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Cecha
Abnormally close eyes
Nazwa kliniczna: Hypotelorism
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Podsumowanie
- Znana także jako
- Closely spaced eyes, Decreased distance between eye sockets, Decreased distance between eyes, Decreased interpupillary distance, Decreased orbital separation, Ocular hypotelorism
- 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/hypotelorism.json"
page <- fromJSON(url)
page$trait$nameAbnormally close eyesHP:0000601
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Odczytaj geny powiązane z Abnormally close eyes oraz resztę swojego genomu za pomocą jednego badania.
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Zamawiam Genome Test80 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.
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- Non-Acquired Combined Pituitary Hormone DeficiencyReads 10 of these genesSIX3CDONDISP1GLI2PLCH1PTCH1About this report →
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- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
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- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
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Odczytaj geny powiązane z Abnormally close eyes oraz resztę swojego genomu za pomocą jednego badania.
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Zamawiam Genome Test157 genów powiązanych z Abnormally close eyes
Zmiany w tych genach powodują rzadkie choroby, w których występuje Abnormally close eyes. 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 |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Zawsze | W 1 chorobie |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Zawsze | W 1 chorobie |
| CEP57centrosomal protein 57 | Zawsze | W 1 chorobie |
| CILK1ciliogenesis associated kinase 1 | Zawsze | W 1 chorobie |
| COX14cytochrome c oxidase assembly factor COX14 | Zawsze | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Zawsze | W 6 chorobach |
| FKBP14FKBP prolyl isomerase 14 | Zawsze | W 1 chorobie |
| GTF2H5general transcription factor IIH subunit 5 | Zawsze | W 2 chorobach |
| KDM6Alysine demethylase 6A | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| KMT2Dlysine methyltransferase 2D | Zawsze | W 1 chorobie |
| NINninein | Zawsze | W 2 chorobach |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Zawsze | W 1 chorobie |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Zawsze | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| SIX3SIX homeobox 3 | Zawsze | W 6 chorobach |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Zawsze | W 1 chorobie |
| XRCC4X-ray repair cross complementing 4 | Zawsze | W 1 chorobie |
| CDONcell adhesion associated, oncogene regulated | Bardzo często (80–99%) | W 6 chorobach |
| CRIPTOcripto, EGF-CFC family member | Bardzo często (80–99%) | W 5 chorobach |
| DISP1dispatched RND transporter family member 1 | Bardzo często (80–99%) | W 5 chorobach |
| DLL1delta like canonical Notch ligand 1 | Bardzo często (80–99%) | W 5 chorobach |
| FGF8fibroblast growth factor 8 | Bardzo często (80–99%) | W 5 chorobach |
| FOXH1forkhead box H1 | Bardzo często (80–99%) | W 5 chorobach |
| GAS1growth arrest specific 1 | Bardzo często (80–99%) | W 5 chorobach |
| GLI2GLI family zinc finger 2 | Bardzo często (80–99%) | W 7 chorobach |
| NDPnorrin cystine knot growth factor NDP | Bardzo często (80–99%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Bardzo często (80–99%) | W 5 chorobach |
| PLCH1phospholipase C eta 1 | Bardzo często (80–99%) | W 1 chorobie |
| PTCH1patched 1 | Bardzo często (80–99%) | W 6 chorobach |
| SHHsonic hedgehog signaling molecule | Bardzo często (80–99%) | W 7 chorobach |
| SMC1Astructural maintenance of chromosomes 1A | Bardzo często (80–99%) | W 2 chorobach |
| STAG2STAG2 cohesin complex component | Bardzo często (80–99%) | W 2 chorobach |
| STILSTIL centriolar assembly protein | Bardzo często (80–99%) | W 4 chorobach |
| TGIF1TGFB induced factor homeobox 1 | Bardzo często (80–99%) | W 6 chorobach |
| ZIC2Zic family zinc finger 2 | Bardzo często (80–99%) | W 6 chorobach |
| AARS1alanyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| ABCC9ATP binding cassette subfamily C member 9 | Często (30–79%) | W 1 chorobie |
| ARCN1archain 1 coat protein complex I subunit delta | Często (30–79%) | W 1 chorobie |
Pokaż jeszcze 117 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| CCDC32coiled-coil domain containing 32 | Często (30–79%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Często (30–79%) | W 1 chorobie |
| DCLRE1BDNA cross-link repair 1B | Często (30–79%) | W 1 chorobie |
| DPYSL5dihydropyrimidinase like 5 | Często (30–79%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Często (30–79%) | W 1 chorobie |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Często (30–79%) | W 1 chorobie |
| FREM1FRAS1 related extracellular matrix 1 | Często (30–79%) | W 1 chorobie |
| GGT1gamma-glutamyltransferase 1 | Często (30–79%) | W 1 chorobie |
| GJA1gap junction protein alpha 1 | Często (30–79%) | W 1 chorobie |
| GPT2glutamic--pyruvic transaminase 2 | Często (30–79%) | W 2 chorobach |
| IFT122intraflagellar transport 122 | Często (30–79%) | W 2 chorobach |
| IFT43intraflagellar transport 43 | Często (30–79%) | W 1 chorobie |
| IFT52intraflagellar transport 52 | Często (30–79%) | W 1 chorobie |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Często (30–79%) | W 1 chorobie |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Często (30–79%) | W 1 chorobie |
| NDE1nudE neurodevelopment protein 1 | Często (30–79%) | W 1 chorobie |
| PDGFRBplatelet derived growth factor receptor beta | Często (30–79%) | W 1 chorobie |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Często (30–79%) | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Często (30–79%) | W 1 chorobie |
| QARS1glutaminyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Często (30–79%) | W 1 chorobie |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Często (30–79%) | W 1 chorobie |
| RAD21RAD21 cohesin complex component | Często (30–79%) | W 1 chorobie |
| SHPKsedoheptulokinase | Często (30–79%) | W 1 chorobie |
| SLC4A10solute carrier family 4 member 10 | Często (30–79%) | W 1 chorobie |
| SUFUSUFU negative regulator of hedgehog signaling | Często (30–79%) | W 1 chorobie |
| TRAPPC9trafficking protein particle complex subunit 9 | Często (30–79%) | W 1 chorobie |
| WDR19WD repeat domain 19 | Często (30–79%) | W 1 chorobie |
| WDR35WD repeat domain 35 | Często (30–79%) | W 1 chorobie |
| WDR83OSWD repeat domain 83 opposite strand | Często (30–79%) | W 1 chorobie |
| AASSaminoadipate-semialdehyde synthase | Czasami (5–29%) | W 1 chorobie |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Czasami (5–29%) | W 1 chorobie |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Czasami (5–29%) | W 1 chorobie |
| CAPRIN1cell cycle associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| CLCN3Cl-/H+ antiporter 3 | Czasami (5–29%) | W 1 chorobie |
| CNOT1CCR4-NOT transcription complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| CNOT3CCR4-NOT transcription complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| CUX1cut like homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| DBR1debranching RNA lariats 1 | Czasami (5–29%) | W 1 chorobie |
| DDB1damage specific DNA binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Czasami (5–29%) | W 2 chorobach |
| ELNelastin | Czasami (5–29%) | W 1 chorobie |
| EPG5ectopic P-granules 5 autophagy tethering factor | Czasami (5–29%) | W 2 chorobach |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Czasami (5–29%) | W 1 chorobie |
| FANCD2FA complementation group D2 | Czasami (5–29%) | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Czasami (5–29%) | W 1 chorobie |
| FGFR3fibroblast growth factor receptor 3 | Czasami (5–29%) | W 1 chorobie |
| GATA2GATA binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| GNB2G protein subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| GON7GON7 subunit of KEOPS complex | Czasami (5–29%) | W 1 chorobie |
| GTF2E2general transcription factor IIE subunit 2 | Czasami (5–29%) | W 1 chorobie |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Czasami (5–29%) | W 1 chorobie |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Czasami (5–29%) | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Czasami (5–29%) | W 1 chorobie |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| KAT8lysine acetyltransferase 8 | Czasami (5–29%) | W 1 chorobie |
| KCTD1potassium channel tetramerization domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| KDM2Blysine demethylase 2B | Czasami (5–29%) | W 1 chorobie |
| KIF26Akinesin family member 26A | Czasami (5–29%) | W 1 chorobie |
| LAGE3L antigen family member 3 | Czasami (5–29%) | W 1 chorobie |
| MED16mediator complex subunit 16 | Czasami (5–29%) | W 1 chorobie |
| MLXIPLMLX interacting protein like | Czasami (5–29%) | W 1 chorobie |
| MPLKIPM-phase specific PLK1 interacting protein | Czasami (5–29%) | W 1 chorobie |
| MSL2MSL complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| MSX2msh homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| NF1neurofibromin 1 | Czasami (5–29%) | W 1 chorobie |
| NTNG2netrin G2 | Czasami (5–29%) | W 1 chorobie |
| NUP107nucleoporin 107 | Czasami (5–29%) | W 1 chorobie |
| NUP133nucleoporin 133 | Czasami (5–29%) | W 1 chorobie |
| OSGEPO-sialoglycoprotein endopeptidase | Czasami (5–29%) | W 1 chorobie |
| PDE4Dphosphodiesterase 4D | Czasami (5–29%) | W 1 chorobie |
| POLRMTRNA polymerase mitochondrial | Czasami (5–29%) | W 1 chorobie |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Czasami (5–29%) | W 2 chorobach |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Czasami (5–29%) | W 1 chorobie |
| PYCR1pyrroline-5-carboxylate reductase 1 | Czasami (5–29%) | W 1 chorobie |
| RECQL4RecQ like helicase 4 | Czasami (5–29%) | W 1 chorobie |
| REREarginine-glutamic acid dipeptide repeats | Czasami (5–29%) | W 1 chorobie |
| RNF113Aring finger protein 113A | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| RTTNrotatin | Czasami (5–29%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 1 chorobie |
| TARS1threonyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| TP53RKTP53 regulating kinase | Czasami (5–29%) | W 1 chorobie |
| TPRKBTP53RK binding protein | Czasami (5–29%) | W 1 chorobie |
| TRMT10AtRNA methyltransferase 10A | Czasami (5–29%) | W 1 chorobie |
| TWIST1twist family bHLH transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| WDR73WD repeat domain 73 | Czasami (5–29%) | W 1 chorobie |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Czasami (5–29%) | W 1 chorobie |
| ZNF699zinc finger protein 699 | Czasami (5–29%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Rzadko (1–4%) | W 1 chorobie |
| EBF3EBF transcription factor 3 | Rzadko (1–4%) | W 1 chorobie |
| GJA5gap junction protein alpha 5 | Rzadko (1–4%) | W 1 chorobie |
| GJA8gap junction protein alpha 8 | Rzadko (1–4%) | W 1 chorobie |
| NARS1asparaginyl-tRNA synthetase 1 | Rzadko (1–4%) | W 1 chorobie |
| PAHphenylalanine hydroxylase | Rzadko (1–4%) | W 1 chorobie |
| SMPD4sphingomyelin phosphodiesterase 4 | Rzadko (1–4%) | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Nie odnotowano | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Nie odnotowano | W 1 chorobie |
| BLTP1bridge-like lipid transfer protein family member 1 | Nie odnotowano | W 1 chorobie |
| EVCEvC ciliary complex subunit 1 | Nie odnotowano | W 1 chorobie |
| EVC2EvC ciliary complex subunit 2 | Nie odnotowano | W 1 chorobie |
| GSCgoosecoid homeobox | Nie odnotowano | W 1 chorobie |
| LIG4DNA ligase 4 | Nie odnotowano | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Nie odnotowano | W 1 chorobie |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Nie odnotowano | W 1 chorobie |
| OPHN1oligophrenin 1 | Nie odnotowano | W 1 chorobie |
| PROKR2prokineticin receptor 2 | Nie odnotowano | W 1 chorobie |
| RLIMring finger protein, LIM domain interacting | Nie odnotowano | W 1 chorobie |
| SEPTIN9septin 9 | Nie odnotowano | W 1 chorobie |
| SLC35A1solute carrier family 35 member A1 | Nie odnotowano | W 1 chorobie |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Nie odnotowano | W 1 chorobie |
| STIM1stromal interaction molecule 1 | Nie odnotowano | W 1 chorobie |
| TRRAPtransformation/transcription domain associated protein | Nie odnotowano | W 1 chorobie |
| USP9Xubiquitin specific peptidase 9 X-linked | 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 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
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