Trait
Exaggerated cupid's bow
More pronounced paramedian peaks and median notch of the Cupid's bow.
Summary
- Also called
- Cupid bow upper lip, Cupid-bow shaped upper lip, Prominent cupid-bow of upper lip, Cupid's bow, accentuated
- 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 Test46 genes linked to Exaggerated cupid's bow
Changes in these genes cause rare conditions in which Exaggerated cupid's bow 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 |
| DNMT3ADNA methyltransferase 3 alpha | Always | In 1 condition |
| RNU5B-1RNA, U5B small nuclear 1 | Always | In 1 condition |
| SNIP1Smad nuclear interacting protein 1 | Always | In 1 condition |
| SOX4SRY-box transcription factor 4 | Always | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Very often (80–99%) | In 2 conditions |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Very often (80–99%) | In 1 condition |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Very often (80–99%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Very often (80–99%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Very often (80–99%) | In 1 condition |
| EXOC2exocyst complex component 2 | Often (30–79%) | In 1 condition |
| GPC4glypican 4 | Often (30–79%) | In 2 conditions |
| KMT2Alysine methyltransferase 2A | Often (30–79%) | In 1 condition |
| MED25mediator complex subunit 25 | Often (30–79%) | In 1 condition |
| MYT1Lmyelin transcription factor 1 like | Often (30–79%) | In 1 condition |
| SLC35A2solute carrier family 35 member A2 | Often (30–79%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Often (30–79%) | In 1 condition |
| ZNF462zinc finger protein 462 | Often (30–79%) | In 2 conditions |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sometimes (5–29%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sometimes (5–29%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Sometimes (5–29%) | In 1 condition |
| CLCN3Cl-/H+ antiporter 3 | Sometimes (5–29%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| H3-3AH3.3 histone A | Sometimes (5–29%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sometimes (5–29%) | In 2 conditions |
| JARID2jumonji and AT-rich interaction domain containing 2 | Sometimes (5–29%) | In 1 condition |
| KDM2Blysine demethylase 2B | Sometimes (5–29%) | In 1 condition |
| KIF7kinesin family member 7 | Sometimes (5–29%) | In 1 condition |
| MED27mediator complex subunit 27 | Sometimes (5–29%) | In 1 condition |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Sometimes (5–29%) | In 1 condition |
| NRCAMneuronal cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| NXNnucleoredoxin | Sometimes (5–29%) | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Sometimes (5–29%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Sometimes (5–29%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sometimes (5–29%) | In 1 condition |
| SLC1A3solute carrier family 1 member 3 | Sometimes (5–29%) | In 1 condition |
Show 6 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SLC2A1solute carrier family 2 member 1 | Sometimes (5–29%) | In 1 condition |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Sometimes (5–29%) | In 2 conditions |
| TMEM94transmembrane protein 94 | Sometimes (5–29%) | In 1 condition |
| TRIP12thyroid hormone receptor interactor 12 | Sometimes (5–29%) | In 1 condition |
| RALARAS like proto-oncogene A | 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.
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