Kenmerk
Full cheeks
Increased prominence or roundness of soft tissues between zygomata and mandible.
Samenvatting
- Ook bekend als
- Apple cheeks, Big cheeks, Chubby cheeks, Increased size of cheeks, Large cheeks, Puffy cheeks
- Lichaamssysteem
- Abnormality of head or neck
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Full cheeks voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ALPK3alpha kinase 3 | Altijd | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Altijd | In 1 aandoening |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altijd | In 1 aandoening |
| CDK5cyclin dependent kinase 5 | Altijd | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Altijd | In 1 aandoening |
| CPEcarboxypeptidase E | Altijd | In 1 aandoening |
| ESAMendothelial cell adhesion molecule | Altijd | In 1 aandoening |
| FAT4FAT atypical cadherin 4 | Altijd | In 1 aandoening |
| FLNAfilamin A | Altijd | In 3 aandoeningen |
| GTPBP1GTP binding protein 1 | Altijd | In 1 aandoening |
| H1-4H1.4 linker histone, cluster member | Altijd | In 1 aandoening |
| IFT122intraflagellar transport 122 | Altijd | In 1 aandoening |
| IFT140intraflagellar transport 140 | Altijd | In 2 aandoeningen |
| IFT52intraflagellar transport 52 | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| LIFRLIF receptor subunit alpha | Altijd | In 1 aandoening |
| LMNAlamin A/C | Altijd | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Altijd | In 3 aandoeningen |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altijd | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altijd | In 1 aandoening |
| PLCB4phospholipase C beta 4 | Altijd | In 2 aandoeningen |
| SH3PXD2BSH3 and PX domains 2B | Altijd | In 1 aandoening |
| SOX11SRY-box transcription factor 11 | Altijd | In 1 aandoening |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Altijd | In 2 aandoeningen |
| WDR19WD repeat domain 19 | Altijd | In 2 aandoeningen |
| YARS1tyrosyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| ZPR1ZPR1 zinc finger | Altijd | In 1 aandoening |
| ACTBactin beta | Heel vaak (80–99%) | In 1 aandoening |
| ACTG1actin gamma 1 | Heel vaak (80–99%) | In 1 aandoening |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Heel vaak (80–99%) | In 1 aandoening |
| AIPAHR interacting HSP90 co-chaperone | Heel vaak (80–99%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 1 aandoening |
| CLCF1cardiotrophin like cytokine factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| CRLF1cytokine receptor like factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ELMO2engulfment and cell motility 2 | Heel vaak (80–99%) | In 1 aandoening |
| GPR101G protein-coupled receptor 101 | Heel vaak (80–99%) | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| HDAC9histone deacetylase 9 | Heel vaak (80–99%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Heel vaak (80–99%) | In 2 aandoeningen |
Toon nog 124 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| IDUAalpha-L-iduronidase | Heel vaak (80–99%) | In 3 aandoeningen |
| KLHL7kelch like family member 7 | Heel vaak (80–99%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| LMX1BLIM homeobox transcription factor 1 beta | Heel vaak (80–99%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Heel vaak (80–99%) | In 1 aandoening |
| SH3BP2SH3 domain binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| STXBP1syntaxin binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| TCF4transcription factor 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| WDR26WD repeat domain 26 | Heel vaak (80–99%) | In 2 aandoeningen |
| ZNHIT3zinc finger HIT-type containing 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| ASXL1ASXL transcriptional regulator 1 | Vaak (30–79%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Vaak (30–79%) | In 1 aandoening |
| B9D1B9 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| B9D2B9 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Vaak (30–79%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Vaak (30–79%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| DDB1damage specific DNA binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| DDX3XDEAD-box helicase 3 X-linked | Vaak (30–79%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| DTYMKdeoxythymidylate kinase | Vaak (30–79%) | In 1 aandoening |
| EDN1endothelin 1 | Vaak (30–79%) | In 2 aandoeningen |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Vaak (30–79%) | In 1 aandoening |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Vaak (30–79%) | In 1 aandoening |
| ELNelastin | Vaak (30–79%) | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Vaak (30–79%) | In 1 aandoening |
| FGF3fibroblast growth factor 3 | Vaak (30–79%) | In 1 aandoening |
| GNAI3G protein subunit alpha i3 | Vaak (30–79%) | In 1 aandoening |
| GNASGNAS complex locus | Vaak (30–79%) | In 6 aandoeningen |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Vaak (30–79%) | In 1 aandoening |
| GON4Lgon-4 like | Vaak (30–79%) | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Vaak (30–79%) | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Vaak (30–79%) | In 3 aandoeningen |
| IARS1isoleucyl-tRNA synthetase 1 | Vaak (30–79%) | In 2 aandoeningen |
| INTS1integrator complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| KIDINS220kinase D interacting substrate 220 | Vaak (30–79%) | In 1 aandoening |
| LTBP3latent transforming growth factor beta binding protein 3 | Vaak (30–79%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| MLXIPLMLX interacting protein like | Vaak (30–79%) | In 1 aandoening |
| MTHFSmethenyltetrahydrofolate synthetase | Vaak (30–79%) | In 1 aandoening |
| MYT1Lmyelin transcription factor 1 like | Vaak (30–79%) | In 1 aandoening |
| NOTCH2notch receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| PCNTpericentrin | Vaak (30–79%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| PUF60poly(U) binding splicing factor 60 | Vaak (30–79%) | In 2 aandoeningen |
| RPGRIP1RPGR interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| RPGRIP1LRPGRIP1 like | Vaak (30–79%) | In 1 aandoening |
| RSPO2R-spondin 2 | Vaak (30–79%) | In 1 aandoening |
| SC5Dsterol-C5-desaturase | Vaak (30–79%) | In 1 aandoening |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Vaak (30–79%) | In 1 aandoening |
| SETD1BSET domain containing 1B, histone lysine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Vaak (30–79%) | In 1 aandoening |
| SIM1SIM bHLH transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| SLC26A2solute carrier family 26 member 2 | Vaak (30–79%) | In 1 aandoening |
| SLC35A2solute carrier family 35 member A2 | Vaak (30–79%) | In 1 aandoening |
| SLC37A4solute carrier family 37 member 4 | Vaak (30–79%) | In 1 aandoening |
| STX16syntaxin 16 | Vaak (30–79%) | In 1 aandoening |
| TBCEtubulin folding cofactor E | Vaak (30–79%) | In 1 aandoening |
| TBX4T-box transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| TCTN1tectonic family member 1 | Vaak (30–79%) | In 1 aandoening |
| TCTN2tectonic family member 2 | Vaak (30–79%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Vaak (30–79%) | In 1 aandoening |
| TECPR2tectonin beta-propeller repeat containing 2 | Vaak (30–79%) | In 1 aandoening |
| TFE3transcription factor binding to IGHM enhancer 3 | Vaak (30–79%) | In 1 aandoening |
| TGDSTDP-glucose 4,6-dehydratase | Vaak (30–79%) | In 2 aandoeningen |
| TMEM107transmembrane protein 107 | Vaak (30–79%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Vaak (30–79%) | In 1 aandoening |
| TMEM231transmembrane protein 231 | Vaak (30–79%) | In 1 aandoening |
| TMEM237transmembrane protein 237 | Vaak (30–79%) | In 1 aandoening |
| TMEM67transmembrane protein 67 | Vaak (30–79%) | In 1 aandoening |
| TXNDC15thioredoxin domain containing 15 | Vaak (30–79%) | In 1 aandoening |
| WACWW domain containing adaptor with coiled-coil | Vaak (30–79%) | In 2 aandoeningen |
| WNT3Wnt family member 3 | Vaak (30–79%) | In 1 aandoening |
| AFF4ALF transcription elongation factor 4 | Soms (5–29%) | In 1 aandoening |
| BCKDKbranched chain keto acid dehydrogenase kinase | Soms (5–29%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Soms (5–29%) | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Soms (5–29%) | In 1 aandoening |
| CDC42BPBCDC42 binding protein kinase beta | Soms (5–29%) | In 1 aandoening |
| CLCN3Cl-/H+ antiporter 3 | Soms (5–29%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Soms (5–29%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Soms (5–29%) | In 1 aandoening |
| DOT1LDOT1 like histone lysine methyltransferase | Soms (5–29%) | In 1 aandoening |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Soms (5–29%) | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Soms (5–29%) | In 2 aandoeningen |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| GATA4GATA binding protein 4 | Soms (5–29%) | In 1 aandoening |
| GNB2G protein subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| HEATR3HEAT repeat containing 3 | Soms (5–29%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Soms (5–29%) | In 2 aandoeningen |
| KIF11kinesin family member 11 | Soms (5–29%) | In 1 aandoening |
| KMT2Blysine methyltransferase 2B | Soms (5–29%) | In 1 aandoening |
| LARS1leucyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| MEG3maternally expressed 3 | Soms (5–29%) | In 1 aandoening |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Soms (5–29%) | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Soms (5–29%) | In 2 aandoeningen |
| PSPHphosphoserine phosphatase | Soms (5–29%) | In 1 aandoening |
| PTH1Rparathyroid hormone 1 receptor | Soms (5–29%) | In 1 aandoening |
| PURApurine rich element binding protein A | Soms (5–29%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Soms (5–29%) | In 1 aandoening |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Soms (5–29%) | In 1 aandoening |
| SLC29A3solute carrier family 29 member 3 | Soms (5–29%) | In 1 aandoening |
| SNX14sorting nexin 14 | Soms (5–29%) | In 1 aandoening |
| SONSON DNA and RNA binding protein | Soms (5–29%) | In 2 aandoeningen |
| TRMT10AtRNA methyltransferase 10A | Soms (5–29%) | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Soms (5–29%) | In 1 aandoening |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Soms (5–29%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| FBN1fibrillin 1 | Niet vastgelegd | In 1 aandoening |
| IER3IP1immediate early response 3 interacting protein 1 | Niet vastgelegd | In 1 aandoening |
| KMT2Elysine methyltransferase 2E (inactive) | Niet vastgelegd | In 1 aandoening |
| MOCS1molybdenum cofactor synthesis 1 | Niet vastgelegd | In 1 aandoening |
| MOCS2molybdenum cofactor synthesis 2 | Niet vastgelegd | In 1 aandoening |
| NEK9NIMA related kinase 9 | Niet vastgelegd | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Niet vastgelegd | In 1 aandoening |
| PCLOpiccolo presynaptic cytomatrix protein | Niet vastgelegd | In 1 aandoening |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Niet vastgelegd | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Niet vastgelegd | In 1 aandoening |
| TBL1XR1TBL1X/Y related 1 | Niet vastgelegd | In 1 aandoening |
| WDR35WD repeat domain 35 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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