Tunnus
Triangular face
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Kokkuvõte
- Teised nimetused
- Face with broad temples and narrow chin, Triangular facial shape, Inverted triangular face, Triangular facies
- Kehasüsteem
- Abnormality of head or neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Triangular face, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test189 geeni on seotud tunnusega Triangular face
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Triangular face. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Alati | Esineb 2 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Alati | Esineb 1 haiguses |
| ANKRD11ankyrin repeat domain 11 | Alati | Esineb 3 haiguses |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Alati | Esineb 1 haiguses |
| BUD13BUD13 spliceosome associated protein | Alati | Esineb 1 haiguses |
| CAV1caveolin 1 | Alati | Esineb 1 haiguses |
| CDC6cell division cycle 6 | Alati | Esineb 1 haiguses |
| CEP57centrosomal protein 57 | Alati | Esineb 2 haiguses |
| DHRS3dehydrogenase/reductase 3 | Alati | Esineb 1 haiguses |
| DONSONDNA replication fork stabilization factor DONSON | Alati | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alati | Esineb 1 haiguses |
| EMC10ER membrane protein complex subunit 10 | Alati | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Alati | Esineb 1 haiguses |
| ERI1exoribonuclease 1 | Alati | Esineb 1 haiguses |
| ESAMendothelial cell adhesion molecule | Alati | Esineb 1 haiguses |
| FANCCFA complementation group C | Alati | Esineb 1 haiguses |
| FANCIFA complementation group I | Alati | Esineb 1 haiguses |
| FBN1fibrillin 1 | Alati | Esineb 1 haiguses |
| FLNAfilamin A | Alati | Esineb 1 haiguses |
| GMPPAGDP-mannose pyrophosphorylase A | Alati | Esineb 1 haiguses |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Alati | Esineb 2 haiguses |
| HMGA2high mobility group AT-hook 2 | Alati | Esineb 3 haiguses |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Alati | Esineb 1 haiguses |
| INTS11integrator complex subunit 11 | Alati | Esineb 1 haiguses |
| JAG1jagged canonical Notch ligand 1 | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Alati | Esineb 2 haiguses |
| MAFBMAF bZIP transcription factor B | Alati | Esineb 2 haiguses |
| MED12mediator complex subunit 12 | Alati | Esineb 2 haiguses |
| MED16mediator complex subunit 16 | Alati | Esineb 1 haiguses |
| MYOD1myogenic differentiation 1 | Alati | Esineb 1 haiguses |
| PAPPA2pappalysin 2 | Alati | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Alati | Esineb 1 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Alati | Esineb 1 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Alati | Esineb 1 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Alati | Esineb 2 haiguses |
| PLAG1PLAG1 zinc finger | Alati | Esineb 2 haiguses |
| POC1APOC1 centriolar protein A | Alati | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Alati | Esineb 2 haiguses |
| PPFIA3PPFI scaffold protein A3 | Alati | Esineb 1 haiguses |
Näita veel 149 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PPIBpeptidylprolyl isomerase B | Alati | Esineb 1 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alati | Esineb 1 haiguses |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Alati | Esineb 1 haiguses |
| RPL17ribosomal protein L17 | Alati | Esineb 1 haiguses |
| SCARF2scavenger receptor class F member 2 | Alati | Esineb 2 haiguses |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Alati | Esineb 1 haiguses |
| SEC31ASEC31 homolog A, COPII component | Alati | Esineb 1 haiguses |
| SERPINH1serpin family H member 1 | Alati | Esineb 1 haiguses |
| SLC25A24solute carrier family 25 member 24 | Alati | Esineb 1 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Alati | Esineb 2 haiguses |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Alati | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Alati | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| SPRTNSprT-like N-terminal domain | Alati | Esineb 1 haiguses |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Alati | Esineb 1 haiguses |
| TMEM94transmembrane protein 94 | Alati | Esineb 1 haiguses |
| TOMM7translocase of outer mitochondrial membrane 7 | Alati | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alati | Esineb 1 haiguses |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alati | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARXaristaless related homeobox | Väga sageli (80–99%) | Esineb 2 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 3 haiguses |
| CBLCbl proto-oncogene | Väga sageli (80–99%) | Esineb 2 haiguses |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Väga sageli (80–99%) | Esineb 2 haiguses |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Väga sageli (80–99%) | Esineb 1 haiguses |
| CUL7cullin 7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| H19H19 imprinted maternally expressed transcript | Väga sageli (80–99%) | Esineb 2 haiguses |
| IGF2insulin like growth factor 2 | Väga sageli (80–99%) | Esineb 5 haiguses |
| KAT6Alysine acetyltransferase 6A | Väga sageli (80–99%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MRASmuscle RAS oncogene homolog | Väga sageli (80–99%) | Esineb 1 haiguses |
| MVKmevalonate kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| NRASNRAS proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| OBSL1obscurin like cytoskeletal adaptor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PQBP1polyglutamine binding protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PTF1Apancreas associated transcription factor 1a | Väga sageli (80–99%) | Esineb 2 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Väga sageli (80–99%) | Esineb 4 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| RASA2RAS p21 protein activator 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RIT1Ras like without CAAX 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RRASRAS related | Väga sageli (80–99%) | Esineb 1 haiguses |
| RRAS2RAS related 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Väga sageli (80–99%) | Esineb 2 haiguses |
| TRIM37tripartite motif containing 37 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRPS1transcriptional repressor GATA binding 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ANKRD17ankyrin repeat domain 17 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| B9D1B9 domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BMP1bone morphogenetic protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BPTFbromodomain PHD finger transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Sageli (30–79%) | Esineb 1 haiguses |
| BUB3BUB3 mitotic checkpoint protein | Sageli (30–79%) | Esineb 1 haiguses |
| CDK10cyclin dependent kinase 10 | Sageli (30–79%) | Esineb 1 haiguses |
| EBF3EBF transcription factor 3 | Sageli (30–79%) | Esineb 2 haiguses |
| FBXO22F-box protein 22 | Sageli (30–79%) | Esineb 1 haiguses |
| FKBP10FKBP prolyl isomerase 10 | Sageli (30–79%) | Esineb 2 haiguses |
| FRA10AC1FRA10A associated CGG repeat 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GRB10growth factor receptor bound protein 10 | Sageli (30–79%) | Esineb 1 haiguses |
| IFITM5interferon induced transmembrane protein 5 | Sageli (30–79%) | Esineb 1 haiguses |
| LEMD2LEM domain nuclear envelope protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Sageli (30–79%) | Esineb 1 haiguses |
| MCTP2multiple C2 and transmembrane domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Sageli (30–79%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PAX7paired box 7 | Sageli (30–79%) | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sageli (30–79%) | Esineb 2 haiguses |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PRKG2protein kinase cGMP-dependent 2 | Sageli (30–79%) | Esineb 2 haiguses |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PUS7pseudouridine synthase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| RAI1retinoic acid induced 1 | Sageli (30–79%) | Esineb 3 haiguses |
| TBX2T-box transcription factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TRIP13thyroid hormone receptor interactor 13 | Sageli (30–79%) | Esineb 1 haiguses |
| TRMT5tRNA methyltransferase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF148zinc finger protein 148 | Sageli (30–79%) | Esineb 1 haiguses |
| ADGRG6adhesion G protein-coupled receptor G6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRPF1bromodomain and PHD finger containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DCAF17DDB1 and CUL4 associated factor 17 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ELNelastin | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBLN5fibulin 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FILIP1filamin A interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOCADfocadhesin | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JARID2jumonji and AT-rich interaction domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LEMD3LEM domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12Lmediator complex subunit 12L | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED13Lmediator complex subunit 13L | Mõnikord (5–29%) | Esineb 2 haiguses |
| MTX2metaxin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NONOnon-POU domain containing octamer binding | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEC61A1SEC61 translocon subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETD5SET domain containing 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC5structural maintenance of chromosomes 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX6SRY-box transcription factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPOPspeckle type BTB/POZ protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TAOK1TAO kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR83OSWD repeat domain 83 opposite strand | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZMYM2zinc finger MYM-type containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF699zinc finger protein 699 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BSNDbarttin CLCNK type accessory subunit beta | Harva (1–4%) | Esineb 1 haiguses |
| CLCNKAchloride voltage-gated channel Ka | Harva (1–4%) | Esineb 1 haiguses |
| CLCNKBchloride voltage-gated channel Kb | Harva (1–4%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Harva (1–4%) | Esineb 1 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Harva (1–4%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Harva (1–4%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Harva (1–4%) | Esineb 1 haiguses |
| MSL2MSL complex subunit 2 | Harva (1–4%) | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| TNNT3troponin T3, fast skeletal type | Harva (1–4%) | Esineb 1 haiguses |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Pole registreeritud | Esineb 1 haiguses |
| COL1A1collagen type I alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| COL1A2collagen type I alpha 2 chain | Pole registreeritud | Esineb 1 haiguses |
| FLCNfolliculin | Pole registreeritud | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Pole registreeritud | Esineb 1 haiguses |
| IGF1Rinsulin like growth factor 1 receptor | Pole registreeritud | Esineb 1 haiguses |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Pole registreeritud | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Pole registreeritud | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Pole registreeritud | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Pole registreeritud | Esineb 1 haiguses |
| NECTIN1nectin cell adhesion molecule 1 | Pole registreeritud | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| ORC6origin recognition complex subunit 6 | Pole registreeritud | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Pole registreeritud | Esineb 1 haiguses |
| SEC24DSEC24 homolog D, COPII component | Pole registreeritud | Esineb 1 haiguses |
| SLC45A1solute carrier family 45 member 1 | Pole registreeritud | Esineb 1 haiguses |
| SPRED1sprouty related EVH1 domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| STAG2STAG2 cohesin complex component | Pole registreeritud | Esineb 1 haiguses |
| TALDO1transaldolase 1 | Pole registreeritud | Esineb 1 haiguses |
| TNNI2troponin I2, fast skeletal type | Pole registreeritud | Esineb 1 haiguses |
| UNC80unc-80 subunit of NALCN channel complex | Pole registreeritud | Esineb 1 haiguses |
| XRCC4X-ray repair cross complementing 4 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast