Trait

Absent toenail

Congenital absence of the toenail.

HPO HP:0001802

Also called: Absent toenails
Body system: Abnormality of the integument

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18 genes linked to Absent toenail

Changes in these genes cause rare conditions in which Absent toenail 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
ATP6V1B2ATPase H+ transporting V1 subunit B2	Always	In 2 conditions
APCAPC regulator of Wnt signaling pathway	Often (30–79%)	In 1 condition
BCRBCR activator of RhoGEF and GTPase	Often (30–79%)	In 1 condition
CRKLCRK like proto-oncogene, adaptor protein	Often (30–79%)	In 1 condition
DSPdesmoplakin	Often (30–79%)	In 1 condition
JUPjunction plakoglobin	Often (30–79%)	In 1 condition
KCNN3potassium calcium-activated channel subfamily N member 3	Often (30–79%)	In 1 condition
LRP4LDL receptor related protein 4	Often (30–79%)	In 1 condition
MAPK1mitogen-activated protein kinase 1	Often (30–79%)	In 1 condition
NOTCH1notch receptor 1	Often (30–79%)	In 1 condition
COL7A1collagen type VII alpha 1 chain	Sometimes (5–29%)	In 3 conditions
ERI1exoribonuclease 1	Sometimes (5–29%)	In 1 condition
GPC4glypican 4	Sometimes (5–29%)	In 1 condition
KCNH1potassium voltage-gated channel subfamily H member 1	Sometimes (5–29%)	In 1 condition
KRT14keratin 14	Sometimes (5–29%)	In 1 condition
KRT5keratin 5	Sometimes (5–29%)	In 1 condition
PORCNporcupine O-acyltransferase	Not recorded	In 1 condition
WNT7AWnt family member 7A	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.

Narrower traits

Broader traits

Absent nails Absent/small toenails

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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