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Piirre
High, narrow palate
The presence of a high and narrow palate.
Yhteenveto
- Tunnetaan myös nimellä
- Narrow, high-arched roof of mouth, Narrow, highly arched roof of mouth, Gothic palate, High narrow palate, High vaulted palate, Narrow and high arched palate, Narrow, high-arched palate, Narrow, highly arched palate
- Elimistön järjestelmä
- Abnormality of head or neck
High, narrow palateHP:0002705
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Read the genes linked to High, narrow palate, and the rest of your genome, with one test.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test171 geeniä, jotka liittyvät piirteeseen High, narrow palate
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa High, narrow palate esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| COPB1coat protein complex I subunit beta 1 | Aina | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Aina | 1 sairaudessa |
| DHRS3dehydrogenase/reductase 3 | Aina | 1 sairaudessa |
| DSTdystonin | Aina | 1 sairaudessa |
| EP300EP300 lysine acetyltransferase | Aina | 1 sairaudessa |
| FBN1fibrillin 1 | Aina | 4 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Aina | 1 sairaudessa |
| INTUinturned planar cell polarity protein | Aina | 1 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| KDM6Alysine demethylase 6A | Aina | 1 sairaudessa |
| KMT2Dlysine methyltransferase 2D | Aina | 1 sairaudessa |
| MARS1methionyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| MYMXmyomixer, myoblast fusion factor | Aina | 1 sairaudessa |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Aina | 1 sairaudessa |
| NONOnon-POU domain containing octamer binding | Aina | 2 sairaudessa |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Aina | 1 sairaudessa |
| SCARF2scavenger receptor class F member 2 | Aina | 1 sairaudessa |
| SMSspermine synthase | Aina | 1 sairaudessa |
| SPOUT1SPOUT domain containing methyltransferase 1 | Aina | 1 sairaudessa |
| TBC1D32TBC1 domain family member 32 | Aina | 1 sairaudessa |
| ERMARDER membrane associated RNA degradation | Hyvin usein (80–99%) | 1 sairaudessa |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| NOTCH3notch receptor 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| RUNX2RUNX family transcription factor 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| SKISKI proto-oncogene | Hyvin usein (80–99%) | 1 sairaudessa |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| TAF1TATA-box binding protein associated factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| VPS13Bvacuolar protein sorting 13 homolog B | Hyvin usein (80–99%) | 2 sairaudessa |
| ABCD3ATP binding cassette subfamily D member 3 | Usein (30–79%) | 1 sairaudessa |
| AFF4ALF transcription elongation factor 4 | Usein (30–79%) | 1 sairaudessa |
| AMER1APC membrane recruitment protein 1 | Usein (30–79%) | 1 sairaudessa |
| ASXL3ASXL transcriptional regulator 3 | Usein (30–79%) | 1 sairaudessa |
| ATP7AATPase copper transporting alpha | Usein (30–79%) | 1 sairaudessa |
| CCDC22CCC complex scaffolding subunit CCDC22 | Usein (30–79%) | 1 sairaudessa |
| CDC45cell division cycle 45 | Usein (30–79%) | 1 sairaudessa |
| CDC6cell division cycle 6 | Usein (30–79%) | 1 sairaudessa |
| CDK10cyclin dependent kinase 10 | Usein (30–79%) | 1 sairaudessa |
| CDT1chromatin licensing and DNA replication factor 1 | Usein (30–79%) | 1 sairaudessa |
| CHD6chromodomain helicase DNA binding protein 6 | Usein (30–79%) | 1 sairaudessa |
Näytä 131 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| CTNNB1catenin beta 1 | Usein (30–79%) | 1 sairaudessa |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Usein (30–79%) | 1 sairaudessa |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Usein (30–79%) | 2 sairaudessa |
| DPYSL5dihydropyrimidinase like 5 | Usein (30–79%) | 1 sairaudessa |
| DVL1dishevelled segment polarity protein 1 | Usein (30–79%) | 1 sairaudessa |
| DVL3dishevelled segment polarity protein 3 | Usein (30–79%) | 1 sairaudessa |
| FGFR3fibroblast growth factor receptor 3 | Usein (30–79%) | 1 sairaudessa |
| FIG4FIG4 phosphoinositide 5-phosphatase | Usein (30–79%) | 1 sairaudessa |
| FZD2frizzled class receptor 2 | Usein (30–79%) | 1 sairaudessa |
| GIPC1GIPC PDZ domain containing family member 1 | Usein (30–79%) | 1 sairaudessa |
| GMNNgeminin DNA replication inhibitor | Usein (30–79%) | 1 sairaudessa |
| GPC3glypican 3 | Usein (30–79%) | 1 sairaudessa |
| GPC4glypican 4 | Usein (30–79%) | 1 sairaudessa |
| HPGD15-hydroxyprostaglandin dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| KCNK9potassium two pore domain channel subfamily K member 9 | Usein (30–79%) | 1 sairaudessa |
| LRP12LDL receptor related protein 12 | Usein (30–79%) | 1 sairaudessa |
| NOTCH2NLCnotch 2 N-terminal like C | Usein (30–79%) | 1 sairaudessa |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Usein (30–79%) | 1 sairaudessa |
| ORC1origin recognition complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| ORC4origin recognition complex subunit 4 | Usein (30–79%) | 1 sairaudessa |
| ORC6origin recognition complex subunit 6 | Usein (30–79%) | 1 sairaudessa |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Usein (30–79%) | 1 sairaudessa |
| RILPL1Rab interacting lysosomal protein like 1 | Usein (30–79%) | 1 sairaudessa |
| SLC25A12solute carrier family 25 member 12 | Usein (30–79%) | 1 sairaudessa |
| SLC6A17solute carrier family 6 member 17 | Usein (30–79%) | 1 sairaudessa |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Usein (30–79%) | 1 sairaudessa |
| SMG9SMG9 nonsense mediated mRNA decay factor | Usein (30–79%) | 1 sairaudessa |
| TAOK1TAO kinase 1 | Usein (30–79%) | 1 sairaudessa |
| TCTN3tectonic family member 3 | Usein (30–79%) | 1 sairaudessa |
| TGFB2transforming growth factor beta 2 | Usein (30–79%) | 2 sairaudessa |
| UBE3Bubiquitin protein ligase E3B | Usein (30–79%) | 1 sairaudessa |
| VAC14VAC14 component of PIKFYVE complex | Usein (30–79%) | 1 sairaudessa |
| VPS35LVPS35 endosomal protein sorting factor like | Usein (30–79%) | 1 sairaudessa |
| WASHC5WASH complex subunit 5 | Usein (30–79%) | 1 sairaudessa |
| WNT5AWnt family member 5A | Usein (30–79%) | 1 sairaudessa |
| AARS1alanyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| ACTA1actin alpha 1, skeletal muscle | Joskus (5–29%) | 1 sairaudessa |
| ACTA2actin alpha 2, smooth muscle | Joskus (5–29%) | 1 sairaudessa |
| ADNPactivity dependent neuroprotector homeobox | Joskus (5–29%) | 1 sairaudessa |
| APCAPC regulator of Wnt signaling pathway | Joskus (5–29%) | 1 sairaudessa |
| BCRBCR activator of RhoGEF and GTPase | Joskus (5–29%) | 1 sairaudessa |
| BMPR1Abone morphogenetic protein receptor type 1A | Joskus (5–29%) | 1 sairaudessa |
| CARS1cysteinyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| COL11A1collagen type XI alpha 1 chain | Joskus (5–29%) | 1 sairaudessa |
| COL12A1collagen type XII alpha 1 chain | Joskus (5–29%) | 1 sairaudessa |
| COL3A1collagen type III alpha 1 chain | Joskus (5–29%) | 1 sairaudessa |
| CPT2carnitine palmitoyltransferase 2 | Joskus (5–29%) | 1 sairaudessa |
| CRKLCRK like proto-oncogene, adaptor protein | Joskus (5–29%) | 1 sairaudessa |
| DBR1debranching RNA lariats 1 | Joskus (5–29%) | 1 sairaudessa |
| DDX59DEAD-box helicase 59 | Joskus (5–29%) | 1 sairaudessa |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Joskus (5–29%) | 1 sairaudessa |
| ELNelastin | Joskus (5–29%) | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Joskus (5–29%) | 1 sairaudessa |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Joskus (5–29%) | 1 sairaudessa |
| FOXE3forkhead box E3 | Joskus (5–29%) | 1 sairaudessa |
| GRB10growth factor receptor bound protein 10 | Joskus (5–29%) | 1 sairaudessa |
| GTF2E2general transcription factor IIE subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| GTF2H5general transcription factor IIH subunit 5 | Joskus (5–29%) | 1 sairaudessa |
| GTF3C3general transcription factor IIIC subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| H4C5H4 clustered histone 5 | Joskus (5–29%) | 1 sairaudessa |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Joskus (5–29%) | 1 sairaudessa |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Joskus (5–29%) | 2 sairaudessa |
| IPO8importin 8 | Joskus (5–29%) | 1 sairaudessa |
| KIF26Akinesin family member 26A | Joskus (5–29%) | 1 sairaudessa |
| KLHL41kelch like family member 41 | Joskus (5–29%) | 1 sairaudessa |
| LOXlysyl oxidase | Joskus (5–29%) | 1 sairaudessa |
| LRP4LDL receptor related protein 4 | Joskus (5–29%) | 1 sairaudessa |
| MAPK1mitogen-activated protein kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| MAT2Amethionine adenosyltransferase 2A | Joskus (5–29%) | 1 sairaudessa |
| MED12Lmediator complex subunit 12L | Joskus (5–29%) | 1 sairaudessa |
| MED25mediator complex subunit 25 | Joskus (5–29%) | 1 sairaudessa |
| MEGF8multiple EGF like domains 8 | Joskus (5–29%) | 1 sairaudessa |
| MFAP5microfibril associated protein 5 | Joskus (5–29%) | 1 sairaudessa |
| MPLKIPM-phase specific PLK1 interacting protein | Joskus (5–29%) | 1 sairaudessa |
| MYH11myosin heavy chain 11 | Joskus (5–29%) | 1 sairaudessa |
| MYLKmyosin light chain kinase | Joskus (5–29%) | 1 sairaudessa |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Joskus (5–29%) | 2 sairaudessa |
| NEBnebulin | Joskus (5–29%) | 1 sairaudessa |
| NHSNHS actin remodeling regulator | Joskus (5–29%) | 1 sairaudessa |
| PCDHGC4protocadherin gamma subfamily C, 4 | Joskus (5–29%) | 1 sairaudessa |
| PORcytochrome p450 oxidoreductase | Joskus (5–29%) | 1 sairaudessa |
| PRKG1protein kinase cGMP-dependent 1 | Joskus (5–29%) | 1 sairaudessa |
| PTDSS1phosphatidylserine synthase 1 | Joskus (5–29%) | 1 sairaudessa |
| PTENphosphatase and tensin homolog | Joskus (5–29%) | 1 sairaudessa |
| RNF113Aring finger protein 113A | Joskus (5–29%) | 1 sairaudessa |
| SLC25A24solute carrier family 25 member 24 | Joskus (5–29%) | 1 sairaudessa |
| SLC6A1solute carrier family 6 member 1 | Joskus (5–29%) | 1 sairaudessa |
| SLC6A11solute carrier family 6 member 11 | Joskus (5–29%) | 1 sairaudessa |
| SMAD2SMAD family member 2 | Joskus (5–29%) | 1 sairaudessa |
| SMAD3SMAD family member 3 | Joskus (5–29%) | 1 sairaudessa |
| SMAD4SMAD family member 4 | Joskus (5–29%) | 1 sairaudessa |
| SPENspen family transcriptional repressor | Joskus (5–29%) | 1 sairaudessa |
| SPRED2sprouty related EVH1 domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| TARS1threonyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| TBCKTBC1 domain containing kinase | Joskus (5–29%) | 1 sairaudessa |
| TGFB3transforming growth factor beta 3 | Joskus (5–29%) | 1 sairaudessa |
| TGFBR1transforming growth factor beta receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| TGFBR2transforming growth factor beta receptor 2 | Joskus (5–29%) | 1 sairaudessa |
| THSD4thrombospondin type 1 domain containing 4 | Joskus (5–29%) | 1 sairaudessa |
| TPM3tropomyosin 3 | Joskus (5–29%) | 1 sairaudessa |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Joskus (5–29%) | 1 sairaudessa |
| WNT7AWnt family member 7A | Joskus (5–29%) | 1 sairaudessa |
| FOXP2forkhead box P2 | Harvinainen (1–4 %) | 1 sairaudessa |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ABCC6ATP binding cassette subfamily C member 6 | Ei kirjattu | 1 sairaudessa |
| ANTXR1ANTXR cell adhesion molecule 1 | Ei kirjattu | 1 sairaudessa |
| ARID2AT-rich interaction domain 2 | Ei kirjattu | 1 sairaudessa |
| ARL6ARF like GTPase 6 | Ei kirjattu | 1 sairaudessa |
| ATN1atrophin 1 | Ei kirjattu | 1 sairaudessa |
| BBS1Bardet-Biedl syndrome 1 | Ei kirjattu | 1 sairaudessa |
| BCORBCL6 corepressor | Ei kirjattu | 1 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ei kirjattu | 1 sairaudessa |
| CCDC28Bcoiled-coil domain containing 28B | Ei kirjattu | 1 sairaudessa |
| CNTN1contactin 1 | Ei kirjattu | 1 sairaudessa |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ei kirjattu | 1 sairaudessa |
| IFT122intraflagellar transport 122 | Ei kirjattu | 1 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ei kirjattu | 1 sairaudessa |
| MCM3APminichromosome maintenance complex component 3 associated protein | Ei kirjattu | 1 sairaudessa |
| MUSKmuscle associated receptor tyrosine kinase | Ei kirjattu | 1 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Ei kirjattu | 1 sairaudessa |
| PCLOpiccolo presynaptic cytomatrix protein | Ei kirjattu | 1 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Ei kirjattu | 1 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Ei kirjattu | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ei kirjattu | 1 sairaudessa |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ei kirjattu | 1 sairaudessa |
| RECQL4RecQ like helicase 4 | Ei kirjattu | 1 sairaudessa |
| RETret proto-oncogene | Ei kirjattu | 1 sairaudessa |
| SIN3ASIN3 transcription regulator family member A | Ei kirjattu | 1 sairaudessa |
| SPRED1sprouty related EVH1 domain containing 1 | Ei kirjattu | 1 sairaudessa |
| TBX1T-box transcription factor 1 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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Kirjaudu sisäänKysyAloitaalkaen 449 $
Yksi testi. Vastauksia koko elämäksi.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa