Požymis
Open mouth
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Santrauka
- Taip pat vadinama
- Gaped jawed appearance, Gaped mouthed appearance, Open mouth appearance, Slack jawed appearance
- Kūno sistema
- Abnormality of head or neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test128 genų susiję su Open mouth
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Open mouth. 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 |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Visada | 1 ligoje |
| ASH1LASH1 like histone lysine methyltransferase | Visada | 1 ligoje |
| BCAS3BCAS3 microtubule associated cell migration factor | Visada | 1 ligoje |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Visada | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Visada | 1 ligoje |
| DENND5ADENN domain containing 5A | Visada | 1 ligoje |
| DSTdystonin | Visada | 2 ligose |
| GCSHglycine cleavage system protein H | Visada | 1 ligoje |
| HOXB1homeobox B1 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Visada | 2 ligose |
| NEXMIFneurite extension and migration factor | Visada | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Visada | 2 ligose |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Visada | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Labai dažnai (80–99%) | 1 ligoje |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Labai dažnai (80–99%) | 1 ligoje |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Labai dažnai (80–99%) | 2 ligose |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Labai dažnai (80–99%) | 2 ligose |
| PAK3p21 (RAC1) activated kinase 3 | Labai dažnai (80–99%) | 1 ligoje |
| PDE4Dphosphodiesterase 4D | Labai dažnai (80–99%) | 1 ligoje |
| PLXND1plexin D1 | Labai dažnai (80–99%) | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Labai dažnai (80–99%) | 1 ligoje |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Labai dažnai (80–99%) | 2 ligose |
| SLC9A6solute carrier family 9 member A6 | Labai dažnai (80–99%) | 2 ligose |
| VPS13Bvacuolar protein sorting 13 homolog B | Labai dažnai (80–99%) | 2 ligose |
| ZNHIT3zinc finger HIT-type containing 3 | Labai dažnai (80–99%) | 2 ligose |
| AGO2argonaute RISC catalytic component 2 | Dažnai (30–79%) | 1 ligoje |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Dažnai (30–79%) | 1 ligoje |
| CSNK2Bcasein kinase 2 beta | Dažnai (30–79%) | 1 ligoje |
| ECEL1endothelin converting enzyme like 1 | Dažnai (30–79%) | 1 ligoje |
| ELNelastin | Dažnai (30–79%) | 1 ligoje |
| FOXP1forkhead box P1 | Dažnai (30–79%) | 2 ligose |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Dažnai (30–79%) | 3 ligose |
| KCNK9potassium two pore domain channel subfamily K member 9 | Dažnai (30–79%) | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Dažnai (30–79%) | 2 ligose |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 2 ligose |
Rodyti dar 88 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MED13Lmediator complex subunit 13L | Dažnai (30–79%) | 2 ligose |
| MLXIPLMLX interacting protein like | Dažnai (30–79%) | 1 ligoje |
| NFIXnuclear factor I X | Dažnai (30–79%) | 1 ligoje |
| NKAPNFKB activating protein | Dažnai (30–79%) | 1 ligoje |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Dažnai (30–79%) | 1 ligoje |
| PDZD8PDZ domain containing 8 | Dažnai (30–79%) | 1 ligoje |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Dažnai (30–79%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 2 ligose |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Dažnai (30–79%) | 2 ligose |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 1 ligoje |
| RBSNrabenosyn, RAB effector | Dažnai (30–79%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RPS23ribosomal protein S23 | Dažnai (30–79%) | 1 ligoje |
| SLC6A8solute carrier family 6 member 8 | Dažnai (30–79%) | 1 ligoje |
| SOX11SRY-box transcription factor 11 | Dažnai (30–79%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Dažnai (30–79%) | 2 ligose |
| TET3tet methylcytosine dioxygenase 3 | Dažnai (30–79%) | 1 ligoje |
| TFE3transcription factor binding to IGHM enhancer 3 | Dažnai (30–79%) | 1 ligoje |
| TUBB4Atubulin beta 4A class IVa | Dažnai (30–79%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Dažnai (30–79%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Dažnai (30–79%) | 2 ligose |
| AKT1AKT serine/threonine kinase 1 | Kartais (5–29%) | 2 ligose |
| ASXL3ASXL transcriptional regulator 3 | Kartais (5–29%) | 1 ligoje |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| DHX30DExH-box helicase 30 | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Kartais (5–29%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| FAM149B1family with sequence similarity 149 member B1 | Kartais (5–29%) | 1 ligoje |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Kartais (5–29%) | 1 ligoje |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Kartais (5–29%) | 1 ligoje |
| H3-3AH3.3 histone A | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Kartais (5–29%) | 1 ligoje |
| KIF7kinesin family member 7 | Kartais (5–29%) | 1 ligoje |
| LAMA2laminin subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| MED12Lmediator complex subunit 12L | Kartais (5–29%) | 1 ligoje |
| MEF2Cmyocyte enhancer factor 2C | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Kartais (5–29%) | 2 ligose |
| NGLY1N-glycanase 1 | Kartais (5–29%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Kartais (5–29%) | 1 ligoje |
| POLRMTRNA polymerase mitochondrial | Kartais (5–29%) | 1 ligoje |
| RAC1Rac family small GTPase 1 | Kartais (5–29%) | 2 ligose |
| RAP1BRAP1B, member of RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
| STRADASTE20 related adaptor alpha | Kartais (5–29%) | 2 ligose |
| TBCKTBC1 domain containing kinase | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Neužfiksuota | 1 ligoje |
| ATN1atrophin 1 | Neužfiksuota | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Neužfiksuota | 1 ligoje |
| CCDC174coiled-coil domain containing 174 | Neužfiksuota | 1 ligoje |
| CLTCclathrin heavy chain | Neužfiksuota | 1 ligoje |
| DGCR2DiGeorge syndrome critical region gene 2 | Neužfiksuota | 1 ligoje |
| DGCR6DiGeorge syndrome critical region gene 6 | Neužfiksuota | 1 ligoje |
| DGCR8DGCR8 microprocessor complex subunit | Neužfiksuota | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Neužfiksuota | 1 ligoje |
| ESS2ess-2 spliceosome associated protein | Neužfiksuota | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Neužfiksuota | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Neužfiksuota | 1 ligoje |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Neužfiksuota | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| MAGEL2MAGE family member L2 | Neužfiksuota | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Neužfiksuota | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Neužfiksuota | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Neužfiksuota | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Neužfiksuota | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Neužfiksuota | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Neužfiksuota | 1 ligoje |
| PURApurine rich element binding protein A | Neužfiksuota | 1 ligoje |
| PUS7pseudouridine synthase 7 | Neužfiksuota | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Neužfiksuota | 1 ligoje |
| SOX5SRY-box transcription factor 5 | Neužfiksuota | 1 ligoje |
| TBX1T-box transcription factor 1 | Neužfiksuota | 1 ligoje |
| TCF20transcription factor 20 | Neužfiksuota | 1 ligoje |
| TCF4transcription factor 4 | Neužfiksuota | 1 ligoje |
| TMEM237transmembrane protein 237 | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
| ZSWIM6zinc finger SWIM-type containing 6 | 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.
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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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