Piirre
Abnormally close eyes
Kliininen nimi: Hypotelorism
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Yhteenveto
- Tunnetaan myös nimellä
- Closely spaced eyes, Decreased distance between eye sockets, Decreased distance between eyes, Decreased interpupillary distance, Decreased orbital separation, Ocular hypotelorism
- Elimistön järjestelmä
- Abnormality of the eye
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
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Tilaa Genome Test157 geeniä, jotka liittyvät piirteeseen Abnormally close eyes
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Abnormally close eyes esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Aina | 1 sairaudessa |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Aina | 1 sairaudessa |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Aina | 1 sairaudessa |
| CEP57centrosomal protein 57 | Aina | 1 sairaudessa |
| CILK1ciliogenesis associated kinase 1 | Aina | 1 sairaudessa |
| COX14cytochrome c oxidase assembly factor COX14 | Aina | 1 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Aina | 6 sairaudessa |
| FKBP14FKBP prolyl isomerase 14 | Aina | 1 sairaudessa |
| GTF2H5general transcription factor IIH subunit 5 | Aina | 2 sairaudessa |
| KDM6Alysine demethylase 6A | Aina | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Aina | 1 sairaudessa |
| KMT2Dlysine methyltransferase 2D | Aina | 1 sairaudessa |
| NINninein | Aina | 2 sairaudessa |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Aina | 1 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Aina | 1 sairaudessa |
| RNU2-2RNA, U2 small nuclear 2 | Aina | 1 sairaudessa |
| SIX3SIX homeobox 3 | Aina | 6 sairaudessa |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Aina | 1 sairaudessa |
| XRCC4X-ray repair cross complementing 4 | Aina | 1 sairaudessa |
| CDONcell adhesion associated, oncogene regulated | Hyvin usein (80–99%) | 6 sairaudessa |
| CRIPTOcripto, EGF-CFC family member | Hyvin usein (80–99%) | 5 sairaudessa |
| DISP1dispatched RND transporter family member 1 | Hyvin usein (80–99%) | 5 sairaudessa |
| DLL1delta like canonical Notch ligand 1 | Hyvin usein (80–99%) | 5 sairaudessa |
| FGF8fibroblast growth factor 8 | Hyvin usein (80–99%) | 5 sairaudessa |
| FOXH1forkhead box H1 | Hyvin usein (80–99%) | 5 sairaudessa |
| GAS1growth arrest specific 1 | Hyvin usein (80–99%) | 5 sairaudessa |
| GLI2GLI family zinc finger 2 | Hyvin usein (80–99%) | 7 sairaudessa |
| NDPnorrin cystine knot growth factor NDP | Hyvin usein (80–99%) | 1 sairaudessa |
| NODALnodal growth differentiation factor | Hyvin usein (80–99%) | 5 sairaudessa |
| PLCH1phospholipase C eta 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PTCH1patched 1 | Hyvin usein (80–99%) | 6 sairaudessa |
| SHHsonic hedgehog signaling molecule | Hyvin usein (80–99%) | 7 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Hyvin usein (80–99%) | 2 sairaudessa |
| STAG2STAG2 cohesin complex component | Hyvin usein (80–99%) | 2 sairaudessa |
| STILSTIL centriolar assembly protein | Hyvin usein (80–99%) | 4 sairaudessa |
| TGIF1TGFB induced factor homeobox 1 | Hyvin usein (80–99%) | 6 sairaudessa |
| ZIC2Zic family zinc finger 2 | Hyvin usein (80–99%) | 6 sairaudessa |
| AARS1alanyl-tRNA synthetase 1 | Usein (30–79%) | 2 sairaudessa |
| ABCC9ATP binding cassette subfamily C member 9 | Usein (30–79%) | 1 sairaudessa |
| ARCN1archain 1 coat protein complex I subunit delta | Usein (30–79%) | 1 sairaudessa |
Näytä 117 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| CCDC32coiled-coil domain containing 32 | Usein (30–79%) | 1 sairaudessa |
| CDK19cyclin dependent kinase 19 | Usein (30–79%) | 1 sairaudessa |
| DCLRE1BDNA cross-link repair 1B | Usein (30–79%) | 1 sairaudessa |
| DPYSL5dihydropyrimidinase like 5 | Usein (30–79%) | 1 sairaudessa |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Usein (30–79%) | 1 sairaudessa |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Usein (30–79%) | 1 sairaudessa |
| FREM1FRAS1 related extracellular matrix 1 | Usein (30–79%) | 1 sairaudessa |
| GGT1gamma-glutamyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| GJA1gap junction protein alpha 1 | Usein (30–79%) | 1 sairaudessa |
| GPT2glutamic--pyruvic transaminase 2 | Usein (30–79%) | 2 sairaudessa |
| IFT122intraflagellar transport 122 | Usein (30–79%) | 2 sairaudessa |
| IFT43intraflagellar transport 43 | Usein (30–79%) | 1 sairaudessa |
| IFT52intraflagellar transport 52 | Usein (30–79%) | 1 sairaudessa |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Usein (30–79%) | 1 sairaudessa |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Usein (30–79%) | 1 sairaudessa |
| NDE1nudE neurodevelopment protein 1 | Usein (30–79%) | 1 sairaudessa |
| PDGFRBplatelet derived growth factor receptor beta | Usein (30–79%) | 1 sairaudessa |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Usein (30–79%) | 1 sairaudessa |
| POLR3ARNA polymerase III subunit A | Usein (30–79%) | 1 sairaudessa |
| QARS1glutaminyl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Usein (30–79%) | 1 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Usein (30–79%) | 1 sairaudessa |
| RAD21RAD21 cohesin complex component | Usein (30–79%) | 1 sairaudessa |
| SHPKsedoheptulokinase | Usein (30–79%) | 1 sairaudessa |
| SLC4A10solute carrier family 4 member 10 | Usein (30–79%) | 1 sairaudessa |
| SUFUSUFU negative regulator of hedgehog signaling | Usein (30–79%) | 1 sairaudessa |
| TRAPPC9trafficking protein particle complex subunit 9 | Usein (30–79%) | 1 sairaudessa |
| WDR19WD repeat domain 19 | Usein (30–79%) | 1 sairaudessa |
| WDR35WD repeat domain 35 | Usein (30–79%) | 1 sairaudessa |
| WDR83OSWD repeat domain 83 opposite strand | Usein (30–79%) | 1 sairaudessa |
| AASSaminoadipate-semialdehyde synthase | Joskus (5–29%) | 1 sairaudessa |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Joskus (5–29%) | 1 sairaudessa |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Joskus (5–29%) | 1 sairaudessa |
| CAPRIN1cell cycle associated protein 1 | Joskus (5–29%) | 1 sairaudessa |
| CARS1cysteinyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| CLCN3Cl-/H+ antiporter 3 | Joskus (5–29%) | 1 sairaudessa |
| CNOT1CCR4-NOT transcription complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| CNOT3CCR4-NOT transcription complex subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| CUX1cut like homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| DBR1debranching RNA lariats 1 | Joskus (5–29%) | 1 sairaudessa |
| DDB1damage specific DNA binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Joskus (5–29%) | 2 sairaudessa |
| ELNelastin | Joskus (5–29%) | 1 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Joskus (5–29%) | 2 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Joskus (5–29%) | 1 sairaudessa |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Joskus (5–29%) | 1 sairaudessa |
| FANCD2FA complementation group D2 | Joskus (5–29%) | 1 sairaudessa |
| FGFR2fibroblast growth factor receptor 2 | Joskus (5–29%) | 1 sairaudessa |
| FGFR3fibroblast growth factor receptor 3 | Joskus (5–29%) | 1 sairaudessa |
| GATA2GATA binding protein 2 | Joskus (5–29%) | 1 sairaudessa |
| GNB2G protein subunit beta 2 | Joskus (5–29%) | 1 sairaudessa |
| GON7GON7 subunit of KEOPS complex | Joskus (5–29%) | 1 sairaudessa |
| GTF2E2general transcription factor IIE subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Joskus (5–29%) | 1 sairaudessa |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Joskus (5–29%) | 1 sairaudessa |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Joskus (5–29%) | 1 sairaudessa |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| KAT8lysine acetyltransferase 8 | Joskus (5–29%) | 1 sairaudessa |
| KCTD1potassium channel tetramerization domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| KDM2Blysine demethylase 2B | Joskus (5–29%) | 1 sairaudessa |
| KIF26Akinesin family member 26A | Joskus (5–29%) | 1 sairaudessa |
| LAGE3L antigen family member 3 | Joskus (5–29%) | 1 sairaudessa |
| MED16mediator complex subunit 16 | Joskus (5–29%) | 1 sairaudessa |
| MLXIPLMLX interacting protein like | Joskus (5–29%) | 1 sairaudessa |
| MPLKIPM-phase specific PLK1 interacting protein | Joskus (5–29%) | 1 sairaudessa |
| MSL2MSL complex subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| MSX2msh homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| NF1neurofibromin 1 | Joskus (5–29%) | 1 sairaudessa |
| NTNG2netrin G2 | Joskus (5–29%) | 1 sairaudessa |
| NUP107nucleoporin 107 | Joskus (5–29%) | 1 sairaudessa |
| NUP133nucleoporin 133 | Joskus (5–29%) | 1 sairaudessa |
| OSGEPO-sialoglycoprotein endopeptidase | Joskus (5–29%) | 1 sairaudessa |
| PDE4Dphosphodiesterase 4D | Joskus (5–29%) | 1 sairaudessa |
| POLRMTRNA polymerase mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Joskus (5–29%) | 2 sairaudessa |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Joskus (5–29%) | 1 sairaudessa |
| PYCR1pyrroline-5-carboxylate reductase 1 | Joskus (5–29%) | 1 sairaudessa |
| RECQL4RecQ like helicase 4 | Joskus (5–29%) | 1 sairaudessa |
| REREarginine-glutamic acid dipeptide repeats | Joskus (5–29%) | 1 sairaudessa |
| RNF113Aring finger protein 113A | Joskus (5–29%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Joskus (5–29%) | 1 sairaudessa |
| RTTNrotatin | Joskus (5–29%) | 1 sairaudessa |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Joskus (5–29%) | 1 sairaudessa |
| TARS1threonyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| TP53RKTP53 regulating kinase | Joskus (5–29%) | 1 sairaudessa |
| TPRKBTP53RK binding protein | Joskus (5–29%) | 1 sairaudessa |
| TRMT10AtRNA methyltransferase 10A | Joskus (5–29%) | 1 sairaudessa |
| TWIST1twist family bHLH transcription factor 1 | Joskus (5–29%) | 1 sairaudessa |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| WDR73WD repeat domain 73 | Joskus (5–29%) | 1 sairaudessa |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Joskus (5–29%) | 1 sairaudessa |
| ZNF699zinc finger protein 699 | Joskus (5–29%) | 1 sairaudessa |
| CTCFCCCTC-binding factor | Harvinainen (1–4 %) | 1 sairaudessa |
| EBF3EBF transcription factor 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| GJA5gap junction protein alpha 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| GJA8gap junction protein alpha 8 | Harvinainen (1–4 %) | 1 sairaudessa |
| NARS1asparaginyl-tRNA synthetase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| PAHphenylalanine hydroxylase | Harvinainen (1–4 %) | 1 sairaudessa |
| SMPD4sphingomyelin phosphodiesterase 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ei kirjattu | 1 sairaudessa |
| ARID1BAT-rich interaction domain 1B | Ei kirjattu | 1 sairaudessa |
| BLTP1bridge-like lipid transfer protein family member 1 | Ei kirjattu | 1 sairaudessa |
| EVCEvC ciliary complex subunit 1 | Ei kirjattu | 1 sairaudessa |
| EVC2EvC ciliary complex subunit 2 | Ei kirjattu | 1 sairaudessa |
| GSCgoosecoid homeobox | Ei kirjattu | 1 sairaudessa |
| LIG4DNA ligase 4 | Ei kirjattu | 1 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Ei kirjattu | 1 sairaudessa |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ei kirjattu | 1 sairaudessa |
| OPHN1oligophrenin 1 | Ei kirjattu | 1 sairaudessa |
| PROKR2prokineticin receptor 2 | Ei kirjattu | 1 sairaudessa |
| RLIMring finger protein, LIM domain interacting | Ei kirjattu | 1 sairaudessa |
| SEPTIN9septin 9 | Ei kirjattu | 1 sairaudessa |
| SLC35A1solute carrier family 35 member A1 | Ei kirjattu | 1 sairaudessa |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Ei kirjattu | 1 sairaudessa |
| STIM1stromal interaction molecule 1 | Ei kirjattu | 1 sairaudessa |
| TRRAPtransformation/transcription domain associated protein | Ei kirjattu | 1 sairaudessa |
| USP9Xubiquitin specific peptidase 9 X-linked | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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