Trait
Chilblains
Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.
Summary
- Also called
- Chilblain lesions
Reference genomeGRCh38hg38
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Get my Genome Test13 genes linked to Chilblains
Changes in these genes cause rare conditions in which Chilblains 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 |
|---|---|---|
| ATXN7L3ataxin 7 like 3 | Always | In 1 condition |
| C1QBcomplement C1q B chain | Always | In 1 condition |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Always | In 3 conditions |
| TREX1three prime repair exonuclease 1 | Always | In 3 conditions |
| ADARadenosine deaminase RNA specific | Often (30–79%) | In 2 conditions |
| DNASE2deoxyribonuclease 2, lysosomal | Often (30–79%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Often (30–79%) | In 2 conditions |
| LSM11LSM11, U7 small nuclear RNA associated | Often (30–79%) | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Often (30–79%) | In 1 condition |
| RNASEH2Bribonuclease H2 subunit B | Often (30–79%) | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Often (30–79%) | In 2 conditions |
| RNU7-1RNA, U7 small nuclear 1 | Often (30–79%) | In 2 conditions |
| ADA2adenosine deaminase 2 | Sometimes (5–29%) | 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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