Tunnus
Full cheeks
Increased prominence or roundness of soft tissues between zygomata and mandible.
Kokkuvõte
- Teised nimetused
- Apple cheeks, Big cheeks, Chubby cheeks, Increased size of cheeks, Large cheeks, Puffy cheeks
- Kehasüsteem
- Abnormality of head or neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Full cheeks, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test164 geeni on seotud tunnusega Full cheeks
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Full cheeks. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ALPK3alpha kinase 3 | Alati | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Alati | Esineb 1 haiguses |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alati | Esineb 1 haiguses |
| CDK5cyclin dependent kinase 5 | Alati | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Alati | Esineb 1 haiguses |
| CPEcarboxypeptidase E | Alati | Esineb 1 haiguses |
| ESAMendothelial cell adhesion molecule | Alati | Esineb 1 haiguses |
| FAT4FAT atypical cadherin 4 | Alati | Esineb 1 haiguses |
| FLNAfilamin A | Alati | Esineb 3 haiguses |
| GTPBP1GTP binding protein 1 | Alati | Esineb 1 haiguses |
| H1-4H1.4 linker histone, cluster member | Alati | Esineb 1 haiguses |
| IFT122intraflagellar transport 122 | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 2 haiguses |
| IFT52intraflagellar transport 52 | Alati | Esineb 1 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| LIFRLIF receptor subunit alpha | Alati | Esineb 1 haiguses |
| LMNAlamin A/C | Alati | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Alati | Esineb 3 haiguses |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alati | Esineb 1 haiguses |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alati | Esineb 1 haiguses |
| PLCB4phospholipase C beta 4 | Alati | Esineb 2 haiguses |
| SH3PXD2BSH3 and PX domains 2B | Alati | Esineb 1 haiguses |
| SOX11SRY-box transcription factor 11 | Alati | Esineb 1 haiguses |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Alati | Esineb 2 haiguses |
| WDR19WD repeat domain 19 | Alati | Esineb 2 haiguses |
| YARS1tyrosyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| ZPR1ZPR1 zinc finger | Alati | Esineb 1 haiguses |
| ACTBactin beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACTG1actin gamma 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| AIPAHR interacting HSP90 co-chaperone | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLCF1cardiotrophin like cytokine factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRLF1cytokine receptor like factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ELMO2engulfment and cell motility 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPR101G protein-coupled receptor 101 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HDAC9histone deacetylase 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 124 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| IDUAalpha-L-iduronidase | Väga sageli (80–99%) | Esineb 3 haiguses |
| KLHL7kelch like family member 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Väga sageli (80–99%) | Esineb 1 haiguses |
| SH3BP2SH3 domain binding protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCF4transcription factor 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| WDR26WD repeat domain 26 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZNHIT3zinc finger HIT-type containing 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP7AATPase copper transporting alpha | Sageli (30–79%) | Esineb 1 haiguses |
| B9D1B9 domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| B9D2B9 domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sageli (30–79%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 1 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DDB1damage specific DNA binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DDX3XDEAD-box helicase 3 X-linked | Sageli (30–79%) | Esineb 1 haiguses |
| DPYDdihydropyrimidine dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| DTYMKdeoxythymidylate kinase | Sageli (30–79%) | Esineb 1 haiguses |
| EDN1endothelin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Sageli (30–79%) | Esineb 1 haiguses |
| ELNelastin | Sageli (30–79%) | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Sageli (30–79%) | Esineb 1 haiguses |
| FGF3fibroblast growth factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GNAI3G protein subunit alpha i3 | Sageli (30–79%) | Esineb 1 haiguses |
| GNASGNAS complex locus | Sageli (30–79%) | Esineb 6 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sageli (30–79%) | Esineb 1 haiguses |
| GON4Lgon-4 like | Sageli (30–79%) | Esineb 1 haiguses |
| GTF3C3general transcription factor IIIC subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 3 haiguses |
| IARS1isoleucyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| INTS1integrator complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KIDINS220kinase D interacting substrate 220 | Sageli (30–79%) | Esineb 1 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MLXIPLMLX interacting protein like | Sageli (30–79%) | Esineb 1 haiguses |
| MTHFSmethenyltetrahydrofolate synthetase | Sageli (30–79%) | Esineb 1 haiguses |
| MYT1Lmyelin transcription factor 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| PCNTpericentrin | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sageli (30–79%) | Esineb 2 haiguses |
| PUF60poly(U) binding splicing factor 60 | Sageli (30–79%) | Esineb 2 haiguses |
| RPGRIP1RPGR interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RPGRIP1LRPGRIP1 like | Sageli (30–79%) | Esineb 1 haiguses |
| RSPO2R-spondin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SC5Dsterol-C5-desaturase | Sageli (30–79%) | Esineb 1 haiguses |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Sageli (30–79%) | Esineb 1 haiguses |
| SETD1BSET domain containing 1B, histone lysine methyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SIM1SIM bHLH transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC35A2solute carrier family 35 member A2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC37A4solute carrier family 37 member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| STX16syntaxin 16 | Sageli (30–79%) | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Sageli (30–79%) | Esineb 1 haiguses |
| TBX4T-box transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN1tectonic family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN2tectonic family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TECPR2tectonin beta-propeller repeat containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TFE3transcription factor binding to IGHM enhancer 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TGDSTDP-glucose 4,6-dehydratase | Sageli (30–79%) | Esineb 2 haiguses |
| TMEM107transmembrane protein 107 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM231transmembrane protein 231 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM67transmembrane protein 67 | Sageli (30–79%) | Esineb 1 haiguses |
| TXNDC15thioredoxin domain containing 15 | Sageli (30–79%) | Esineb 1 haiguses |
| WACWW domain containing adaptor with coiled-coil | Sageli (30–79%) | Esineb 2 haiguses |
| WNT3Wnt family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| AFF4ALF transcription elongation factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCKDKbranched chain keto acid dehydrogenase kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMP2bone morphogenetic protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42BPBCDC42 binding protein kinase beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOT1LDOT1 like histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HEATR3HEAT repeat containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KIF11kinesin family member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Blysine methyltransferase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| LARS1leucyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Mõnikord (5–29%) | Esineb 2 haiguses |
| PSPHphosphoserine phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| PURApurine rich element binding protein A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC29A3solute carrier family 29 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNX14sorting nexin 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| TRMT10AtRNA methyltransferase 10A | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Pole registreeritud | Esineb 1 haiguses |
| IER3IP1immediate early response 3 interacting protein 1 | Pole registreeritud | Esineb 1 haiguses |
| KMT2Elysine methyltransferase 2E (inactive) | Pole registreeritud | Esineb 1 haiguses |
| MOCS1molybdenum cofactor synthesis 1 | Pole registreeritud | Esineb 1 haiguses |
| MOCS2molybdenum cofactor synthesis 2 | Pole registreeritud | Esineb 1 haiguses |
| NEK9NIMA related kinase 9 | Pole registreeritud | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| PCLOpiccolo presynaptic cytomatrix protein | Pole registreeritud | Esineb 1 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Pole registreeritud | Esineb 1 haiguses |
| STAG2STAG2 cohesin complex component | Pole registreeritud | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Pole registreeritud | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast