Trait
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.
Summary
- Also called
- Decreased depth of philtrum, Flat philtrum, Indistinct philtrum, Philtrum, smooth, Shallow philtrum, Simple philtrum
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Smooth philtrum, and the rest of your genome, with one test.
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Get my Genome Test218 genes linked to Smooth philtrum
Changes in these genes cause rare conditions in which Smooth philtrum is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ACER3alkaline ceramidase 3 | Always | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Always | In 2 conditions |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Always | In 1 condition |
| ATP9AATPase phospholipid transporting 9A | Always | In 1 condition |
| CEP295centrosomal protein 295 | Always | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Always | In 1 condition |
| COL3A1collagen type III alpha 1 chain | Always | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Always | In 1 condition |
| DHX9DExH-box helicase 9 | Always | In 1 condition |
| DONSONDNA replication fork stabilization factor DONSON | Always | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Always | In 1 condition |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Always | In 1 condition |
| EP300EP300 lysine acetyltransferase | Always | In 1 condition |
| ESAMendothelial cell adhesion molecule | Always | In 1 condition |
| EXOSC1exosome component 1 | Always | In 1 condition |
| GOLGA2golgin A2 | Always | In 1 condition |
| HOXB1homeobox B1 | Always | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 2 conditions |
| IRX5iroquois homeobox 5 | Always | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KDM6Alysine demethylase 6A | Always | In 1 condition |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Always | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Always | In 1 condition |
| MSL2MSL complex subunit 2 | Always | In 1 condition |
| MYOD1myogenic differentiation 1 | Always | In 1 condition |
| NBNnibrin | Always | In 1 condition |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Always | In 1 condition |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Always | In 1 condition |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Always | In 1 condition |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Always | In 1 condition |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Always | In 1 condition |
| RECQLRecQ like helicase | Always | In 1 condition |
| SEC23ASEC23 homolog A, COPII component | Always | In 2 conditions |
| SMSspermine synthase | Always | In 2 conditions |
| SPOPspeckle type BTB/POZ protein | Always | In 1 condition |
| TAF4TATA-box binding protein associated factor 4 | Always | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Always | In 2 conditions |
| TCP1t-complex 1 | Always | In 1 condition |
Show 178 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| TGFB3transforming growth factor beta 3 | Always | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| UNC13Aunc-13 homolog A | Always | In 1 condition |
| WDR37WD repeat domain 37 | Always | In 1 condition |
| ZPR1ZPR1 zinc finger | Always | In 1 condition |
| ADSLadenylosuccinate lyase | Very often (80–99%) | In 2 conditions |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Very often (80–99%) | In 3 conditions |
| ATP6V1AATPase H+ transporting V1 subunit A | Very often (80–99%) | In 1 condition |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Very often (80–99%) | In 1 condition |
| BCL11ABCL11 transcription factor A | Very often (80–99%) | In 1 condition |
| BCRBCR activator of RhoGEF and GTPase | Very often (80–99%) | In 1 condition |
| CD96CD96 molecule | Very often (80–99%) | In 1 condition |
| CRKLCRK like proto-oncogene, adaptor protein | Very often (80–99%) | In 1 condition |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Very often (80–99%) | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Very often (80–99%) | In 2 conditions |
| MAPK1mitogen-activated protein kinase 1 | Very often (80–99%) | In 1 condition |
| NUP107nucleoporin 107 | Very often (80–99%) | In 2 conditions |
| RELREL proto-oncogene, NF-kB subunit | Very often (80–99%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Very often (80–99%) | In 2 conditions |
| XPO1exportin 1 | Very often (80–99%) | In 1 condition |
| ZBTB18zinc finger and BTB domain containing 18 | Very often (80–99%) | In 2 conditions |
| AHDC1AT-hook DNA binding motif containing 1 | Often (30–79%) | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Often (30–79%) | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Often (30–79%) | In 1 condition |
| CDK10cyclin dependent kinase 10 | Often (30–79%) | In 1 condition |
| CERT1ceramide transporter 1 | Often (30–79%) | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Often (30–79%) | In 2 conditions |
| CSNK2Bcasein kinase 2 beta | Often (30–79%) | In 1 condition |
| DYMdymeclin | Often (30–79%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Often (30–79%) | In 1 condition |
| EMILIN1elastin microfibril interfacer 1 | Often (30–79%) | In 1 condition |
| EXOC2exocyst complex component 2 | Often (30–79%) | In 1 condition |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Often (30–79%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Often (30–79%) | In 1 condition |
| FOXG1forkhead box G1 | Often (30–79%) | In 1 condition |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Often (30–79%) | In 1 condition |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Often (30–79%) | In 1 condition |
| IGF1Rinsulin like growth factor 1 receptor | Often (30–79%) | In 2 conditions |
| KDM5Blysine demethylase 5B | Often (30–79%) | In 1 condition |
| LEMD2LEM domain nuclear envelope protein 2 | Often (30–79%) | In 1 condition |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Often (30–79%) | In 1 condition |
| MEIS2Meis homeobox 2 | Often (30–79%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Often (30–79%) | In 1 condition |
| NOTCH3notch receptor 3 | Often (30–79%) | In 2 conditions |
| PKDCCprotein kinase domain containing, cytoplasmic | Often (30–79%) | In 1 condition |
| PLAAphospholipase A2 activating protein | Often (30–79%) | In 2 conditions |
| POLR3ARNA polymerase III subunit A | Often (30–79%) | In 1 condition |
| POLR3GLRNA polymerase III subunit GL | Often (30–79%) | In 1 condition |
| PTPRFprotein tyrosine phosphatase receptor type F | Often (30–79%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Often (30–79%) | In 1 condition |
| PUS7pseudouridine synthase 7 | Often (30–79%) | In 1 condition |
| QRICH1glutamine rich 1 | Often (30–79%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Often (30–79%) | In 1 condition |
| RPL10ribosomal protein L10 | Often (30–79%) | In 2 conditions |
| SATB2SATB homeobox 2 | Often (30–79%) | In 2 conditions |
| SIN3ASIN3 transcription regulator family member A | Often (30–79%) | In 2 conditions |
| SMC1Astructural maintenance of chromosomes 1A | Often (30–79%) | In 2 conditions |
| SMC3structural maintenance of chromosomes 3 | Often (30–79%) | In 1 condition |
| STEEP1STING1 ER exit protein 1 | Often (30–79%) | In 1 condition |
| SUMF1sulfatase modifying factor 1 | Often (30–79%) | In 1 condition |
| TASP1taspase 1 | Often (30–79%) | In 1 condition |
| THOC6THO complex subunit 6 | Often (30–79%) | In 1 condition |
| THSD1thrombospondin type 1 domain containing 1 | Often (30–79%) | In 1 condition |
| TMEM147transmembrane protein 147 | Often (30–79%) | In 1 condition |
| TPRtranslocated promoter region, nuclear basket protein | Often (30–79%) | In 1 condition |
| TRAPPC9trafficking protein particle complex subunit 9 | Often (30–79%) | In 1 condition |
| TUBGCP2tubulin gamma complex component 2 | Often (30–79%) | In 1 condition |
| UBE3Bubiquitin protein ligase E3B | Often (30–79%) | In 2 conditions |
| WDR19WD repeat domain 19 | Often (30–79%) | In 1 condition |
| ZFXzinc finger protein X-linked | Often (30–79%) | In 1 condition |
| AASSaminoadipate-semialdehyde synthase | Sometimes (5–29%) | In 1 condition |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Sometimes (5–29%) | In 2 conditions |
| AFF3ALF transcription elongation factor 3 | Sometimes (5–29%) | In 1 condition |
| ASH1LASH1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| ATG7autophagy related 7 | Sometimes (5–29%) | In 1 condition |
| ATXN7L3ataxin 7 like 3 | Sometimes (5–29%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Sometimes (5–29%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Sometimes (5–29%) | In 1 condition |
| CDC42cell division cycle 42 | Sometimes (5–29%) | In 2 conditions |
| CDC42BPBCDC42 binding protein kinase beta | Sometimes (5–29%) | In 1 condition |
| CDH2cadherin 2 | Sometimes (5–29%) | In 1 condition |
| CDK13cyclin dependent kinase 13 | Sometimes (5–29%) | In 1 condition |
| CLIC2CLIC family member 2 | Sometimes (5–29%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Sometimes (5–29%) | In 1 condition |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 1 condition |
| DDX6DEAD-box helicase 6 | Sometimes (5–29%) | In 1 condition |
| DHPSdeoxyhypusine synthase | Sometimes (5–29%) | In 1 condition |
| DHX30DExH-box helicase 30 | Sometimes (5–29%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Sometimes (5–29%) | In 2 conditions |
| EBF3EBF transcription factor 3 | Sometimes (5–29%) | In 2 conditions |
| FAR1fatty acyl-CoA reductase 1 | Sometimes (5–29%) | In 1 condition |
| FBXL4F-box and leucine rich repeat protein 4 | Sometimes (5–29%) | In 1 condition |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| FEM1Bfem-1 homolog B | Sometimes (5–29%) | In 1 condition |
| FRA10AC1FRA10A associated CGG repeat 1 | Sometimes (5–29%) | In 1 condition |
| GAD1glutamate decarboxylase 1 | Sometimes (5–29%) | In 1 condition |
| GTF3C3general transcription factor IIIC subunit 3 | Sometimes (5–29%) | In 1 condition |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| HIVEP2HIVEP zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| JARID2jumonji and AT-rich interaction domain containing 2 | Sometimes (5–29%) | In 1 condition |
| KDM5Alysine demethylase 5A | Sometimes (5–29%) | In 1 condition |
| KDM5Clysine demethylase 5C | Sometimes (5–29%) | In 1 condition |
| KIF15kinesin family member 15 | Sometimes (5–29%) | In 1 condition |
| KIF26Akinesin family member 26A | Sometimes (5–29%) | In 1 condition |
| MAN1B1mannosidase alpha class 1B member 1 | Sometimes (5–29%) | In 2 conditions |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sometimes (5–29%) | In 1 condition |
| MID1midline 1 | Sometimes (5–29%) | In 1 condition |
| MSL3MSL complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| NALCNsodium leak channel, non-selective | Sometimes (5–29%) | In 2 conditions |
| PACS1phosphofurin acidic cluster sorting protein 1 | Sometimes (5–29%) | In 2 conditions |
| PGM2L1phosphoglucomutase 2 like 1 | Sometimes (5–29%) | In 1 condition |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Sometimes (5–29%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sometimes (5–29%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
| PRIM1DNA primase subunit 1 | Sometimes (5–29%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Sometimes (5–29%) | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Sometimes (5–29%) | In 2 conditions |
| RAI1retinoic acid induced 1 | Sometimes (5–29%) | In 2 conditions |
| RAP1BRAP1B, member of RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Sometimes (5–29%) | In 1 condition |
| RTTNrotatin | Sometimes (5–29%) | In 1 condition |
| SATB1SATB homeobox 1 | Sometimes (5–29%) | In 1 condition |
| SMG8SMG8 nonsense mediated mRNA decay factor | Sometimes (5–29%) | In 1 condition |
| SONSON DNA and RNA binding protein | Sometimes (5–29%) | In 1 condition |
| SRRM2serine/arginine repetitive matrix 2 | Sometimes (5–29%) | In 1 condition |
| SYT1synaptotagmin 1 | Sometimes (5–29%) | In 2 conditions |
| TBX1T-box transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| TMEM94transmembrane protein 94 | Sometimes (5–29%) | In 1 condition |
| TRIM8tripartite motif containing 8 | Sometimes (5–29%) | In 1 condition |
| TRIP12thyroid hormone receptor interactor 12 | Sometimes (5–29%) | In 1 condition |
| TTI1TELO2 interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| UGDHUDP-glucose 6-dehydrogenase | Sometimes (5–29%) | In 1 condition |
| WBP4WW domain binding protein 4 | Sometimes (5–29%) | In 1 condition |
| ZNF148zinc finger protein 148 | Sometimes (5–29%) | In 1 condition |
| ZNF292zinc finger protein 292 | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| ANKRD17ankyrin repeat domain 17 | Rarely (1–4%) | In 1 condition |
| GJA5gap junction protein alpha 5 | Rarely (1–4%) | In 1 condition |
| GJA8gap junction protein alpha 8 | Rarely (1–4%) | In 1 condition |
| H3-3AH3.3 histone A | Rarely (1–4%) | In 1 condition |
| KIF7kinesin family member 7 | Rarely (1–4%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Rarely (1–4%) | In 2 conditions |
| RNU4-2RNA, U4 small nuclear 2 | Rarely (1–4%) | In 1 condition |
| SMPD4sphingomyelin phosphodiesterase 4 | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| ADAMTSL2ADAMTS like 2 | Not recorded | In 1 condition |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Not recorded | In 1 condition |
| CCBE1collagen and calcium binding EGF domains 1 | Not recorded | In 1 condition |
| COG7component of oligomeric golgi complex 7 | Not recorded | In 1 condition |
| FBN1fibrillin 1 | Not recorded | In 1 condition |
| FLCNfolliculin | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| MAB21L1mab-21 like 1 | Not recorded | In 1 condition |
| MAFMAF bZIP transcription factor | Not recorded | In 1 condition |
| MED12mediator complex subunit 12 | Not recorded | In 1 condition |
| MED13mediator complex subunit 13 | Not recorded | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Not recorded | In 1 condition |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Not recorded | In 1 condition |
| ORC4origin recognition complex subunit 4 | Not recorded | In 1 condition |
| PAX3paired box 3 | Not recorded | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Not recorded | In 1 condition |
| PRDX1peroxiredoxin 1 | Not recorded | In 1 condition |
| SETD5SET domain containing 5 | Not recorded | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Not recorded | In 1 condition |
| SLC45A1solute carrier family 45 member 1 | Not recorded | In 1 condition |
| STAG2STAG2 cohesin complex component | Not recorded | In 1 condition |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Not recorded | In 1 condition |
| TRRAPtransformation/transcription domain associated protein | Not recorded | In 1 condition |
| UNC80unc-80 subunit of NALCN channel complex | Not recorded | In 1 condition |
| USP9Xubiquitin specific peptidase 9 X-linked | Not recorded | In 1 condition |
| WDR35WD repeat domain 35 | Not recorded | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | Not recorded | In 1 condition |
| ZMIZ1zinc finger MIZ-type containing 1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
One test. A lifetime of answers.
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