Piirre
Full cheeks
Increased prominence or roundness of soft tissues between zygomata and mandible.
Yhteenveto
- Tunnetaan myös nimellä
- Apple cheeks, Big cheeks, Chubby cheeks, Increased size of cheeks, Large cheeks, Puffy cheeks
- Elimistön järjestelmä
- Abnormality of head or neck
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Full cheeks, and the rest of your genome, with one test.
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Tilaa Genome Test164 geeniä, jotka liittyvät piirteeseen Full cheeks
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Full cheeks 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 |
|---|---|---|
| ALPK3alpha kinase 3 | Aina | 1 sairaudessa |
| ARID2AT-rich interaction domain 2 | Aina | 1 sairaudessa |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Aina | 1 sairaudessa |
| CDK5cyclin dependent kinase 5 | Aina | 1 sairaudessa |
| CILK1ciliogenesis associated kinase 1 | Aina | 1 sairaudessa |
| CPEcarboxypeptidase E | Aina | 1 sairaudessa |
| ESAMendothelial cell adhesion molecule | Aina | 1 sairaudessa |
| FAT4FAT atypical cadherin 4 | Aina | 1 sairaudessa |
| FLNAfilamin A | Aina | 3 sairaudessa |
| GTPBP1GTP binding protein 1 | Aina | 1 sairaudessa |
| H1-4H1.4 linker histone, cluster member | Aina | 1 sairaudessa |
| IFT122intraflagellar transport 122 | Aina | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Aina | 2 sairaudessa |
| IFT52intraflagellar transport 52 | Aina | 1 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Aina | 1 sairaudessa |
| LIFRLIF receptor subunit alpha | Aina | 1 sairaudessa |
| LMNAlamin A/C | Aina | 1 sairaudessa |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Aina | 3 sairaudessa |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Aina | 1 sairaudessa |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Aina | 1 sairaudessa |
| PLCB4phospholipase C beta 4 | Aina | 2 sairaudessa |
| SH3PXD2BSH3 and PX domains 2B | Aina | 1 sairaudessa |
| SOX11SRY-box transcription factor 11 | Aina | 1 sairaudessa |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Aina | 2 sairaudessa |
| WDR19WD repeat domain 19 | Aina | 2 sairaudessa |
| YARS1tyrosyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| ZPR1ZPR1 zinc finger | Aina | 1 sairaudessa |
| ACTBactin beta | Hyvin usein (80–99%) | 1 sairaudessa |
| ACTG1actin gamma 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| AIPAHR interacting HSP90 co-chaperone | Hyvin usein (80–99%) | 1 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| CLCF1cardiotrophin like cytokine factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CRLF1cytokine receptor like factor 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ELMO2engulfment and cell motility 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| GPR101G protein-coupled receptor 101 | Hyvin usein (80–99%) | 1 sairaudessa |
| GTPBP2GTP binding protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| HDAC9histone deacetylase 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| HSPG2heparan sulfate proteoglycan 2 | Hyvin usein (80–99%) | 2 sairaudessa |
Näytä 124 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| IDUAalpha-L-iduronidase | Hyvin usein (80–99%) | 3 sairaudessa |
| KLHL7kelch like family member 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| LMX1BLIM homeobox transcription factor 1 beta | Hyvin usein (80–99%) | 1 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MAP2K2mitogen-activated protein kinase kinase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NALCNsodium leak channel, non-selective | Hyvin usein (80–99%) | 1 sairaudessa |
| SH3BP2SH3 domain binding protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| STXBP1syntaxin binding protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TCF4transcription factor 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| WDR26WD repeat domain 26 | Hyvin usein (80–99%) | 2 sairaudessa |
| ZNHIT3zinc finger HIT-type containing 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| ASXL1ASXL transcriptional regulator 1 | Usein (30–79%) | 1 sairaudessa |
| ATP7AATPase copper transporting alpha | Usein (30–79%) | 1 sairaudessa |
| B9D1B9 domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| B9D2B9 domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| CC2D2Acoiled-coil and C2 domain containing 2A | Usein (30–79%) | 1 sairaudessa |
| CEP290centrosomal protein 290 | Usein (30–79%) | 1 sairaudessa |
| CSPP1centrosome and spindle pole associated protein 1 | Usein (30–79%) | 1 sairaudessa |
| DDB1damage specific DNA binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| DDX3XDEAD-box helicase 3 X-linked | Usein (30–79%) | 1 sairaudessa |
| DPYDdihydropyrimidine dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| DTYMKdeoxythymidylate kinase | Usein (30–79%) | 1 sairaudessa |
| EDN1endothelin 1 | Usein (30–79%) | 2 sairaudessa |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Usein (30–79%) | 1 sairaudessa |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Usein (30–79%) | 1 sairaudessa |
| ELNelastin | Usein (30–79%) | 1 sairaudessa |
| EP300EP300 lysine acetyltransferase | Usein (30–79%) | 1 sairaudessa |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Usein (30–79%) | 1 sairaudessa |
| FGF3fibroblast growth factor 3 | Usein (30–79%) | 1 sairaudessa |
| GNAI3G protein subunit alpha i3 | Usein (30–79%) | 1 sairaudessa |
| GNASGNAS complex locus | Usein (30–79%) | 6 sairaudessa |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Usein (30–79%) | 1 sairaudessa |
| GON4Lgon-4 like | Usein (30–79%) | 1 sairaudessa |
| GTF3C3general transcription factor IIIC subunit 3 | Usein (30–79%) | 1 sairaudessa |
| HRASHRas proto-oncogene, GTPase | Usein (30–79%) | 3 sairaudessa |
| IARS1isoleucyl-tRNA synthetase 1 | Usein (30–79%) | 2 sairaudessa |
| INTS1integrator complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| KIDINS220kinase D interacting substrate 220 | Usein (30–79%) | 1 sairaudessa |
| LTBP3latent transforming growth factor beta binding protein 3 | Usein (30–79%) | 1 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| MLXIPLMLX interacting protein like | Usein (30–79%) | 1 sairaudessa |
| MTHFSmethenyltetrahydrofolate synthetase | Usein (30–79%) | 1 sairaudessa |
| MYT1Lmyelin transcription factor 1 like | Usein (30–79%) | 1 sairaudessa |
| NOTCH2notch receptor 2 | Usein (30–79%) | 2 sairaudessa |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Usein (30–79%) | 1 sairaudessa |
| PCNTpericentrin | Usein (30–79%) | 1 sairaudessa |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Usein (30–79%) | 2 sairaudessa |
| PUF60poly(U) binding splicing factor 60 | Usein (30–79%) | 2 sairaudessa |
| RPGRIP1RPGR interacting protein 1 | Usein (30–79%) | 1 sairaudessa |
| RPGRIP1LRPGRIP1 like | Usein (30–79%) | 1 sairaudessa |
| RSPO2R-spondin 2 | Usein (30–79%) | 1 sairaudessa |
| SC5Dsterol-C5-desaturase | Usein (30–79%) | 1 sairaudessa |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Usein (30–79%) | 1 sairaudessa |
| SETD1BSET domain containing 1B, histone lysine methyltransferase | Usein (30–79%) | 1 sairaudessa |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Usein (30–79%) | 1 sairaudessa |
| SIM1SIM bHLH transcription factor 1 | Usein (30–79%) | 1 sairaudessa |
| SLC26A2solute carrier family 26 member 2 | Usein (30–79%) | 1 sairaudessa |
| SLC35A2solute carrier family 35 member A2 | Usein (30–79%) | 1 sairaudessa |
| SLC37A4solute carrier family 37 member 4 | Usein (30–79%) | 1 sairaudessa |
| STX16syntaxin 16 | Usein (30–79%) | 1 sairaudessa |
| TBCEtubulin folding cofactor E | Usein (30–79%) | 1 sairaudessa |
| TBX4T-box transcription factor 4 | Usein (30–79%) | 1 sairaudessa |
| TCTN1tectonic family member 1 | Usein (30–79%) | 1 sairaudessa |
| TCTN2tectonic family member 2 | Usein (30–79%) | 1 sairaudessa |
| TCTN3tectonic family member 3 | Usein (30–79%) | 1 sairaudessa |
| TECPR2tectonin beta-propeller repeat containing 2 | Usein (30–79%) | 1 sairaudessa |
| TFE3transcription factor binding to IGHM enhancer 3 | Usein (30–79%) | 1 sairaudessa |
| TGDSTDP-glucose 4,6-dehydratase | Usein (30–79%) | 2 sairaudessa |
| TMEM107transmembrane protein 107 | Usein (30–79%) | 1 sairaudessa |
| TMEM216transmembrane protein 216 | Usein (30–79%) | 1 sairaudessa |
| TMEM231transmembrane protein 231 | Usein (30–79%) | 1 sairaudessa |
| TMEM237transmembrane protein 237 | Usein (30–79%) | 1 sairaudessa |
| TMEM67transmembrane protein 67 | Usein (30–79%) | 1 sairaudessa |
| TXNDC15thioredoxin domain containing 15 | Usein (30–79%) | 1 sairaudessa |
| WACWW domain containing adaptor with coiled-coil | Usein (30–79%) | 2 sairaudessa |
| WNT3Wnt family member 3 | Usein (30–79%) | 1 sairaudessa |
| AFF4ALF transcription elongation factor 4 | Joskus (5–29%) | 1 sairaudessa |
| BCKDKbranched chain keto acid dehydrogenase kinase | Joskus (5–29%) | 1 sairaudessa |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Joskus (5–29%) | 1 sairaudessa |
| BMP2bone morphogenetic protein 2 | Joskus (5–29%) | 1 sairaudessa |
| CDC42BPBCDC42 binding protein kinase beta | Joskus (5–29%) | 1 sairaudessa |
| CLCN3Cl-/H+ antiporter 3 | Joskus (5–29%) | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | 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 |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Joskus (5–29%) | 1 sairaudessa |
| EXTL3exostosin like glycosyltransferase 3 | Joskus (5–29%) | 2 sairaudessa |
| FBXO11F-box protein 11 | Joskus (5–29%) | 1 sairaudessa |
| GATA4GATA binding protein 4 | Joskus (5–29%) | 1 sairaudessa |
| GNB2G protein subunit beta 2 | Joskus (5–29%) | 1 sairaudessa |
| HEATR3HEAT repeat containing 3 | Joskus (5–29%) | 1 sairaudessa |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Joskus (5–29%) | 2 sairaudessa |
| KIF11kinesin family member 11 | Joskus (5–29%) | 1 sairaudessa |
| KMT2Blysine methyltransferase 2B | Joskus (5–29%) | 1 sairaudessa |
| LARS1leucyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| MEG3maternally expressed 3 | Joskus (5–29%) | 1 sairaudessa |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Joskus (5–29%) | 1 sairaudessa |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Joskus (5–29%) | 2 sairaudessa |
| PSPHphosphoserine phosphatase | Joskus (5–29%) | 1 sairaudessa |
| PTH1Rparathyroid hormone 1 receptor | Joskus (5–29%) | 1 sairaudessa |
| PURApurine rich element binding protein A | Joskus (5–29%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Joskus (5–29%) | 1 sairaudessa |
| RTL1retrotransposon Gag like 1 | Joskus (5–29%) | 1 sairaudessa |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| SLC29A3solute carrier family 29 member 3 | Joskus (5–29%) | 1 sairaudessa |
| SNX14sorting nexin 14 | Joskus (5–29%) | 1 sairaudessa |
| SONSON DNA and RNA binding protein | Joskus (5–29%) | 2 sairaudessa |
| TRMT10AtRNA methyltransferase 10A | Joskus (5–29%) | 1 sairaudessa |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Joskus (5–29%) | 1 sairaudessa |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Joskus (5–29%) | 1 sairaudessa |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| FBN1fibrillin 1 | Ei kirjattu | 1 sairaudessa |
| IER3IP1immediate early response 3 interacting protein 1 | Ei kirjattu | 1 sairaudessa |
| KMT2Elysine methyltransferase 2E (inactive) | Ei kirjattu | 1 sairaudessa |
| MOCS1molybdenum cofactor synthesis 1 | Ei kirjattu | 1 sairaudessa |
| MOCS2molybdenum cofactor synthesis 2 | Ei kirjattu | 1 sairaudessa |
| NEK9NIMA related kinase 9 | Ei kirjattu | 1 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Ei kirjattu | 1 sairaudessa |
| PCLOpiccolo presynaptic cytomatrix protein | Ei kirjattu | 1 sairaudessa |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ei kirjattu | 1 sairaudessa |
| STAG2STAG2 cohesin complex component | Ei kirjattu | 1 sairaudessa |
| TBL1XR1TBL1X/Y related 1 | Ei kirjattu | 1 sairaudessa |
| WDR35WD repeat domain 35 | 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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Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa