Træk
Abnormally close eyes
Klinisk navn: Hypotelorism
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Resumé
- Også kaldet
- Closely spaced eyes, Decreased distance between eye sockets, Decreased distance between eyes, Decreased interpupillary distance, Decreased orbital separation, Ocular hypotelorism
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test157 gener knyttet til Abnormally close eyes
Ændringer i disse gener forårsager sjældne tilstande, hvor Abnormally close eyes ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Altid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altid | I 1 tilstand |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Altid | I 1 tilstand |
| CEP57centrosomal protein 57 | Altid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Altid | I 1 tilstand |
| COX14cytochrome c oxidase assembly factor COX14 | Altid | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Altid | I 6 tilstande |
| FKBP14FKBP prolyl isomerase 14 | Altid | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Altid | I 2 tilstande |
| KDM6Alysine demethylase 6A | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Altid | I 1 tilstand |
| NINninein | Altid | I 2 tilstande |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| SIX3SIX homeobox 3 | Altid | I 6 tilstande |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altid | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Altid | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Meget ofte (80–99 %) | I 6 tilstande |
| CRIPTOcripto, EGF-CFC family member | Meget ofte (80–99 %) | I 5 tilstande |
| DISP1dispatched RND transporter family member 1 | Meget ofte (80–99 %) | I 5 tilstande |
| DLL1delta like canonical Notch ligand 1 | Meget ofte (80–99 %) | I 5 tilstande |
| FGF8fibroblast growth factor 8 | Meget ofte (80–99 %) | I 5 tilstande |
| FOXH1forkhead box H1 | Meget ofte (80–99 %) | I 5 tilstande |
| GAS1growth arrest specific 1 | Meget ofte (80–99 %) | I 5 tilstande |
| GLI2GLI family zinc finger 2 | Meget ofte (80–99 %) | I 7 tilstande |
| NDPnorrin cystine knot growth factor NDP | Meget ofte (80–99 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Meget ofte (80–99 %) | I 5 tilstande |
| PLCH1phospholipase C eta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PTCH1patched 1 | Meget ofte (80–99 %) | I 6 tilstande |
| SHHsonic hedgehog signaling molecule | Meget ofte (80–99 %) | I 7 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Meget ofte (80–99 %) | I 2 tilstande |
| STAG2STAG2 cohesin complex component | Meget ofte (80–99 %) | I 2 tilstande |
| STILSTIL centriolar assembly protein | Meget ofte (80–99 %) | I 4 tilstande |
| TGIF1TGFB induced factor homeobox 1 | Meget ofte (80–99 %) | I 6 tilstande |
| ZIC2Zic family zinc finger 2 | Meget ofte (80–99 %) | I 6 tilstande |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Ofte (30–79 %) | I 1 tilstand |
Vis 117 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CCDC32coiled-coil domain containing 32 | Ofte (30–79 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Ofte (30–79 %) | I 1 tilstand |
| DCLRE1BDNA cross-link repair 1B | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Ofte (30–79 %) | I 1 tilstand |
| FREM1FRAS1 related extracellular matrix 1 | Ofte (30–79 %) | I 1 tilstand |
| GGT1gamma-glutamyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| GPT2glutamic--pyruvic transaminase 2 | Ofte (30–79 %) | I 2 tilstande |
| IFT122intraflagellar transport 122 | Ofte (30–79 %) | I 2 tilstande |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| IFT52intraflagellar transport 52 | Ofte (30–79 %) | I 1 tilstand |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Ofte (30–79 %) | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ofte (30–79 %) | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 1 tilstand |
| QARS1glutaminyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| SHPKsedoheptulokinase | Ofte (30–79 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Ofte (30–79 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Ofte (30–79 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Ofte (30–79 %) | I 1 tilstand |
| WDR35WD repeat domain 35 | Ofte (30–79 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Ofte (30–79 %) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Nogle gange (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Nogle gange (5–29 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CNOT1CCR4-NOT transcription complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CUX1cut like homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDB1damage specific DNA binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Nogle gange (5–29 %) | I 2 tilstande |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GATA2GATA binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GON7GON7 subunit of KEOPS complex | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Nogle gange (5–29 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KAT8lysine acetyltransferase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Nogle gange (5–29 %) | I 1 tilstand |
| LAGE3L antigen family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Nogle gange (5–29 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MSX2msh homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NTNG2netrin G2 | Nogle gange (5–29 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Nogle gange (5–29 %) | I 1 tilstand |
| NUP133nucleoporin 133 | Nogle gange (5–29 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Nogle gange (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Nogle gange (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 2 tilstande |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RTTNrotatin | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TPRKBTP53RK binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Nogle gange (5–29 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Nogle gange (5–29 %) | I 1 tilstand |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Sjældent (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjældent (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjældent (1–4%) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Sjældent (1–4%) | I 1 tilstand |
| PAHphenylalanine hydroxylase | Sjældent (1–4%) | I 1 tilstand |
| SMPD4sphingomyelin phosphodiesterase 4 | Sjældent (1–4%) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registreret | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ikke registreret | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registreret | I 1 tilstand |
| EVCEvC ciliary complex subunit 1 | Ikke registreret | I 1 tilstand |
| EVC2EvC ciliary complex subunit 2 | Ikke registreret | I 1 tilstand |
| GSCgoosecoid homeobox | Ikke registreret | I 1 tilstand |
| LIG4DNA ligase 4 | Ikke registreret | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ikke registreret | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ikke registreret | I 1 tilstand |
| OPHN1oligophrenin 1 | Ikke registreret | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Ikke registreret | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registreret | I 1 tilstand |
| SEPTIN9septin 9 | Ikke registreret | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registreret | I 1 tilstand |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Ikke registreret | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registreret | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger