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Trait

Broad columella

Increased width of the columella.

HPO HP:0010761

Summary

Also called
Columella, broad, Columella, wide, Fullness of columella, Increased width of columella
Body system
Abnormality of head or neck

15 genes linked to Broad columella

Changes in these genes cause rare conditions in which Broad columella 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
EXOSC2exosome component 2AlwaysIn 1 condition
PPP1R21protein phosphatase 1 regulatory subunit 21AlwaysIn 1 condition
RPS6KA3ribosomal protein S6 kinase A3AlwaysIn 1 condition
GJA1gap junction protein alpha 1Very often (80–99%)In 1 condition
ALX4ALX homeobox 4Often (30–79%)In 1 condition
CKAP2Lcytoskeleton associated protein 2LOften (30–79%)In 1 condition
FLI1Fli-1 proto-oncogene, ETS transcription factorOften (30–79%)In 1 condition
HDAC4histone deacetylase 4Often (30–79%)In 1 condition
PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alphaOften (30–79%)In 2 conditions
RDH11retinol dehydrogenase 11Often (30–79%)In 1 condition
TSHZ3teashirt zinc finger homeobox 3Often (30–79%)In 1 condition
CWC27CWC27 spliceosome associated cyclophilinSometimes (5–29%)In 2 conditions
H4C5H4 clustered histone 5Sometimes (5–29%)In 1 condition
ATP6V1E1ATPase H+ transporting V1 subunit E1Not recordedIn 1 condition
ZSWIM6zinc finger SWIM-type containing 6Not 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

Abnormal columella morphology

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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