Tunnus
Round face
The facial appearance is more circular than usual as viewed from the front.
Kokkuvõte
- Teised nimetused
- Circular face, Round facial appearance, Round facial shape, Round facies
- Kehasüsteem
- Abnormality of head or neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Round face, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test112 geeni on seotud tunnusega Round face
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Round face. 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 |
|---|---|---|
| AGO1argonaute RISC component 1 | Alati | Esineb 1 haiguses |
| AMOTL1angiomotin like 1 | Alati | Esineb 1 haiguses |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alati | Esineb 2 haiguses |
| CANT1calcium activated nucleotidase 1 | Alati | Esineb 1 haiguses |
| CPEcarboxypeptidase E | Alati | Esineb 1 haiguses |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Alati | Esineb 1 haiguses |
| DNMT3ADNA methyltransferase 3 alpha | Alati | Esineb 2 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Alati | Esineb 2 haiguses |
| GNASGNAS complex locus | Alati | Esineb 8 haiguses |
| GTF3C3general transcription factor IIIC subunit 3 | Alati | Esineb 1 haiguses |
| IARS1isoleucyl-tRNA synthetase 1 | Alati | Esineb 2 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Alati | Esineb 3 haiguses |
| MRPL12mitochondrial ribosomal protein L12 | Alati | Esineb 1 haiguses |
| MRPS28mitochondrial ribosomal protein S28 | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 1 haiguses |
| RBL2RB transcriptional corepressor like 2 | Alati | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Alati | Esineb 1 haiguses |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Alati | Esineb 2 haiguses |
| TECPR2tectonin beta-propeller repeat containing 2 | Alati | Esineb 2 haiguses |
| TOR1Atorsin family 1 member A | Alati | Esineb 1 haiguses |
| UBAP2Lubiquitin associated protein 2 like | Alati | Esineb 1 haiguses |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alati | Esineb 1 haiguses |
| ADAMTSL2ADAMTS like 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL11A1collagen type XI alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL11A2collagen type XI alpha 2 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Väga sageli (80–99%) | Esineb 3 haiguses |
| CTNND2catenin delta 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Väga sageli (80–99%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| HDAC4histone deacetylase 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| LMNAlamin A/C | Väga sageli (80–99%) | Esineb 3 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEMA5Asemaphorin 5A | Väga sageli (80–99%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRAPPC9trafficking protein particle complex subunit 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZBTB18zinc finger and BTB domain containing 18 | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 72 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| AFF4ALF transcription elongation factor 4 | Sageli (30–79%) | Esineb 2 haiguses |
| AKT1AKT serine/threonine kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CENPEcentromere protein E | Sageli (30–79%) | Esineb 1 haiguses |
| EXOC8exocyst complex component 8 | Sageli (30–79%) | Esineb 1 haiguses |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Sageli (30–79%) | Esineb 2 haiguses |
| KAT5lysine acetyltransferase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Sageli (30–79%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Sageli (30–79%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Sageli (30–79%) | Esineb 1 haiguses |
| RECQLRecQ like helicase | Sageli (30–79%) | Esineb 1 haiguses |
| SH3BP2SH3 domain binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC37A4solute carrier family 37 member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| STX16syntaxin 16 | Sageli (30–79%) | Esineb 1 haiguses |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Sageli (30–79%) | Esineb 2 haiguses |
| ACTG2actin gamma 2, smooth muscle | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADARB1adenosine deaminase RNA specific B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANKRD11ankyrin repeat domain 11 | Mõnikord (5–29%) | Esineb 2 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHSY1chondroitin sulfate synthase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO31F-box protein 31 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FIBPFGF1 intracellular binding protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT56intraflagellar transport 56 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM4Blysine demethylase 4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF15kinesin family member 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED13Lmediator complex subunit 13L | Mõnikord (5–29%) | Esineb 2 haiguses |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| P3H1prolyl 3-hydroxylase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP2post-GPI attachment to proteins 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEPTIN9septin 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMT10AtRNA methyltransferase 10A | Mõnikord (5–29%) | Esineb 1 haiguses |
| WWOXWW domain containing oxidoreductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| XYLT1xylosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Harva (1–4%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Harva (1–4%) | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| ARMC5armadillo repeat containing 5 | Pole registreeritud | Esineb 1 haiguses |
| COL6A1collagen type VI alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| CRTAPcartilage associated protein | Pole registreeritud | Esineb 1 haiguses |
| ECEL1endothelin converting enzyme like 1 | Pole registreeritud | Esineb 1 haiguses |
| EEDembryonic ectoderm development | Pole registreeritud | Esineb 1 haiguses |
| GNAI3G protein subunit alpha i3 | Pole registreeritud | Esineb 1 haiguses |
| HOXD13homeobox D13 | Pole registreeritud | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| ITGA3integrin subunit alpha 3 | Pole registreeritud | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| PAM16presequence translocase associated motor 16 | Pole registreeritud | Esineb 1 haiguses |
| PDE11Aphosphodiesterase 11A | Pole registreeritud | Esineb 1 haiguses |
| PDE4Dphosphodiesterase 4D | Pole registreeritud | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Pole registreeritud | Esineb 1 haiguses |
| PLCB4phospholipase C beta 4 | Pole registreeritud | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| SLC10A7solute carrier family 10 member 7 | Pole registreeritud | Esineb 1 haiguses |
| TMEM67transmembrane protein 67 | Pole registreeritud | Esineb 1 haiguses |
| ZBTB24zinc finger and BTB domain containing 24 | 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