Egenskap
Full cheeks
Increased prominence or roundness of soft tissues between zygomata and mandible.
Sammendrag
- Også kalt
- Apple cheeks, Big cheeks, Chubby cheeks, Increased size of cheeks, Large cheeks, Puffy cheeks
- Kroppssystem
- Abnormality of head or neck
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test164 gener knyttet til Full cheeks
Endringer i disse genene forårsaker sjeldne tilstander der Full cheeks forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALPK3alpha kinase 3 | Alltid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Alltid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alltid | I 1 tilstand |
| CDK5cyclin dependent kinase 5 | Alltid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| CPEcarboxypeptidase E | Alltid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Alltid | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Alltid | I 1 tilstand |
| FLNAfilamin A | Alltid | I 3 tilstander |
| GTPBP1GTP binding protein 1 | Alltid | I 1 tilstand |
| H1-4H1.4 linker histone, cluster member | Alltid | I 1 tilstand |
| IFT122intraflagellar transport 122 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 2 tilstander |
| IFT52intraflagellar transport 52 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Alltid | I 1 tilstand |
| LMNAlamin A/C | Alltid | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Alltid | I 3 tilstander |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alltid | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Alltid | I 2 tilstander |
| SH3PXD2BSH3 and PX domains 2B | Alltid | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Alltid | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Alltid | I 2 tilstander |
| WDR19WD repeat domain 19 | Alltid | I 2 tilstander |
| YARS1tyrosyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| ZPR1ZPR1 zinc finger | Alltid | I 1 tilstand |
| ACTBactin beta | Svært ofte (80–99 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Svært ofte (80–99 %) | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Svært ofte (80–99 %) | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Svært ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| CLCF1cardiotrophin like cytokine factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ELMO2engulfment and cell motility 2 | Svært ofte (80–99 %) | I 1 tilstand |
| GPR101G protein-coupled receptor 101 | Svært ofte (80–99 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HDAC9histone deacetylase 9 | Svært ofte (80–99 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Svært ofte (80–99 %) | I 2 tilstander |
Vis 124 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| IDUAalpha-L-iduronidase | Svært ofte (80–99 %) | I 3 tilstander |
| KLHL7kelch like family member 7 | Svært ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Svært ofte (80–99 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Svært ofte (80–99 %) | I 1 tilstand |
| SH3BP2SH3 domain binding protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TCF4transcription factor 4 | Svært ofte (80–99 %) | I 2 tilstander |
| WDR26WD repeat domain 26 | Svært ofte (80–99 %) | I 2 tilstander |
| ZNHIT3zinc finger HIT-type containing 3 | Svært ofte (80–99 %) | I 2 tilstander |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ofte (30–79 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DDB1damage specific DNA binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Ofte (30–79 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| EDN1endothelin 1 | Ofte (30–79 %) | I 2 tilstander |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Ofte (30–79 %) | I 1 tilstand |
| FGF3fibroblast growth factor 3 | Ofte (30–79 %) | I 1 tilstand |
| GNAI3G protein subunit alpha i3 | Ofte (30–79 %) | I 1 tilstand |
| GNASGNAS complex locus | Ofte (30–79 %) | I 6 tilstander |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ofte (30–79 %) | I 1 tilstand |
| GON4Lgon-4 like | Ofte (30–79 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ofte (30–79 %) | I 3 tilstander |
| IARS1isoleucyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstander |
| INTS1integrator complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KIDINS220kinase D interacting substrate 220 | Ofte (30–79 %) | I 1 tilstand |
| LTBP3latent transforming growth factor beta binding protein 3 | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| MTHFSmethenyltetrahydrofolate synthetase | Ofte (30–79 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Ofte (30–79 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Ofte (30–79 %) | I 2 tilstander |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| PCNTpericentrin | Ofte (30–79 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ofte (30–79 %) | I 2 tilstander |
| PUF60poly(U) binding splicing factor 60 | Ofte (30–79 %) | I 2 tilstander |
| RPGRIP1RPGR interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Ofte (30–79 %) | I 1 tilstand |
| RSPO2R-spondin 2 | Ofte (30–79 %) | I 1 tilstand |
| SC5Dsterol-C5-desaturase | Ofte (30–79 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| SETD1BSET domain containing 1B, histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ofte (30–79 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Ofte (30–79 %) | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Ofte (30–79 %) | I 1 tilstand |
| STX16syntaxin 16 | Ofte (30–79 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ofte (30–79 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Ofte (30–79 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Ofte (30–79 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 1 tilstand |
| TECPR2tectonin beta-propeller repeat containing 2 | Ofte (30–79 %) | I 1 tilstand |
| TFE3transcription factor binding to IGHM enhancer 3 | Ofte (30–79 %) | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Ofte (30–79 %) | I 2 tilstander |
| TMEM107transmembrane protein 107 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 1 tilstand |
| TXNDC15thioredoxin domain containing 15 | Ofte (30–79 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Ofte (30–79 %) | I 2 tilstander |
| WNT3Wnt family member 3 | Ofte (30–79 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Noen ganger (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Noen ganger (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Noen ganger (5–29 %) | I 2 tilstander |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| LARS1leucyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 2 tilstander |
| PSPHphosphoserine phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Noen ganger (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| TRMT10AtRNA methyltransferase 10A | Noen ganger (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Noen ganger (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| FBN1fibrillin 1 | Ikke registrert | I 1 tilstand |
| IER3IP1immediate early response 3 interacting protein 1 | Ikke registrert | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registrert | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registrert | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registrert | I 1 tilstand |
| NEK9NIMA related kinase 9 | Ikke registrert | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ikke registrert | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Ikke registrert | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ikke registrert | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ikke registrert | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ikke registrert | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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