Træk
Smooth philtrum
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
Resumé
- Også kaldet
- Decreased depth of philtrum, Flat philtrum, Indistinct philtrum, Philtrum, smooth, Shallow philtrum, Simple philtrum
- Kropssystem
- Abnormality of head or neck
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test218 gener knyttet til Smooth philtrum
Ændringer i disse gener forårsager sjældne tilstande, hvor Smooth philtrum ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACER3alkaline ceramidase 3 | Altid | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Altid | I 2 tilstande |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altid | I 1 tilstand |
| ATP9AATPase phospholipid transporting 9A | Altid | I 1 tilstand |
| CEP295centrosomal protein 295 | Altid | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Altid | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Altid | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Altid | I 1 tilstand |
| DHX9DExH-box helicase 9 | Altid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Altid | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Altid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Altid | I 1 tilstand |
| EXOSC1exosome component 1 | Altid | I 1 tilstand |
| GOLGA2golgin A2 | Altid | I 1 tilstand |
| HOXB1homeobox B1 | Altid | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 2 tilstande |
| IRX5iroquois homeobox 5 | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Altid | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Altid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Altid | I 1 tilstand |
| NBNnibrin | Altid | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altid | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Altid | I 1 tilstand |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Altid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altid | I 1 tilstand |
| RECQLRecQ like helicase | Altid | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Altid | I 2 tilstande |
| SMSspermine synthase | Altid | I 2 tilstande |
| SPOPspeckle type BTB/POZ protein | Altid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Altid | I 2 tilstande |
| TCP1t-complex 1 | Altid | I 1 tilstand |
Vis 178 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| TGFB3transforming growth factor beta 3 | Altid | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| WDR37WD repeat domain 37 | Altid | I 1 tilstand |
| ZPR1ZPR1 zinc finger | Altid | I 1 tilstand |
| ADSLadenylosuccinate lyase | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Meget ofte (80–99 %) | I 3 tilstande |
| ATP6V1AATPase H+ transporting V1 subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Meget ofte (80–99 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Meget ofte (80–99 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| CD96CD96 molecule | Meget ofte (80–99 %) | I 1 tilstand |
| CRKLCRK like proto-oncogene, adaptor protein | Meget ofte (80–99 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| MAPK1mitogen-activated protein kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Meget ofte (80–99 %) | I 2 tilstande |
| RELREL proto-oncogene, NF-kB subunit | Meget ofte (80–99 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| XPO1exportin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Meget ofte (80–99 %) | I 2 tilstande |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Ofte (30–79 %) | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ofte (30–79 %) | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Ofte (30–79 %) | I 1 tilstand |
| CERT1ceramide transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 2 tilstande |
| CSNK2Bcasein kinase 2 beta | Ofte (30–79 %) | I 1 tilstand |
| DYMdymeclin | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| EXOC2exocyst complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Ofte (30–79 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Ofte (30–79 %) | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Ofte (30–79 %) | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ofte (30–79 %) | I 2 tilstande |
| KDM5Blysine demethylase 5B | Ofte (30–79 %) | I 1 tilstand |
| LEMD2LEM domain nuclear envelope protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Ofte (30–79 %) | I 1 tilstand |
| MEIS2Meis homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Ofte (30–79 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 2 tilstande |
| PKDCCprotein kinase domain containing, cytoplasmic | Ofte (30–79 %) | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 2 tilstande |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 1 tilstand |
| POLR3GLRNA polymerase III subunit GL | Ofte (30–79 %) | I 1 tilstand |
| PTPRFprotein tyrosine phosphatase receptor type F | Ofte (30–79 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Ofte (30–79 %) | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ofte (30–79 %) | I 1 tilstand |
| QRICH1glutamine rich 1 | Ofte (30–79 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 2 tilstande |
| SATB2SATB homeobox 2 | Ofte (30–79 %) | I 2 tilstande |
| SIN3ASIN3 transcription regulator family member A | Ofte (30–79 %) | I 2 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 2 tilstande |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 1 tilstand |
| STEEP1STING1 ER exit protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TASP1taspase 1 | Ofte (30–79 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| THSD1thrombospondin type 1 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| TMEM147transmembrane protein 147 | Ofte (30–79 %) | I 1 tilstand |
| TPRtranslocated promoter region, nuclear basket protein | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Ofte (30–79 %) | I 1 tilstand |
| TUBGCP2tubulin gamma complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ofte (30–79 %) | I 2 tilstande |
| WDR19WD repeat domain 19 | Ofte (30–79 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Ofte (30–79 %) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Nogle gange (5–29 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 2 tilstande |
| AFF3ALF transcription elongation factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ASH1LASH1 like histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Nogle gange (5–29 %) | I 2 tilstande |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| CDH2cadherin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Nogle gange (5–29 %) | I 1 tilstand |
| CLIC2CLIC family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDX6DEAD-box helicase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DHPSdeoxyhypusine synthase | Nogle gange (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Nogle gange (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nogle gange (5–29 %) | I 2 tilstande |
| EBF3EBF transcription factor 3 | Nogle gange (5–29 %) | I 2 tilstande |
| FAR1fatty acyl-CoA reductase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FEM1Bfem-1 homolog B | Nogle gange (5–29 %) | I 1 tilstand |
| FRA10AC1FRA10A associated CGG repeat 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Nogle gange (5–29 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Nogle gange (5–29 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MID1midline 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MSL3MSL complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Nogle gange (5–29 %) | I 2 tilstande |
| PACS1phosphofurin acidic cluster sorting protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PGM2L1phosphoglucomutase 2 like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nogle gange (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PRIM1DNA primase subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| RAI1retinoic acid induced 1 | Nogle gange (5–29 %) | I 2 tilstande |
| RAP1BRAP1B, member of RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RTTNrotatin | Nogle gange (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMG8SMG8 nonsense mediated mRNA decay factor | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP12thyroid hormone receptor interactor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TTI1TELO2 interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF148zinc finger protein 148 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD17ankyrin repeat domain 17 | Sjældent (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjældent (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjældent (1–4%) | I 1 tilstand |
| H3-3AH3.3 histone A | Sjældent (1–4%) | I 1 tilstand |
| KIF7kinesin family member 7 | Sjældent (1–4%) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Sjældent (1–4%) | I 2 tilstande |
| RNU4-2RNA, U4 small nuclear 2 | Sjældent (1–4%) | I 1 tilstand |
| SMPD4sphingomyelin phosphodiesterase 4 | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ikke registreret | I 1 tilstand |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Ikke registreret | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Ikke registreret | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Ikke registreret | I 1 tilstand |
| FBN1fibrillin 1 | Ikke registreret | I 1 tilstand |
| FLCNfolliculin | Ikke registreret | I 1 tilstand |
| FLNAfilamin A | Ikke registreret | I 1 tilstand |
| MAB21L1mab-21 like 1 | Ikke registreret | I 1 tilstand |
| MAFMAF bZIP transcription factor | Ikke registreret | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registreret | I 1 tilstand |
| MED13mediator complex subunit 13 | Ikke registreret | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Ikke registreret | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ikke registreret | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Ikke registreret | I 1 tilstand |
| PAX3paired box 3 | Ikke registreret | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registreret | I 1 tilstand |
| SETD5SET domain containing 5 | Ikke registreret | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registreret | I 1 tilstand |
| SLC45A1solute carrier family 45 member 1 | Ikke registreret | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ikke registreret | I 1 tilstand |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Ikke registreret | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Ikke registreret | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger