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Kenmerk
Abnormally close eyes
Klinische naam: Hypotelorism
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Samenvatting
- Ook bekend als
- Closely spaced eyes, Decreased distance between eye sockets, Decreased distance between eyes, Decreased interpupillary distance, Decreased orbital separation, Ocular hypotelorism
- Lichaamssysteem
- Abnormality of the eye
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Deze pagina als gegevens
Voeg .json toe aan het adres van de pagina, of vraag application/json aan, om haar als JSON te lezen.
library(jsonlite)
url <- "https://dantelabs.com/traits/hypotelorism.json"
page <- fromJSON(url)
page$trait$nameAbnormally close eyesHP:0000601
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Lees de genen die aan Abnormally close eyes gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen81 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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Lees de genen die aan Abnormally close eyes gekoppeld zijn, en de rest van uw genoom, met één test.
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Mijn Genome Test bestellen157 genen gekoppeld aan Abnormally close eyes
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Abnormally close eyes voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Altijd | In 1 aandoening |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altijd | In 1 aandoening |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Altijd | In 1 aandoening |
| CEP57centrosomal protein 57 | Altijd | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Altijd | In 1 aandoening |
| COX14cytochrome c oxidase assembly factor COX14 | Altijd | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Altijd | In 6 aandoeningen |
| FKBP14FKBP prolyl isomerase 14 | Altijd | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Altijd | In 2 aandoeningen |
| KDM6Alysine demethylase 6A | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Altijd | In 1 aandoening |
| NINninein | Altijd | In 2 aandoeningen |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altijd | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| SIX3SIX homeobox 3 | Altijd | In 6 aandoeningen |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altijd | In 1 aandoening |
| XRCC4X-ray repair cross complementing 4 | Altijd | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Heel vaak (80–99%) | In 6 aandoeningen |
| CRIPTOcripto, EGF-CFC family member | Heel vaak (80–99%) | In 5 aandoeningen |
| DISP1dispatched RND transporter family member 1 | Heel vaak (80–99%) | In 5 aandoeningen |
| DLL1delta like canonical Notch ligand 1 | Heel vaak (80–99%) | In 5 aandoeningen |
| FGF8fibroblast growth factor 8 | Heel vaak (80–99%) | In 5 aandoeningen |
| FOXH1forkhead box H1 | Heel vaak (80–99%) | In 5 aandoeningen |
| GAS1growth arrest specific 1 | Heel vaak (80–99%) | In 5 aandoeningen |
| GLI2GLI family zinc finger 2 | Heel vaak (80–99%) | In 7 aandoeningen |
| NDPnorrin cystine knot growth factor NDP | Heel vaak (80–99%) | In 1 aandoening |
| NODALnodal growth differentiation factor | Heel vaak (80–99%) | In 5 aandoeningen |
| PLCH1phospholipase C eta 1 | Heel vaak (80–99%) | In 1 aandoening |
| PTCH1patched 1 | Heel vaak (80–99%) | In 6 aandoeningen |
| SHHsonic hedgehog signaling molecule | Heel vaak (80–99%) | In 7 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Heel vaak (80–99%) | In 2 aandoeningen |
| STAG2STAG2 cohesin complex component | Heel vaak (80–99%) | In 2 aandoeningen |
| STILSTIL centriolar assembly protein | Heel vaak (80–99%) | In 4 aandoeningen |
| TGIF1TGFB induced factor homeobox 1 | Heel vaak (80–99%) | In 6 aandoeningen |
| ZIC2Zic family zinc finger 2 | Heel vaak (80–99%) | In 6 aandoeningen |
| AARS1alanyl-tRNA synthetase 1 | Vaak (30–79%) | In 2 aandoeningen |
| ABCC9ATP binding cassette subfamily C member 9 | Vaak (30–79%) | In 1 aandoening |
| ARCN1archain 1 coat protein complex I subunit delta | Vaak (30–79%) | In 1 aandoening |
Toon nog 117 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| CCDC32coiled-coil domain containing 32 | Vaak (30–79%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Vaak (30–79%) | In 1 aandoening |
| DCLRE1BDNA cross-link repair 1B | Vaak (30–79%) | In 1 aandoening |
| DPYSL5dihydropyrimidinase like 5 | Vaak (30–79%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Vaak (30–79%) | In 1 aandoening |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Vaak (30–79%) | In 1 aandoening |
| FREM1FRAS1 related extracellular matrix 1 | Vaak (30–79%) | In 1 aandoening |
| GGT1gamma-glutamyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Vaak (30–79%) | In 1 aandoening |
| GPT2glutamic--pyruvic transaminase 2 | Vaak (30–79%) | In 2 aandoeningen |
| IFT122intraflagellar transport 122 | Vaak (30–79%) | In 2 aandoeningen |
| IFT43intraflagellar transport 43 | Vaak (30–79%) | In 1 aandoening |
| IFT52intraflagellar transport 52 | Vaak (30–79%) | In 1 aandoening |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Vaak (30–79%) | In 1 aandoening |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Vaak (30–79%) | In 1 aandoening |
| NDE1nudE neurodevelopment protein 1 | Vaak (30–79%) | In 1 aandoening |
| PDGFRBplatelet derived growth factor receptor beta | Vaak (30–79%) | In 1 aandoening |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Vaak (30–79%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 1 aandoening |
| QARS1glutaminyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Vaak (30–79%) | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Vaak (30–79%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Vaak (30–79%) | In 1 aandoening |
| SHPKsedoheptulokinase | Vaak (30–79%) | In 1 aandoening |
| SLC4A10solute carrier family 4 member 10 | Vaak (30–79%) | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Vaak (30–79%) | In 1 aandoening |
| TRAPPC9trafficking protein particle complex subunit 9 | Vaak (30–79%) | In 1 aandoening |
| WDR19WD repeat domain 19 | Vaak (30–79%) | In 1 aandoening |
| WDR35WD repeat domain 35 | Vaak (30–79%) | In 1 aandoening |
| WDR83OSWD repeat domain 83 opposite strand | Vaak (30–79%) | In 1 aandoening |
| AASSaminoadipate-semialdehyde synthase | Soms (5–29%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Soms (5–29%) | In 1 aandoening |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Soms (5–29%) | In 1 aandoening |
| CAPRIN1cell cycle associated protein 1 | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CLCN3Cl-/H+ antiporter 3 | Soms (5–29%) | In 1 aandoening |
| CNOT1CCR4-NOT transcription complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| CNOT3CCR4-NOT transcription complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| CUX1cut like homeobox 1 | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DDB1damage specific DNA binding protein 1 | Soms (5–29%) | In 1 aandoening |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Soms (5–29%) | In 2 aandoeningen |
| ELNelastin | Soms (5–29%) | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Soms (5–29%) | In 2 aandoeningen |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Soms (5–29%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Soms (5–29%) | In 1 aandoening |
| GATA2GATA binding protein 2 | Soms (5–29%) | In 1 aandoening |
| GNB2G protein subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| GON7GON7 subunit of KEOPS complex | Soms (5–29%) | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Soms (5–29%) | In 1 aandoening |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Soms (5–29%) | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Soms (5–29%) | In 1 aandoening |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| KAT8lysine acetyltransferase 8 | Soms (5–29%) | In 1 aandoening |
| KCTD1potassium channel tetramerization domain containing 1 | Soms (5–29%) | In 1 aandoening |
| KDM2Blysine demethylase 2B | Soms (5–29%) | In 1 aandoening |
| KIF26Akinesin family member 26A | Soms (5–29%) | In 1 aandoening |
| LAGE3L antigen family member 3 | Soms (5–29%) | In 1 aandoening |
| MED16mediator complex subunit 16 | Soms (5–29%) | In 1 aandoening |
| MLXIPLMLX interacting protein like | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MSL2MSL complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| MSX2msh homeobox 2 | Soms (5–29%) | In 1 aandoening |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| NTNG2netrin G2 | Soms (5–29%) | In 1 aandoening |
| NUP107nucleoporin 107 | Soms (5–29%) | In 1 aandoening |
| NUP133nucleoporin 133 | Soms (5–29%) | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Soms (5–29%) | In 1 aandoening |
| PDE4Dphosphodiesterase 4D | Soms (5–29%) | In 1 aandoening |
| POLRMTRNA polymerase mitochondrial | Soms (5–29%) | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Soms (5–29%) | In 2 aandoeningen |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Soms (5–29%) | In 1 aandoening |
| PYCR1pyrroline-5-carboxylate reductase 1 | Soms (5–29%) | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RTTNrotatin | Soms (5–29%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TP53RKTP53 regulating kinase | Soms (5–29%) | In 1 aandoening |
| TPRKBTP53RK binding protein | Soms (5–29%) | In 1 aandoening |
| TRMT10AtRNA methyltransferase 10A | Soms (5–29%) | In 1 aandoening |
| TWIST1twist family bHLH transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Soms (5–29%) | In 1 aandoening |
| WDR73WD repeat domain 73 | Soms (5–29%) | In 1 aandoening |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Zelden (1–4%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Zelden (1–4%) | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Zelden (1–4%) | In 1 aandoening |
| GJA8gap junction protein alpha 8 | Zelden (1–4%) | In 1 aandoening |
| NARS1asparaginyl-tRNA synthetase 1 | Zelden (1–4%) | In 1 aandoening |
| PAHphenylalanine hydroxylase | Zelden (1–4%) | In 1 aandoening |
| SMPD4sphingomyelin phosphodiesterase 4 | Zelden (1–4%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Niet vastgelegd | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Niet vastgelegd | In 1 aandoening |
| BLTP1bridge-like lipid transfer protein family member 1 | Niet vastgelegd | In 1 aandoening |
| EVCEvC ciliary complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| EVC2EvC ciliary complex subunit 2 | Niet vastgelegd | In 1 aandoening |
| GSCgoosecoid homeobox | Niet vastgelegd | In 1 aandoening |
| LIG4DNA ligase 4 | Niet vastgelegd | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| OPHN1oligophrenin 1 | Niet vastgelegd | In 1 aandoening |
| PROKR2prokineticin receptor 2 | Niet vastgelegd | In 1 aandoening |
| RLIMring finger protein, LIM domain interacting | Niet vastgelegd | In 1 aandoening |
| SEPTIN9septin 9 | Niet vastgelegd | In 1 aandoening |
| SLC35A1solute carrier family 35 member A1 | Niet vastgelegd | In 1 aandoening |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Niet vastgelegd | In 1 aandoening |
| STIM1stromal interaction molecule 1 | Niet vastgelegd | In 1 aandoening |
| TRRAPtransformation/transcription domain associated protein | Niet vastgelegd | In 1 aandoening |
| USP9Xubiquitin specific peptidase 9 X-linked | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.19-9814e911.
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