Piirre
Triangular face
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Yhteenveto
- Tunnetaan myös nimellä
- Face with broad temples and narrow chin, Triangular facial shape, Inverted triangular face, Triangular facies
- Elimistön järjestelmä
- Abnormality of head or neck
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Triangular face, and the rest of your genome, with one test.
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Tilaa Genome Test189 geeniä, jotka liittyvät piirteeseen Triangular face
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Triangular face 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 |
|---|---|---|
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Aina | 2 sairaudessa |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Aina | 1 sairaudessa |
| ANKRD11ankyrin repeat domain 11 | Aina | 3 sairaudessa |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Aina | 1 sairaudessa |
| BUD13BUD13 spliceosome associated protein | Aina | 1 sairaudessa |
| CAV1caveolin 1 | Aina | 1 sairaudessa |
| CDC6cell division cycle 6 | Aina | 1 sairaudessa |
| CEP57centrosomal protein 57 | Aina | 2 sairaudessa |
| DHRS3dehydrogenase/reductase 3 | Aina | 1 sairaudessa |
| DONSONDNA replication fork stabilization factor DONSON | Aina | 1 sairaudessa |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Aina | 1 sairaudessa |
| EMC10ER membrane protein complex subunit 10 | Aina | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Aina | 1 sairaudessa |
| ERI1exoribonuclease 1 | Aina | 1 sairaudessa |
| ESAMendothelial cell adhesion molecule | Aina | 1 sairaudessa |
| FANCCFA complementation group C | Aina | 1 sairaudessa |
| FANCIFA complementation group I | Aina | 1 sairaudessa |
| FBN1fibrillin 1 | Aina | 1 sairaudessa |
| FLNAfilamin A | Aina | 1 sairaudessa |
| GMPPAGDP-mannose pyrophosphorylase A | Aina | 1 sairaudessa |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Aina | 2 sairaudessa |
| HMGA2high mobility group AT-hook 2 | Aina | 3 sairaudessa |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Aina | 1 sairaudessa |
| INTS11integrator complex subunit 11 | Aina | 1 sairaudessa |
| JAG1jagged canonical Notch ligand 1 | Aina | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Aina | 1 sairaudessa |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Aina | 2 sairaudessa |
| MAFBMAF bZIP transcription factor B | Aina | 2 sairaudessa |
| MED12mediator complex subunit 12 | Aina | 2 sairaudessa |
| MED16mediator complex subunit 16 | Aina | 1 sairaudessa |
| MYOD1myogenic differentiation 1 | Aina | 1 sairaudessa |
| PAPPA2pappalysin 2 | Aina | 1 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Aina | 1 sairaudessa |
| PEX14peroxisomal biogenesis factor 14 | Aina | 1 sairaudessa |
| PEX19peroxisomal biogenesis factor 19 | Aina | 1 sairaudessa |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Aina | 2 sairaudessa |
| PLAG1PLAG1 zinc finger | Aina | 2 sairaudessa |
| POC1APOC1 centriolar protein A | Aina | 1 sairaudessa |
| POLR3ARNA polymerase III subunit A | Aina | 2 sairaudessa |
| PPFIA3PPFI scaffold protein A3 | Aina | 1 sairaudessa |
Näytä 149 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| PPIBpeptidylprolyl isomerase B | Aina | 1 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Aina | 1 sairaudessa |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Aina | 1 sairaudessa |
| RPL17ribosomal protein L17 | Aina | 1 sairaudessa |
| SCARF2scavenger receptor class F member 2 | Aina | 2 sairaudessa |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Aina | 1 sairaudessa |
| SEC31ASEC31 homolog A, COPII component | Aina | 1 sairaudessa |
| SERPINH1serpin family H member 1 | Aina | 1 sairaudessa |
| SLC25A24solute carrier family 25 member 24 | Aina | 1 sairaudessa |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Aina | 2 sairaudessa |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Aina | 1 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Aina | 1 sairaudessa |
| SPOUT1SPOUT domain containing methyltransferase 1 | Aina | 1 sairaudessa |
| SPRTNSprT-like N-terminal domain | Aina | 1 sairaudessa |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Aina | 1 sairaudessa |
| TMEM94transmembrane protein 94 | Aina | 1 sairaudessa |
| TOMM7translocase of outer mitochondrial membrane 7 | Aina | 1 sairaudessa |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Aina | 1 sairaudessa |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Aina | 1 sairaudessa |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| ARXaristaless related homeobox | Hyvin usein (80–99%) | 2 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Hyvin usein (80–99%) | 3 sairaudessa |
| CBLCbl proto-oncogene | Hyvin usein (80–99%) | 2 sairaudessa |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Hyvin usein (80–99%) | 2 sairaudessa |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Hyvin usein (80–99%) | 1 sairaudessa |
| CUL7cullin 7 | Hyvin usein (80–99%) | 2 sairaudessa |
| H19H19 imprinted maternally expressed transcript | Hyvin usein (80–99%) | 2 sairaudessa |
| IGF2insulin like growth factor 2 | Hyvin usein (80–99%) | 5 sairaudessa |
| KAT6Alysine acetyltransferase 6A | Hyvin usein (80–99%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| LZTR1leucine zipper like post translational regulator 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MRASmuscle RAS oncogene homolog | Hyvin usein (80–99%) | 1 sairaudessa |
| MVKmevalonate kinase | Hyvin usein (80–99%) | 2 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| OBSL1obscurin like cytoskeletal adaptor 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PQBP1polyglutamine binding protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PTF1Apancreas associated transcription factor 1a | Hyvin usein (80–99%) | 2 sairaudessa |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Hyvin usein (80–99%) | 4 sairaudessa |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Hyvin usein (80–99%) | 2 sairaudessa |
| RASA2RAS p21 protein activator 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RIT1Ras like without CAAX 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RRASRAS related | Hyvin usein (80–99%) | 1 sairaudessa |
| RRAS2RAS related 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SPRED2sprouty related EVH1 domain containing 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| SRCAPSnf2 related CREBBP activator protein | Hyvin usein (80–99%) | 2 sairaudessa |
| TRIM37tripartite motif containing 37 | Hyvin usein (80–99%) | 1 sairaudessa |
| TRPS1transcriptional repressor GATA binding 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ANKRD17ankyrin repeat domain 17 | Usein (30–79%) | 1 sairaudessa |
| ATP6V1AATPase H+ transporting V1 subunit A | Usein (30–79%) | 1 sairaudessa |
| B9D1B9 domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| BMP1bone morphogenetic protein 1 | Usein (30–79%) | 1 sairaudessa |
| BPTFbromodomain PHD finger transcription factor | Usein (30–79%) | 1 sairaudessa |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Usein (30–79%) | 1 sairaudessa |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Usein (30–79%) | 1 sairaudessa |
| BUB3BUB3 mitotic checkpoint protein | Usein (30–79%) | 1 sairaudessa |
| CDK10cyclin dependent kinase 10 | Usein (30–79%) | 1 sairaudessa |
| EBF3EBF transcription factor 3 | Usein (30–79%) | 2 sairaudessa |
| FBXO22F-box protein 22 | Usein (30–79%) | 1 sairaudessa |
| FKBP10FKBP prolyl isomerase 10 | Usein (30–79%) | 2 sairaudessa |
| FRA10AC1FRA10A associated CGG repeat 1 | Usein (30–79%) | 1 sairaudessa |
| GRB10growth factor receptor bound protein 10 | Usein (30–79%) | 1 sairaudessa |
| IFITM5interferon induced transmembrane protein 5 | Usein (30–79%) | 1 sairaudessa |
| LEMD2LEM domain nuclear envelope protein 2 | Usein (30–79%) | 1 sairaudessa |
| MAU2MAU2 sister chromatid cohesion factor | Usein (30–79%) | 1 sairaudessa |
| MCTP2multiple C2 and transmembrane domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| NFIXnuclear factor I X | Usein (30–79%) | 1 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Usein (30–79%) | 1 sairaudessa |
| PAX7paired box 7 | Usein (30–79%) | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Usein (30–79%) | 2 sairaudessa |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Usein (30–79%) | 1 sairaudessa |
| PRKG2protein kinase cGMP-dependent 2 | Usein (30–79%) | 2 sairaudessa |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Usein (30–79%) | 1 sairaudessa |
| PUS7pseudouridine synthase 7 | Usein (30–79%) | 1 sairaudessa |
| PYCR1pyrroline-5-carboxylate reductase 1 | Usein (30–79%) | 2 sairaudessa |
| RAI1retinoic acid induced 1 | Usein (30–79%) | 3 sairaudessa |
| TBX2T-box transcription factor 2 | Usein (30–79%) | 1 sairaudessa |
| TRIP13thyroid hormone receptor interactor 13 | Usein (30–79%) | 1 sairaudessa |
| TRMT5tRNA methyltransferase 5 | Usein (30–79%) | 1 sairaudessa |
| ZNF148zinc finger protein 148 | Usein (30–79%) | 1 sairaudessa |
| ADGRG6adhesion G protein-coupled receptor G6 | Joskus (5–29%) | 1 sairaudessa |
| BRPF1bromodomain and PHD finger containing 1 | Joskus (5–29%) | 1 sairaudessa |
| DCAF17DDB1 and CUL4 associated factor 17 | Joskus (5–29%) | 2 sairaudessa |
| ELNelastin | Joskus (5–29%) | 1 sairaudessa |
| FBLN5fibulin 5 | Joskus (5–29%) | 1 sairaudessa |
| FBXO11F-box protein 11 | Joskus (5–29%) | 1 sairaudessa |
| FILIP1filamin A interacting protein 1 | Joskus (5–29%) | 1 sairaudessa |
| FOCADfocadhesin | Joskus (5–29%) | 1 sairaudessa |
| H4C5H4 clustered histone 5 | Joskus (5–29%) | 1 sairaudessa |
| JARID2jumonji and AT-rich interaction domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Joskus (5–29%) | 2 sairaudessa |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Joskus (5–29%) | 1 sairaudessa |
| LEMD3LEM domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| MED12Lmediator complex subunit 12L | Joskus (5–29%) | 1 sairaudessa |
| MED13Lmediator complex subunit 13L | Joskus (5–29%) | 2 sairaudessa |
| MTX2metaxin 2 | Joskus (5–29%) | 1 sairaudessa |
| NONOnon-POU domain containing octamer binding | Joskus (5–29%) | 1 sairaudessa |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Joskus (5–29%) | 1 sairaudessa |
| PYCR2pyrroline-5-carboxylate reductase 2 | Joskus (5–29%) | 2 sairaudessa |
| REREarginine-glutamic acid dipeptide repeats | Joskus (5–29%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Joskus (5–29%) | 1 sairaudessa |
| SEC61A1SEC61 translocon subunit alpha 1 | Joskus (5–29%) | 1 sairaudessa |
| SETD5SET domain containing 5 | Joskus (5–29%) | 1 sairaudessa |
| SIN3ASIN3 transcription regulator family member A | Joskus (5–29%) | 1 sairaudessa |
| SMC5structural maintenance of chromosomes 5 | Joskus (5–29%) | 1 sairaudessa |
| SOX6SRY-box transcription factor 6 | Joskus (5–29%) | 1 sairaudessa |
| SPOPspeckle type BTB/POZ protein | Joskus (5–29%) | 1 sairaudessa |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Joskus (5–29%) | 1 sairaudessa |
| TAOK1TAO kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Joskus (5–29%) | 1 sairaudessa |
| WDR83OSWD repeat domain 83 opposite strand | Joskus (5–29%) | 1 sairaudessa |
| ZMYM2zinc finger MYM-type containing 2 | Joskus (5–29%) | 1 sairaudessa |
| ZNF699zinc finger protein 699 | Joskus (5–29%) | 1 sairaudessa |
| BSNDbarttin CLCNK type accessory subunit beta | Harvinainen (1–4 %) | 1 sairaudessa |
| CLCNKAchloride voltage-gated channel Ka | Harvinainen (1–4 %) | 1 sairaudessa |
| CLCNKBchloride voltage-gated channel Kb | Harvinainen (1–4 %) | 1 sairaudessa |
| CTCFCCCTC-binding factor | Harvinainen (1–4 %) | 1 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Harvinainen (1–4 %) | 1 sairaudessa |
| GJA5gap junction protein alpha 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| GJA8gap junction protein alpha 8 | Harvinainen (1–4 %) | 1 sairaudessa |
| MSL2MSL complex subunit 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| PTBP1polypyrimidine tract binding protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| TNNT3troponin T3, fast skeletal type | Harvinainen (1–4 %) | 1 sairaudessa |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Ei kirjattu | 1 sairaudessa |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ei kirjattu | 1 sairaudessa |
| COL1A1collagen type I alpha 1 chain | Ei kirjattu | 1 sairaudessa |
| COL1A2collagen type I alpha 2 chain | Ei kirjattu | 1 sairaudessa |
| FLCNfolliculin | Ei kirjattu | 1 sairaudessa |
| GBA1glucosylceramidase beta 1 | Ei kirjattu | 1 sairaudessa |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ei kirjattu | 1 sairaudessa |
| IGF1Rinsulin like growth factor 1 receptor | Ei kirjattu | 1 sairaudessa |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ei kirjattu | 1 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ei kirjattu | 1 sairaudessa |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Ei kirjattu | 1 sairaudessa |
| MYH3myosin heavy chain 3 | Ei kirjattu | 1 sairaudessa |
| NALCNsodium leak channel, non-selective | Ei kirjattu | 1 sairaudessa |
| NECTIN1nectin cell adhesion molecule 1 | Ei kirjattu | 1 sairaudessa |
| NOTCH2notch receptor 2 | Ei kirjattu | 1 sairaudessa |
| ORC6origin recognition complex subunit 6 | Ei kirjattu | 1 sairaudessa |
| PEX13peroxisomal biogenesis factor 13 | Ei kirjattu | 1 sairaudessa |
| SEC24DSEC24 homolog D, COPII component | Ei kirjattu | 1 sairaudessa |
| SLC45A1solute carrier family 45 member 1 | Ei kirjattu | 1 sairaudessa |
| SPRED1sprouty related EVH1 domain containing 1 | Ei kirjattu | 1 sairaudessa |
| STAG2STAG2 cohesin complex component | Ei kirjattu | 1 sairaudessa |
| TALDO1transaldolase 1 | Ei kirjattu | 1 sairaudessa |
| TNNI2troponin I2, fast skeletal type | Ei kirjattu | 1 sairaudessa |
| UNC80unc-80 subunit of NALCN channel complex | Ei kirjattu | 1 sairaudessa |
| XRCC4X-ray repair cross complementing 4 | 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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