Trait
Deep philtrum
Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.
Summary
- Also called
- Increased depth of philtrum, Philtrum, deep, Prominent philtrum, Pronounced philtrum
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test89 genes linked to Deep philtrum
Changes in these genes cause rare conditions in which Deep 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 |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Always | In 1 condition |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Always | In 1 condition |
| AUTS2activator of transcription and developmental regulator AUTS2 | Always | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Always | In 2 conditions |
| FLNAfilamin A | Always | In 1 condition |
| IL6STinterleukin 6 cytokine family signal transducer | Always | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Always | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Always | In 2 conditions |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| RYR1ryanodine receptor 1 | Always | In 1 condition |
| SPIN4spindlin family member 4 | Always | In 1 condition |
| TAF4TATA-box binding protein associated factor 4 | Always | In 1 condition |
| TCF4transcription factor 4 | Always | In 1 condition |
| EXT1exostosin glycosyltransferase 1 | Very often (80–99%) | In 1 condition |
| NBNnibrin | Very often (80–99%) | In 2 conditions |
| RAD21RAD21 cohesin complex component | Very often (80–99%) | In 1 condition |
| TFAP2Atranscription factor AP-2 alpha | Very often (80–99%) | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Very often (80–99%) | In 2 conditions |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Often (30–79%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| CBLCbl proto-oncogene | Often (30–79%) | In 1 condition |
| CDKL5cyclin dependent kinase like 5 | Often (30–79%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Often (30–79%) | In 1 condition |
| EBF3EBF transcription factor 3 | Often (30–79%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Often (30–79%) | In 1 condition |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Often (30–79%) | In 1 condition |
| GON4Lgon-4 like | Often (30–79%) | In 1 condition |
| H4C9H4 clustered histone 9 | Often (30–79%) | In 1 condition |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Often (30–79%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Often (30–79%) | In 1 condition |
| INTS1integrator complex subunit 1 | Often (30–79%) | In 1 condition |
| KCNK4potassium two pore domain channel subfamily K member 4 | Often (30–79%) | In 1 condition |
| KICS2KICSTOR subunit 2 | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Often (30–79%) | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Often (30–79%) | In 1 condition |
| MEG3maternally expressed 3 | Often (30–79%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Often (30–79%) | In 1 condition |
| PGBD5piggyBac transposable element derived 5 | Often (30–79%) | In 1 condition |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Often (30–79%) | In 1 condition |
Show 49 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PURApurine rich element binding protein A | Often (30–79%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Often (30–79%) | In 1 condition |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Often (30–79%) | In 1 condition |
| SLC6A1solute carrier family 6 member 1 | Often (30–79%) | In 1 condition |
| SLC6A11solute carrier family 6 member 11 | Often (30–79%) | In 1 condition |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Often (30–79%) | In 1 condition |
| WDR83OSWD repeat domain 83 opposite strand | Often (30–79%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Often (30–79%) | In 1 condition |
| COG8component of oligomeric golgi complex 8 | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Sometimes (5–29%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Sometimes (5–29%) | In 1 condition |
| DPYDdihydropyrimidine dehydrogenase | Sometimes (5–29%) | In 1 condition |
| GNB2G protein subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| H3-3AH3.3 histone A | Sometimes (5–29%) | In 1 condition |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| JARID2jumonji and AT-rich interaction domain containing 2 | Sometimes (5–29%) | In 1 condition |
| KDM2Blysine demethylase 2B | Sometimes (5–29%) | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Sometimes (5–29%) | In 1 condition |
| MARK2microtubule affinity regulating kinase 2 | Sometimes (5–29%) | In 1 condition |
| MYH8myosin heavy chain 8 | Sometimes (5–29%) | In 1 condition |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Sometimes (5–29%) | In 1 condition |
| NOVA2NOVA alternative splicing regulator 2 | Sometimes (5–29%) | In 1 condition |
| NRCAMneuronal cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sometimes (5–29%) | In 1 condition |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
| SLC35C1solute carrier family 35 member C1 | Sometimes (5–29%) | In 1 condition |
| SNX14sorting nexin 14 | Sometimes (5–29%) | In 1 condition |
| TOE1target of EGR1, exonuclease | Sometimes (5–29%) | In 1 condition |
| UBE2Aubiquitin conjugating enzyme E2 A | Sometimes (5–29%) | In 1 condition |
| ZNF148zinc finger protein 148 | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Rarely (1–4%) | In 1 condition |
| SMPD4sphingomyelin phosphodiesterase 4 | Rarely (1–4%) | In 1 condition |
| CHSY1chondroitin sulfate synthase 1 | Not recorded | In 1 condition |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Not recorded | In 1 condition |
| FBN1fibrillin 1 | Not recorded | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| KIF11kinesin family member 11 | Not recorded | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Not recorded | In 1 condition |
| MED12mediator complex subunit 12 | Not recorded | In 1 condition |
| MGPmatrix Gla protein | Not recorded | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Not recorded | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Not recorded | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Not recorded | In 1 condition |
| PAM16presequence translocase associated motor 16 | Not recorded | In 1 condition |
| PBX1PBX homeobox 1 | Not recorded | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Not recorded | In 1 condition |
| SMOC1SPARC related modular calcium binding 1 | Not recorded | In 1 condition |
| TALDO1transaldolase 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.
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