramerization domain containing 1 | Kartais (5–29%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Kartais (5–29%) | 1 ligoje |
| KIF26Akinesin family member 26A | Kartais (5–29%) | 1 ligoje |
| LAGE3L antigen family member 3 | Kartais (5–29%) | 1 ligoje |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| MLXIPLMLX interacting protein like | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| MSL2MSL complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| MSX2msh homeobox 2 | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 1 ligoje |
| NTNG2netrin G2 | Kartais (5–29%) | 1 ligoje |
| NUP107nucleoporin 107 | Kartais (5–29%) | 1 ligoje |
| NUP133nucleoporin 133 | Kartais (5–29%) | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Kartais (5–29%) | 1 ligoje |
| PDE4Dphosphodiesterase 4D | Kartais (5–29%) | 1 ligoje |
| POLRMTRNA polymerase mitochondrial | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 2 ligose |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Kartais (5–29%) | 1 ligoje |
| PYCR1pyrroline-5-carboxylate reductase 1 | Kartais (5–29%) | 1 ligoje |
| RECQL4RecQ like helicase 4 | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RTTNrotatin | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TP53RKTP53 regulating kinase | Kartais (5–29%) | 1 ligoje |
| TPRKBTP53RK binding protein | Kartais (5–29%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Kartais (5–29%) | 1 ligoje |
| WDR73WD repeat domain 73 | Kartais (5–29%) | 1 ligoje |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| EBF3EBF transcription factor 3 | 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 |
| NARS1asparaginyl-tRNA synthetase 1 | Retai (1–4 %) | 1 ligoje |
| PAHphenylalanine hydroxylase | Retai (1–4 %) | 1 ligoje |
| SMPD4sphingomyelin phosphodiesterase 4 | Retai (1–4 %) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Neužfiksuota | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Neužfiksuota | 1 ligoje |
| BLTP1bridge-like lipid transfer protein family member 1 | Neužfiksuota | 1 ligoje |
| EVCEvC ciliary complex subunit 1 | Neužfiksuota | 1 ligoje |
| EVC2EvC ciliary complex subunit 2 | Neužfiksuota | 1 ligoje |
| GSCgoosecoid homeobox | Neužfiksuota | 1 ligoje |
| LIG4DNA ligase 4 | Neužfiksuota | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Neužfiksuota | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Neužfiksuota | 1 ligoje |
| OPHN1oligophrenin 1 | Neužfiksuota | 1 ligoje |
| PROKR2prokineticin receptor 2 | Neužfiksuota | 1 ligoje |
| RLIMring finger protein, LIM domain interacting | Neužfiksuota | 1 ligoje |
| SEPTIN9septin 9 | Neužfiksuota | 1 ligoje |
| SLC35A1solute carrier family 35 member A1 | Neužfiksuota | 1 ligoje |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| STIM1stromal interaction molecule 1 | Neužfiksuota | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Neužfiksuota | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | 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 2026.10.17-8666dff2.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites