Požymis
Full cheeks
Increased prominence or roundness of soft tissues between zygomata and mandible.
Santrauka
- Taip pat vadinama
- Apple cheeks, Big cheeks, Chubby cheeks, Increased size of cheeks, Large cheeks, Puffy cheeks
- Kūno sistema
- Abnormality of head or neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test164 genų susiję su Full cheeks
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Full cheeks. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ALPK3alpha kinase 3 | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Visada | 1 ligoje |
| CDK5cyclin dependent kinase 5 | Visada | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Visada | 1 ligoje |
| CPEcarboxypeptidase E | Visada | 1 ligoje |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Visada | 1 ligoje |
| FLNAfilamin A | Visada | 3 ligose |
| GTPBP1GTP binding protein 1 | Visada | 1 ligoje |
| H1-4H1.4 linker histone, cluster member | Visada | 1 ligoje |
| IFT122intraflagellar transport 122 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 2 ligose |
| IFT52intraflagellar transport 52 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| LIFRLIF receptor subunit alpha | Visada | 1 ligoje |
| LMNAlamin A/C | Visada | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Visada | 3 ligose |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Visada | 1 ligoje |
| PLCB4phospholipase C beta 4 | Visada | 2 ligose |
| SH3PXD2BSH3 and PX domains 2B | Visada | 1 ligoje |
| SOX11SRY-box transcription factor 11 | Visada | 1 ligoje |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Visada | 2 ligose |
| WDR19WD repeat domain 19 | Visada | 2 ligose |
| YARS1tyrosyl-tRNA synthetase 1 | Visada | 1 ligoje |
| ZPR1ZPR1 zinc finger | Visada | 1 ligoje |
| ACTBactin beta | Labai dažnai (80–99%) | 1 ligoje |
| ACTG1actin gamma 1 | Labai dažnai (80–99%) | 1 ligoje |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Labai dažnai (80–99%) | 1 ligoje |
| AIPAHR interacting HSP90 co-chaperone | Labai dažnai (80–99%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| CLCF1cardiotrophin like cytokine factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| CRLF1cytokine receptor like factor 1 | Labai dažnai (80–99%) | 2 ligose |
| ELMO2engulfment and cell motility 2 | Labai dažnai (80–99%) | 1 ligoje |
| GPR101G protein-coupled receptor 101 | Labai dažnai (80–99%) | 1 ligoje |
| GTPBP2GTP binding protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| HDAC9histone deacetylase 9 | Labai dažnai (80–99%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 124 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| IDUAalpha-L-iduronidase | Labai dažnai (80–99%) | 3 ligose |
| KLHL7kelch like family member 7 | Labai dažnai (80–99%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Labai dažnai (80–99%) | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Labai dažnai (80–99%) | 1 ligoje |
| SH3BP2SH3 domain binding protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| TCF4transcription factor 4 | Labai dažnai (80–99%) | 2 ligose |
| WDR26WD repeat domain 26 | Labai dažnai (80–99%) | 2 ligose |
| ZNHIT3zinc finger HIT-type containing 3 | Labai dažnai (80–99%) | 2 ligose |
| ASXL1ASXL transcriptional regulator 1 | Dažnai (30–79%) | 1 ligoje |
| ATP7AATPase copper transporting alpha | Dažnai (30–79%) | 1 ligoje |
| B9D1B9 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| B9D2B9 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Dažnai (30–79%) | 1 ligoje |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| DDB1damage specific DNA binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Dažnai (30–79%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| DTYMKdeoxythymidylate kinase | Dažnai (30–79%) | 1 ligoje |
| EDN1endothelin 1 | Dažnai (30–79%) | 2 ligose |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Dažnai (30–79%) | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Dažnai (30–79%) | 1 ligoje |
| ELNelastin | Dažnai (30–79%) | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Dažnai (30–79%) | 1 ligoje |
| FGF3fibroblast growth factor 3 | Dažnai (30–79%) | 1 ligoje |
| GNAI3G protein subunit alpha i3 | Dažnai (30–79%) | 1 ligoje |
| GNASGNAS complex locus | Dažnai (30–79%) | 6 ligose |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Dažnai (30–79%) | 1 ligoje |
| GON4Lgon-4 like | Dažnai (30–79%) | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Dažnai (30–79%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Dažnai (30–79%) | 3 ligose |
| IARS1isoleucyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| INTS1integrator complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| KIDINS220kinase D interacting substrate 220 | Dažnai (30–79%) | 1 ligoje |
| LTBP3latent transforming growth factor beta binding protein 3 | Dažnai (30–79%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MLXIPLMLX interacting protein like | Dažnai (30–79%) | 1 ligoje |
| MTHFSmethenyltetrahydrofolate synthetase | Dažnai (30–79%) | 1 ligoje |
| MYT1Lmyelin transcription factor 1 like | Dažnai (30–79%) | 1 ligoje |
| NOTCH2notch receptor 2 | Dažnai (30–79%) | 2 ligose |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| PCNTpericentrin | Dažnai (30–79%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Dažnai (30–79%) | 2 ligose |
| PUF60poly(U) binding splicing factor 60 | Dažnai (30–79%) | 2 ligose |
| RPGRIP1RPGR interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Dažnai (30–79%) | 1 ligoje |
| RSPO2R-spondin 2 | Dažnai (30–79%) | 1 ligoje |
| SC5Dsterol-C5-desaturase | Dažnai (30–79%) | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| SETD1BSET domain containing 1B, histone lysine methyltransferase | Dažnai (30–79%) | 1 ligoje |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Dažnai (30–79%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Dažnai (30–79%) | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Dažnai (30–79%) | 1 ligoje |
| STX16syntaxin 16 | Dažnai (30–79%) | 1 ligoje |
| TBCEtubulin folding cofactor E | Dažnai (30–79%) | 1 ligoje |
| TBX4T-box transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| TCTN1tectonic family member 1 | Dažnai (30–79%) | 1 ligoje |
| TCTN2tectonic family member 2 | Dažnai (30–79%) | 1 ligoje |
| TCTN3tectonic family member 3 | Dažnai (30–79%) | 1 ligoje |
| TECPR2tectonin beta-propeller repeat containing 2 | Dažnai (30–79%) | 1 ligoje |
| TFE3transcription factor binding to IGHM enhancer 3 | Dažnai (30–79%) | 1 ligoje |
| TGDSTDP-glucose 4,6-dehydratase | Dažnai (30–79%) | 2 ligose |
| TMEM107transmembrane protein 107 | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 1 ligoje |
| TMEM237transmembrane protein 237 | Dažnai (30–79%) | 1 ligoje |
| TMEM67transmembrane protein 67 | Dažnai (30–79%) | 1 ligoje |
| TXNDC15thioredoxin domain containing 15 | Dažnai (30–79%) | 1 ligoje |
| WACWW domain containing adaptor with coiled-coil | Dažnai (30–79%) | 2 ligose |
| WNT3Wnt family member 3 | Dažnai (30–79%) | 1 ligoje |
| AFF4ALF transcription elongation factor 4 | Kartais (5–29%) | 1 ligoje |
| BCKDKbranched chain keto acid dehydrogenase kinase | Kartais (5–29%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Kartais (5–29%) | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Kartais (5–29%) | 1 ligoje |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Kartais (5–29%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Kartais (5–29%) | 2 ligose |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| GATA4GATA binding protein 4 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| HEATR3HEAT repeat containing 3 | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 2 ligose |
| KIF11kinesin family member 11 | Kartais (5–29%) | 1 ligoje |
| KMT2Blysine methyltransferase 2B | Kartais (5–29%) | 1 ligoje |
| LARS1leucyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 2 ligose |
| PSPHphosphoserine phosphatase | Kartais (5–29%) | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Kartais (5–29%) | 1 ligoje |
| PURApurine rich element binding protein A | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| SLC29A3solute carrier family 29 member 3 | Kartais (5–29%) | 1 ligoje |
| SNX14sorting nexin 14 | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 2 ligose |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Kartais (5–29%) | 1 ligoje |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Kartais (5–29%) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| FBN1fibrillin 1 | Neužfiksuota | 1 ligoje |
| IER3IP1immediate early response 3 interacting protein 1 | Neužfiksuota | 1 ligoje |
| KMT2Elysine methyltransferase 2E (inactive) | Neužfiksuota | 1 ligoje |
| MOCS1molybdenum cofactor synthesis 1 | Neužfiksuota | 1 ligoje |
| MOCS2molybdenum cofactor synthesis 2 | Neužfiksuota | 1 ligoje |
| NEK9NIMA related kinase 9 | Neužfiksuota | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| PCLOpiccolo presynaptic cytomatrix protein | Neužfiksuota | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Neužfiksuota | 1 ligoje |
| STAG2STAG2 cohesin complex component | Neužfiksuota | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Neužfiksuota | 1 ligoje |
| WDR35WD repeat domain 35 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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