Požymis
Big lower jaw
Klinikinis pavadinimas: Mandibular prognathia
Abnormal prominence of the chin related to increased length of the mandible.
Santrauka
- Taip pat vadinama
- Increased projection of lower jaw, Increased size of lower jaw, Increased size of mandible, Large lower jaw, Prominent chin, Prominent lower jaw, Big mandible, Enlarged mandible, Enlargement of mandible, Hyperplasia of lower jaw, Increased projection of mandible, Large mandible, Lower jaw excess, Lower jaw hyperplasia, Macromandible, Mandible prognathism, Mandibular excess, Mandibular hyperplasia, Mandibular macrognathia, Mandibular prognathism, Prognathia, Prognathism, Prominent jaw, Prominent mandible, Relative mandibular prognathism
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Big lower jaw, and the rest of your genome, with one test.
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Įsigyti savo Genome Test226 genų susiję su Big lower jaw
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Big lower jaw. 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 |
|---|---|---|
| ACANaggrecan | Visada | 3 ligose |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Visada | 1 ligoje |
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Visada | 1 ligoje |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Visada | 1 ligoje |
| ATRXATRX chromatin remodeler | Visada | 1 ligoje |
| CDH11cadherin 11 | Visada | 2 ligose |
| DDX59DEAD-box helicase 59 | Visada | 1 ligoje |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| GNB2G protein subunit beta 2 | Visada | 1 ligoje |
| GPC3glypican 3 | Visada | 2 ligose |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Visada | 2 ligose |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Visada | 1 ligoje |
| IL6STinterleukin 6 cytokine family signal transducer | Visada | 1 ligoje |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MYOD1myogenic differentiation 1 | Visada | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 1 ligoje |
| PRKG2protein kinase cGMP-dependent 2 | Visada | 1 ligoje |
| PTDSS1phosphatidylserine synthase 1 | Visada | 2 ligose |
| RNF113Aring finger protein 113A | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| RPL10ribosomal protein L10 | Visada | 3 ligose |
| SLC12A2solute carrier family 12 member 2 | Visada | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Visada | 1 ligoje |
| SLC6A17solute carrier family 6 member 17 | Visada | 2 ligose |
| SMAD4SMAD family member 4 | Visada | 2 ligose |
| SOSTsclerostin | Visada | 3 ligose |
| TPRKBTP53RK binding protein | Visada | 1 ligoje |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| AGAaspartylglucosaminidase | Labai dažnai (80–99%) | 1 ligoje |
| AIPAHR interacting HSP90 co-chaperone | Labai dažnai (80–99%) | 2 ligose |
| GPC4glypican 4 | Labai dažnai (80–99%) | 1 ligoje |
| GPR101G protein-coupled receptor 101 | Labai dažnai (80–99%) | 1 ligoje |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Labai dažnai (80–99%) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Labai dažnai (80–99%) | 2 ligose |
| MEN1menin 1 | Labai dažnai (80–99%) | 1 ligoje |
| NHSNHS actin remodeling regulator | Labai dažnai (80–99%) | 1 ligoje |
| PAX3paired box 3 | Labai dažnai (80–99%) | 3 ligose |
| SLC25A24solute carrier family 25 member 24 | Labai dažnai (80–99%) | 2 ligose |
| ACTA1actin alpha 1, skeletal muscle | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 186 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ADAMTSL1ADAMTS like 1 | Dažnai (30–79%) | 1 ligoje |
| ADAMTSL4ADAMTS like 4 | Dažnai (30–79%) | 1 ligoje |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Dažnai (30–79%) | 1 ligoje |
| ANKHANKH inorganic pyrophosphate transport regulator | Dažnai (30–79%) | 1 ligoje |
| ANTXR1ANTXR cell adhesion molecule 1 | Dažnai (30–79%) | 1 ligoje |
| APCAPC regulator of Wnt signaling pathway | Dažnai (30–79%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Dažnai (30–79%) | 1 ligoje |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Dažnai (30–79%) | 1 ligoje |
| CSNK2Bcasein kinase 2 beta | Dažnai (30–79%) | 1 ligoje |
| DEAF1DEAF1 transcription factor | Dažnai (30–79%) | 1 ligoje |
| DOCK3dedicator of cytokinesis 3 | Dažnai (30–79%) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Dažnai (30–79%) | 3 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Dažnai (30–79%) | 3 ligose |
| EXOSC5exosome component 5 | Dažnai (30–79%) | 1 ligoje |
| FBN1fibrillin 1 | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 2 ligose |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 6 ligose |
| FMR1fragile X messenger ribonucleoprotein 1 | Dažnai (30–79%) | 2 ligose |
| FOXG1forkhead box G1 | Dažnai (30–79%) | 1 ligoje |
| FOXP1forkhead box P1 | Dažnai (30–79%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Dažnai (30–79%) | 2 ligose |
| IL11RAinterleukin 11 receptor subunit alpha | Dažnai (30–79%) | 1 ligoje |
| KAT5lysine acetyltransferase 5 | Dažnai (30–79%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Dažnai (30–79%) | 1 ligoje |
| KPTNkaptin, actin binding protein | Dažnai (30–79%) | 2 ligose |
| MBD5methyl-CpG binding domain protein 5 | Dažnai (30–79%) | 1 ligoje |
| MED25mediator complex subunit 25 | Dažnai (30–79%) | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Dažnai (30–79%) | 1 ligoje |
| NFIXnuclear factor I X | Dažnai (30–79%) | 1 ligoje |
| OPHN1oligophrenin 1 | Dažnai (30–79%) | 2 ligose |
| PCGF2polycomb group ring finger 2 | Dažnai (30–79%) | 1 ligoje |
| PDE4Dphosphodiesterase 4D | Dažnai (30–79%) | 3 ligose |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 1 ligoje |
| PQBP1polyglutamine binding protein 1 | Dažnai (30–79%) | 3 ligose |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Dažnai (30–79%) | 2 ligose |
| PTENphosphatase and tensin homolog | Dažnai (30–79%) | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 2 ligose |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 2 ligose |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Dažnai (30–79%) | 1 ligoje |
| RUNX2RUNX family transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| RUSC2RUN and SH3 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| SFRP4secreted frizzled related protein 4 | Dažnai (30–79%) | 2 ligose |
| SH3PXD2BSH3 and PX domains 2B | Dažnai (30–79%) | 1 ligoje |
| STAG2STAG2 cohesin complex component | Dažnai (30–79%) | 1 ligoje |
| STAT3signal transducer and activator of transcription 3 | Dažnai (30–79%) | 1 ligoje |
| STEEP1STING1 ER exit protein 1 | Dažnai (30–79%) | 1 ligoje |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Dažnai (30–79%) | 1 ligoje |
| SVILsupervillin | Dažnai (30–79%) | 1 ligoje |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Dažnai (30–79%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Dažnai (30–79%) | 2 ligose |
| ACBD6acyl-CoA binding domain containing 6 | Kartais (5–29%) | 1 ligoje |
| ACTBactin beta | Kartais (5–29%) | 1 ligoje |
| AFF3ALF transcription elongation factor 3 | Kartais (5–29%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Kartais (5–29%) | 2 ligose |
| ATP10AATPase phospholipid transporting 10A (putative) | Kartais (5–29%) | 1 ligoje |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Kartais (5–29%) | 1 ligoje |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Kartais (5–29%) | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| CLIC2CLIC family member 2 | Kartais (5–29%) | 1 ligoje |
| CNOT3CCR4-NOT transcription complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | 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 |
| DOT1LDOT1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| FAM20CFAM20C golgi associated secretory pathway kinase | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FBXW11F-box and WD repeat domain containing 11 | Kartais (5–29%) | 1 ligoje |
| GORABgolgin, RAB6 interacting | Kartais (5–29%) | 2 ligose |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Kartais (5–29%) | 1 ligoje |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Kartais (5–29%) | 1 ligoje |
| H3-3BH3.3 histone B | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HNF1BHNF1 homeobox B | Kartais (5–29%) | 1 ligoje |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Kartais (5–29%) | 1 ligoje |
| INSRinsulin receptor | Kartais (5–29%) | 2 ligose |
| KCTD1potassium channel tetramerization domain containing 1 | Kartais (5–29%) | 1 ligoje |
| KDM5Clysine demethylase 5C | Kartais (5–29%) | 1 ligoje |
| KDM6Blysine demethylase 6B | Kartais (5–29%) | 1 ligoje |
| LTBP3latent transforming growth factor beta binding protein 3 | Kartais (5–29%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Kartais (5–29%) | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 2 ligose |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| MESDmesoderm development LRP chaperone | Kartais (5–29%) | 1 ligoje |
| MYH7myosin heavy chain 7 | Kartais (5–29%) | 1 ligoje |
| MYH8myosin heavy chain 8 | Kartais (5–29%) | 1 ligoje |
| NDST1N-deacetylase and N-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Kartais (5–29%) | 1 ligoje |
| NSRP1nuclear speckle splicing regulatory protein 1 | Kartais (5–29%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Kartais (5–29%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Kartais (5–29%) | 1 ligoje |
| PCDHGC4protocadherin gamma subfamily C, 4 | 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 |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | 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%) | 2 ligose |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Kartais (5–29%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Kartais (5–29%) | 1 ligoje |
| PLAAT3phospholipase A and acyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| PTCH1patched 1 | Kartais (5–29%) | 2 ligose |
| PTCH2patched 2 | Kartais (5–29%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Kartais (5–29%) | 1 ligoje |
| PYCR1pyrroline-5-carboxylate reductase 1 | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RNF125ring finger protein 125 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SELENONselenoprotein N | Kartais (5–29%) | 1 ligoje |
| SLC10A7solute carrier family 10 member 7 | Kartais (5–29%) | 1 ligoje |
| SLC35C1solute carrier family 35 member C1 | Kartais (5–29%) | 1 ligoje |
| SLC4A10solute carrier family 4 member 10 | Kartais (5–29%) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC6A11solute carrier family 6 member 11 | Kartais (5–29%) | 1 ligoje |
| SMPD4sphingomyelin phosphodiesterase 4 | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 1 ligoje |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Kartais (5–29%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Kartais (5–29%) | 2 ligose |
| TONSLtonsoku like, DNA repair protein | Kartais (5–29%) | 2 ligose |
| TTNtitin | Kartais (5–29%) | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Kartais (5–29%) | 5 ligose |
| WDR62WD repeat domain 62 | Kartais (5–29%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Kartais (5–29%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Retai (1–4 %) | 1 ligoje |
| COL13A1collagen type XIII alpha 1 chain | Retai (1–4 %) | 1 ligoje |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Retai (1–4 %) | 1 ligoje |
| DNMT3ADNA methyltransferase 3 alpha | Retai (1–4 %) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| H3-3AH3.3 histone A | Retai (1–4 %) | 1 ligoje |
| KIF7kinesin family member 7 | Retai (1–4 %) | 1 ligoje |
| LAMB2laminin subunit beta 2 | Retai (1–4 %) | 1 ligoje |
| SMSspermine synthase | Retai (1–4 %) | 2 ligose |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Neužfiksuota | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Neužfiksuota | 1 ligoje |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Neužfiksuota | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Neužfiksuota | 1 ligoje |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Neužfiksuota | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Neužfiksuota | 1 ligoje |
| CUL4Bcullin 4B | Neužfiksuota | 1 ligoje |
| CUL7cullin 7 | Neužfiksuota | 1 ligoje |
| DYMdymeclin | Neužfiksuota | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Neužfiksuota | 1 ligoje |
| FLCNfolliculin | Neužfiksuota | 1 ligoje |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Neužfiksuota | 1 ligoje |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Neužfiksuota | 1 ligoje |
| GLB1galactosidase beta 1 | Neužfiksuota | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Neužfiksuota | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Neužfiksuota | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| IDUAalpha-L-iduronidase | Neužfiksuota | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Neužfiksuota | 1 ligoje |
| KIF11kinesin family member 11 | Neužfiksuota | 1 ligoje |
| LRP4LDL receptor related protein 4 | Neužfiksuota | 1 ligoje |
| MAGEL2MAGE family member L2 | Neužfiksuota | 1 ligoje |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Neužfiksuota | 1 ligoje |
| MUSKmuscle associated receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| MYH3myosin heavy chain 3 | Neužfiksuota | 1 ligoje |
| POC1APOC1 centriolar protein A | Neužfiksuota | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Neužfiksuota | 1 ligoje |
| SETD2SET domain containing 2, histone lysine methyltransferase | Neužfiksuota | 1 ligoje |
| SLC6A8solute carrier family 6 member 8 | Neužfiksuota | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Neužfiksuota | 1 ligoje |
| SOX18SRY-box transcription factor 18 | Neužfiksuota | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Neužfiksuota | 1 ligoje |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Neužfiksuota | 1 ligoje |
| TBC1D7TBC1 domain family member 7 | Neužfiksuota | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Neužfiksuota | 1 ligoje |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Neužfiksuota | 1 ligoje |
| TNFSF11TNF superfamily member 11 | Neužfiksuota | 1 ligoje |
| TNNI2troponin I2, fast skeletal type | Neužfiksuota | 1 ligoje |
| TWIST2twist family bHLH transcription factor 2 | Neužfiksuota | 1 ligoje |
| TXNL4Athioredoxin like 4A | 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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Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites