Požymis
Round face
The facial appearance is more circular than usual as viewed from the front.
Santrauka
- Taip pat vadinama
- Circular face, Round facial appearance, Round facial shape, Round facies
- Kūno sistema
- Abnormality of head or neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Round face, and the rest of your genome, with one test.
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Įsigyti savo Genome Test112 genų susiję su Round face
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Round face. 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 |
|---|---|---|
| AGO1argonaute RISC component 1 | Visada | 1 ligoje |
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Visada | 2 ligose |
| CANT1calcium activated nucleotidase 1 | Visada | 1 ligoje |
| CPEcarboxypeptidase E | Visada | 1 ligoje |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Visada | 1 ligoje |
| DNMT3ADNA methyltransferase 3 alpha | Visada | 2 ligose |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Visada | 2 ligose |
| GNASGNAS complex locus | Visada | 8 ligose |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| IARS1isoleucyl-tRNA synthetase 1 | Visada | 2 ligose |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| LTBP3latent transforming growth factor beta binding protein 3 | Visada | 3 ligose |
| MRPL12mitochondrial ribosomal protein L12 | Visada | 1 ligoje |
| MRPS28mitochondrial ribosomal protein S28 | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| RBL2RB transcriptional corepressor like 2 | Visada | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 1 ligoje |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Visada | 2 ligose |
| TECPR2tectonin beta-propeller repeat containing 2 | Visada | 2 ligose |
| TOR1Atorsin family 1 member A | Visada | 1 ligoje |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Visada | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Labai dažnai (80–99%) | 2 ligose |
| B3GLCTbeta 3-glucosyltransferase | Labai dažnai (80–99%) | 2 ligose |
| COL11A1collagen type XI alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| COL11A2collagen type XI alpha 2 chain | Labai dažnai (80–99%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Labai dažnai (80–99%) | 3 ligose |
| CTNND2catenin delta 2 | Labai dažnai (80–99%) | 1 ligoje |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Labai dažnai (80–99%) | 1 ligoje |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 3 ligose |
| HDAC4histone deacetylase 4 | Labai dažnai (80–99%) | 2 ligose |
| LMNAlamin A/C | Labai dažnai (80–99%) | 3 ligose |
| LMX1BLIM homeobox transcription factor 1 beta | Labai dažnai (80–99%) | 1 ligoje |
| SEMA5Asemaphorin 5A | Labai dažnai (80–99%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| TRAPPC9trafficking protein particle complex subunit 9 | Labai dažnai (80–99%) | 1 ligoje |
| ZBTB18zinc finger and BTB domain containing 18 | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 72 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AFF4ALF transcription elongation factor 4 | Dažnai (30–79%) | 2 ligose |
| AKT1AKT serine/threonine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| CENPEcentromere protein E | Dažnai (30–79%) | 1 ligoje |
| EXOC8exocyst complex component 8 | Dažnai (30–79%) | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Dažnai (30–79%) | 2 ligose |
| KAT5lysine acetyltransferase 5 | Dažnai (30–79%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Dažnai (30–79%) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Dažnai (30–79%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Dažnai (30–79%) | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Dažnai (30–79%) | 2 ligose |
| PEX6peroxisomal biogenesis factor 6 | Dažnai (30–79%) | 1 ligoje |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Dažnai (30–79%) | 1 ligoje |
| RECQLRecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| SH3BP2SH3 domain binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Dažnai (30–79%) | 1 ligoje |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Dažnai (30–79%) | 1 ligoje |
| STX16syntaxin 16 | Dažnai (30–79%) | 1 ligoje |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Dažnai (30–79%) | 2 ligose |
| ACTG2actin gamma 2, smooth muscle | Kartais (5–29%) | 1 ligoje |
| ADARB1adenosine deaminase RNA specific B1 | Kartais (5–29%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Kartais (5–29%) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Kartais (5–29%) | 2 ligose |
| BBS2Bardet-Biedl syndrome 2 | Kartais (5–29%) | 1 ligoje |
| CHSY1chondroitin sulfate synthase 1 | Kartais (5–29%) | 1 ligoje |
| FBXO31F-box protein 31 | Kartais (5–29%) | 1 ligoje |
| FIBPFGF1 intracellular binding protein | Kartais (5–29%) | 2 ligose |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Kartais (5–29%) | 1 ligoje |
| IFT56intraflagellar transport 56 | Kartais (5–29%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Kartais (5–29%) | 1 ligoje |
| KDM4Blysine demethylase 4B | Kartais (5–29%) | 1 ligoje |
| KIF15kinesin family member 15 | Kartais (5–29%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Kartais (5–29%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 2 ligose |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| NOTCH3notch receptor 3 | Kartais (5–29%) | 1 ligoje |
| P3H1prolyl 3-hydroxylase 1 | Kartais (5–29%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Kartais (5–29%) | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Kartais (5–29%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Kartais (5–29%) | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Kartais (5–29%) | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Kartais (5–29%) | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Kartais (5–29%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 1 ligoje |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Kartais (5–29%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Kartais (5–29%) | 1 ligoje |
| SEPTIN9septin 9 | Kartais (5–29%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Kartais (5–29%) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Retai (1–4 %) | 1 ligoje |
| ARMC5armadillo repeat containing 5 | Neužfiksuota | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Neužfiksuota | 1 ligoje |
| CRTAPcartilage associated protein | Neužfiksuota | 1 ligoje |
| ECEL1endothelin converting enzyme like 1 | Neužfiksuota | 1 ligoje |
| EEDembryonic ectoderm development | Neužfiksuota | 1 ligoje |
| GNAI3G protein subunit alpha i3 | Neužfiksuota | 1 ligoje |
| HOXD13homeobox D13 | Neužfiksuota | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| ITGA3integrin subunit alpha 3 | Neužfiksuota | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| PAM16presequence translocase associated motor 16 | Neužfiksuota | 1 ligoje |
| PDE11Aphosphodiesterase 11A | Neužfiksuota | 1 ligoje |
| PDE4Dphosphodiesterase 4D | Neužfiksuota | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Neužfiksuota | 1 ligoje |
| PLCB4phospholipase C beta 4 | Neužfiksuota | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Neužfiksuota | 1 ligoje |
| SLC10A7solute carrier family 10 member 7 | Neužfiksuota | 1 ligoje |
| TMEM67transmembrane protein 67 | Neužfiksuota | 1 ligoje |
| ZBTB24zinc finger and BTB domain containing 24 | 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.
Platesni požymiai
Iš kur tai žinoma
- 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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