Piirre
Full lips
Kliininen nimi: Thick vermilion border
Increased width of the skin of vermilion border region of upper lip.
Yhteenveto
- Tunnetaan myös nimellä
- Increased volume of lip, Plump lips, Prominent lips, Thick lips, Increased volume of lip vermillion
- Elimistön järjestelmä
- Abnormality of head or neck
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
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Tilaa Genome Test171 geeniä, jotka liittyvät piirteeseen Full lips
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Full lips 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 |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Aina | 1 sairaudessa |
| ANTXR1ANTXR cell adhesion molecule 1 | Aina | 1 sairaudessa |
| ARID1AAT-rich interaction domain 1A | Aina | 1 sairaudessa |
| ATRXATRX chromatin remodeler | Aina | 1 sairaudessa |
| AUTS2activator of transcription and developmental regulator AUTS2 | Aina | 1 sairaudessa |
| BCAS3BCAS3 microtubule associated cell migration factor | Aina | 1 sairaudessa |
| CCDC47coiled-coil domain containing 47 | Aina | 1 sairaudessa |
| CDC6cell division cycle 6 | Aina | 2 sairaudessa |
| CITcitron rho-interacting serine/threonine kinase | Aina | 1 sairaudessa |
| DONSONDNA replication fork stabilization factor DONSON | Aina | 1 sairaudessa |
| EDAectodysplasin A | Aina | 1 sairaudessa |
| ERFETS2 repressor factor | Aina | 1 sairaudessa |
| EXOSC1exosome component 1 | Aina | 1 sairaudessa |
| FBXO11F-box protein 11 | Aina | 1 sairaudessa |
| FBXO31F-box protein 31 | Aina | 1 sairaudessa |
| FIBPFGF1 intracellular binding protein | Aina | 2 sairaudessa |
| GMNNgeminin DNA replication inhibitor | Aina | 2 sairaudessa |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Aina | 1 sairaudessa |
| GTPBP2GTP binding protein 2 | Aina | 1 sairaudessa |
| IDUAalpha-L-iduronidase | Aina | 4 sairaudessa |
| IFT52intraflagellar transport 52 | Aina | 1 sairaudessa |
| INSRinsulin receptor | Aina | 2 sairaudessa |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Aina | 3 sairaudessa |
| KDM6Blysine demethylase 6B | Aina | 1 sairaudessa |
| MCM5minichromosome maintenance complex component 5 | Aina | 1 sairaudessa |
| MED16mediator complex subunit 16 | Aina | 1 sairaudessa |
| MRASmuscle RAS oncogene homolog | Aina | 1 sairaudessa |
| NAV3neuron navigator 3 | Aina | 1 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Aina | 1 sairaudessa |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Aina | 1 sairaudessa |
| ORC6origin recognition complex subunit 6 | Aina | 2 sairaudessa |
| RBL2RB transcriptional corepressor like 2 | Aina | 1 sairaudessa |
| RIN2Ras and Rab interactor 2 | Aina | 1 sairaudessa |
| RNU4ATACRNA, U4atac small nuclear | Aina | 2 sairaudessa |
| SEC31ASEC31 homolog A, COPII component | Aina | 1 sairaudessa |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Aina | 1 sairaudessa |
| SNX14sorting nexin 14 | Aina | 2 sairaudessa |
| SRD5A3steroid 5 alpha-reductase 3 | Aina | 1 sairaudessa |
| TAF4TATA-box binding protein associated factor 4 | Aina | 1 sairaudessa |
| TSPEARthrombospondin type laminin G domain and EAR repeats | Aina | 1 sairaudessa |
Näytä 131 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| VPS13Bvacuolar protein sorting 13 homolog B | Aina | 1 sairaudessa |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Aina | 1 sairaudessa |
| ABCC9ATP binding cassette subfamily C member 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| AGAaspartylglucosaminidase | Hyvin usein (80–99%) | 1 sairaudessa |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Hyvin usein (80–99%) | 1 sairaudessa |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Hyvin usein (80–99%) | 2 sairaudessa |
| RSPRY1ring finger and SPRY domain containing 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SH3PXD2BSH3 and PX domains 2B | Hyvin usein (80–99%) | 1 sairaudessa |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TCF4transcription factor 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| TFAP2Btranscription factor AP-2 beta | Hyvin usein (80–99%) | 1 sairaudessa |
| ACSL4acyl-CoA synthetase long chain family member 4 | Usein (30–79%) | 1 sairaudessa |
| AFF2ALF transcription elongation factor 2 | Usein (30–79%) | 2 sairaudessa |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Usein (30–79%) | 1 sairaudessa |
| AIPAHR interacting HSP90 co-chaperone | Usein (30–79%) | 1 sairaudessa |
| AMMECR1AMMECR nuclear protein 1 | Usein (30–79%) | 1 sairaudessa |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Usein (30–79%) | 1 sairaudessa |
| BORCS8BLOC-1 related complex subunit 8 | Usein (30–79%) | 1 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Usein (30–79%) | 2 sairaudessa |
| CBLCbl proto-oncogene | Usein (30–79%) | 1 sairaudessa |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Usein (30–79%) | 1 sairaudessa |
| CDKL5cyclin dependent kinase like 5 | Usein (30–79%) | 1 sairaudessa |
| CNTNAP1contactin associated protein 1 | Usein (30–79%) | 1 sairaudessa |
| CNTNAP2contactin associated protein 2 | Usein (30–79%) | 1 sairaudessa |
| COG6component of oligomeric golgi complex 6 | Usein (30–79%) | 1 sairaudessa |
| DOCK7dedicator of cytokinesis 7 | Usein (30–79%) | 2 sairaudessa |
| ERMARDER membrane associated RNA degradation | Usein (30–79%) | 1 sairaudessa |
| EXOSC5exosome component 5 | Usein (30–79%) | 1 sairaudessa |
| FHL1four and a half LIM domains 1 | Usein (30–79%) | 1 sairaudessa |
| FLNAfilamin A | Usein (30–79%) | 2 sairaudessa |
| FOXP1forkhead box P1 | Usein (30–79%) | 1 sairaudessa |
| FRA10AC1FRA10A associated CGG repeat 1 | Usein (30–79%) | 1 sairaudessa |
| GNSglucosamine (N-acetyl)-6-sulfatase | Usein (30–79%) | 1 sairaudessa |
| GPC3glypican 3 | Usein (30–79%) | 1 sairaudessa |
| GPR101G protein-coupled receptor 101 | Usein (30–79%) | 1 sairaudessa |
| GTPBP1GTP binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| JARID2jumonji and AT-rich interaction domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Usein (30–79%) | 1 sairaudessa |
| KCNK9potassium two pore domain channel subfamily K member 9 | Usein (30–79%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Usein (30–79%) | 1 sairaudessa |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Usein (30–79%) | 2 sairaudessa |
| LTBP3latent transforming growth factor beta binding protein 3 | Usein (30–79%) | 1 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Usein (30–79%) | 1 sairaudessa |
| MAP2K2mitogen-activated protein kinase kinase 2 | Usein (30–79%) | 1 sairaudessa |
| MARK2microtubule affinity regulating kinase 2 | Usein (30–79%) | 1 sairaudessa |
| MED12mediator complex subunit 12 | Usein (30–79%) | 1 sairaudessa |
| NAGAalpha-N-acetylgalactosaminidase | Usein (30–79%) | 1 sairaudessa |
| NF1neurofibromin 1 | Usein (30–79%) | 2 sairaudessa |
| NFIXnuclear factor I X | Usein (30–79%) | 1 sairaudessa |
| OBSL1obscurin like cytoskeletal adaptor 1 | Usein (30–79%) | 1 sairaudessa |
| ORC1origin recognition complex subunit 1 | Usein (30–79%) | 2 sairaudessa |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Usein (30–79%) | 1 sairaudessa |
| PRIM1DNA primase subunit 1 | Usein (30–79%) | 1 sairaudessa |
| PTDSS1phosphatidylserine synthase 1 | Usein (30–79%) | 1 sairaudessa |
| PUS7pseudouridine synthase 7 | Usein (30–79%) | 1 sairaudessa |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Usein (30–79%) | 1 sairaudessa |
| RNF2ring finger protein 2 | Usein (30–79%) | 1 sairaudessa |
| RNU12RNA, U12 small nuclear | Usein (30–79%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Usein (30–79%) | 1 sairaudessa |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Usein (30–79%) | 1 sairaudessa |
| SOX11SRY-box transcription factor 11 | Usein (30–79%) | 1 sairaudessa |
| SOX4SRY-box transcription factor 4 | Usein (30–79%) | 1 sairaudessa |
| STAG2STAG2 cohesin complex component | Usein (30–79%) | 1 sairaudessa |
| TFE3transcription factor binding to IGHM enhancer 3 | Usein (30–79%) | 1 sairaudessa |
| TRIOtrio Rho guanine nucleotide exchange factor | Usein (30–79%) | 1 sairaudessa |
| WDR26WD repeat domain 26 | Usein (30–79%) | 1 sairaudessa |
| XYLT1xylosyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| ADAT3adenosine deaminase tRNA specific 3 | Joskus (5–29%) | 1 sairaudessa |
| ANKRD11ankyrin repeat domain 11 | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Joskus (5–29%) | 1 sairaudessa |
| CDC45cell division cycle 45 | Joskus (5–29%) | 1 sairaudessa |
| CDT1chromatin licensing and DNA replication factor 1 | Joskus (5–29%) | 1 sairaudessa |
| DLK1delta like non-canonical Notch ligand 1 | Joskus (5–29%) | 1 sairaudessa |
| DOT1LDOT1 like histone lysine methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| DPYSL5dihydropyrimidinase like 5 | Joskus (5–29%) | 1 sairaudessa |
| EDARectodysplasin A receptor | Joskus (5–29%) | 2 sairaudessa |
| EDARADDEDAR associated via death domain | Joskus (5–29%) | 2 sairaudessa |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Joskus (5–29%) | 1 sairaudessa |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| GTF3C3general transcription factor IIIC subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| H4C5H4 clustered histone 5 | Joskus (5–29%) | 1 sairaudessa |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Joskus (5–29%) | 1 sairaudessa |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Joskus (5–29%) | 1 sairaudessa |
| KAT8lysine acetyltransferase 8 | Joskus (5–29%) | 1 sairaudessa |
| KDF1keratinocyte differentiation factor 1 | Joskus (5–29%) | 1 sairaudessa |
| KDM2Blysine demethylase 2B | Joskus (5–29%) | 1 sairaudessa |
| KIF11kinesin family member 11 | Joskus (5–29%) | 1 sairaudessa |
| KIF15kinesin family member 15 | Joskus (5–29%) | 1 sairaudessa |
| KIF7kinesin family member 7 | Joskus (5–29%) | 1 sairaudessa |
| KREMEN1kringle containing transmembrane protein 1 | Joskus (5–29%) | 1 sairaudessa |
| LRP6LDL receptor related protein 6 | Joskus (5–29%) | 1 sairaudessa |
| MADDMAP kinase activating death domain | Joskus (5–29%) | 1 sairaudessa |
| MEG3maternally expressed 3 | Joskus (5–29%) | 1 sairaudessa |
| NONOnon-POU domain containing octamer binding | Joskus (5–29%) | 1 sairaudessa |
| ORC4origin recognition complex subunit 4 | Joskus (5–29%) | 1 sairaudessa |
| PCDHGC4protocadherin gamma subfamily C, 4 | Joskus (5–29%) | 1 sairaudessa |
| PIDD1p53-induced death domain protein 1 | Joskus (5–29%) | 1 sairaudessa |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| RPL17ribosomal protein L17 | Joskus (5–29%) | 1 sairaudessa |
| RTL1retrotransposon Gag like 1 | Joskus (5–29%) | 1 sairaudessa |
| SETSET nuclear proto-oncogene | Joskus (5–29%) | 1 sairaudessa |
| SETBP1SET binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SMG8SMG8 nonsense mediated mRNA decay factor | Joskus (5–29%) | 1 sairaudessa |
| SPENspen family transcriptional repressor | Joskus (5–29%) | 1 sairaudessa |
| SPRED2sprouty related EVH1 domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Joskus (5–29%) | 1 sairaudessa |
| TBCKTBC1 domain containing kinase | Joskus (5–29%) | 1 sairaudessa |
| TRAF6TNF receptor associated factor 6 | Joskus (5–29%) | 1 sairaudessa |
| USP9Xubiquitin specific peptidase 9 X-linked | Joskus (5–29%) | 1 sairaudessa |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Joskus (5–29%) | 2 sairaudessa |
| WBP4WW domain binding protein 4 | Joskus (5–29%) | 1 sairaudessa |
| ZMYM2zinc finger MYM-type containing 2 | Joskus (5–29%) | 1 sairaudessa |
| ZNF699zinc finger protein 699 | Joskus (5–29%) | 1 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Harvinainen (1–4 %) | 1 sairaudessa |
| MAN1B1mannosidase alpha class 1B member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Ei kirjattu | 1 sairaudessa |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ei kirjattu | 1 sairaudessa |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ei kirjattu | 1 sairaudessa |
| COG7component of oligomeric golgi complex 7 | Ei kirjattu | 1 sairaudessa |
| CWC27CWC27 spliceosome associated cyclophilin | Ei kirjattu | 1 sairaudessa |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Ei kirjattu | 1 sairaudessa |
| KIFBPkinesin family binding protein | Ei kirjattu | 1 sairaudessa |
| MOCS1molybdenum cofactor synthesis 1 | Ei kirjattu | 1 sairaudessa |
| MOCS2molybdenum cofactor synthesis 2 | Ei kirjattu | 1 sairaudessa |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Ei kirjattu | 1 sairaudessa |
| NANSN-acetylneuraminate synthase | Ei kirjattu | 1 sairaudessa |
| SLC35A2solute carrier family 35 member A2 | Ei kirjattu | 1 sairaudessa |
| SOX18SRY-box transcription factor 18 | 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.
Tarkemmat piirteet
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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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