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Trait

Acral ulceration

A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.

HPO HP:0006121

Summary

Body system
Abnormality of the integument

9 genes linked to Acral ulceration

Changes in these genes cause rare conditions in which Acral ulceration 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
KIF1Akinesin family member 1AAlwaysIn 2 conditions
RETREG1reticulophagy regulator 1AlwaysIn 2 conditions
CCT5chaperonin containing TCP1 subunit 5Sometimes (5–29%)In 2 conditions
MPV17mitochondrial inner membrane protein MPV17Not recordedIn 1 condition
NGFnerve growth factorNot recordedIn 1 condition
NTRK1neurotrophic receptor tyrosine kinase 1Not recordedIn 1 condition
SCN9Asodium voltage-gated channel alpha subunit 9Not recordedIn 1 condition
SPTLC1serine palmitoyltransferase long chain base subunit 1Not recordedIn 1 condition
WNK1WNK lysine deficient protein kinase 1Not 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

Digital ulcer

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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