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Trait

Full upper lip

Clinical name: Thick upper lip vermilion

Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).

HPO HP:0000215

Summary

Also called
Increased volume of upper lip, Plump upper lip, Prominent upper lip, Thick red part of the upper lip, Thick upper lip, Full upper lip vermilion, Increased height of upper lip vermilion, Increased volume of upper lip vermilion, Thick vermilion border of upper lip
Body system
Abnormality of head or neck

29 genes linked to Full upper lip

Changes in these genes cause rare conditions in which Full upper lip 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.

GeneHow often it is seenConditions
ARID2AT-rich interaction domain 2AlwaysIn 1 condition
BORCS8BLOC-1 related complex subunit 8AlwaysIn 1 condition
DONSONDNA replication fork stabilization factor DONSONAlwaysIn 1 condition
DVL1dishevelled segment polarity protein 1AlwaysIn 1 condition
PAK3p21 (RAC1) activated kinase 3AlwaysIn 1 condition
SC5Dsterol-C5-desaturaseAlwaysIn 1 condition
STRADASTE20 related adaptor alphaAlwaysIn 1 condition
COL11A1collagen type XI alpha 1 chainVery often (80–99%)In 2 conditions
TWIST2twist family bHLH transcription factor 2Very often (80–99%)In 1 condition
WDR26WD repeat domain 26Very often (80–99%)In 1 condition
APCAPC regulator of Wnt signaling pathwayOften (30–79%)In 1 condition
CILK1ciliogenesis associated kinase 1Often (30–79%)In 1 condition
TOE1target of EGR1, exonucleaseOften (30–79%)In 2 conditions
CDK13cyclin dependent kinase 13Sometimes (5–29%)In 1 condition
EBF3EBF transcription factor 3Sometimes (5–29%)In 1 condition
KDM4Blysine demethylase 4BSometimes (5–29%)In 1 condition
NAA20N-alpha-acetyltransferase 20, NatB catalytic subunitSometimes (5–29%)In 1 condition
THOC6THO complex subunit 6Sometimes (5–29%)In 1 condition
TMEM53transmembrane protein 53Sometimes (5–29%)In 1 condition
AFG2BAAA ATPase AFG2BRarely (1–4%)In 1 condition
ABCC9ATP binding cassette subfamily C member 9Not recordedIn 1 condition
BRCA1BRCA1 DNA repair associatedNot recordedIn 1 condition
DENND5ADENN domain containing 5ANot recordedIn 1 condition
GPC4glypican 4Not recordedIn 1 condition
NAA10N-alpha-acetyltransferase 10, NatA catalytic subunitNot recordedIn 1 condition
NOGnogginNot recordedIn 1 condition
NSUN2NOP2/Sun RNA methyltransferase 2Not recordedIn 1 condition
RPS7ribosomal protein S7Not recordedIn 1 condition
VPS51VPS51 subunit of GARP complexNot recordedIn 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

Abnormality of the red part of the upper lipFull lips

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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