Trait
Capillary malformation
A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).
Summary
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test10 genes linked to Capillary malformation
Changes in these genes cause rare conditions in which Capillary malformation 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 |
|---|---|---|
| EPHB4EPH receptor B4 | Always | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Always | In 3 conditions |
| SPINK5serine peptidase inhibitor Kazal type 5 | Always | In 1 condition |
| STAMBPSTAM binding protein | Always | In 1 condition |
| EIF2AK4eukaryotic translation initiation factor 2 alpha kinase 4 | Very often (80–99%) | In 1 condition |
| RASA1RAS p21 protein activator 1 | Very often (80–99%) | In 2 conditions |
| AKT1AKT serine/threonine kinase 1 | Often (30–79%) | In 1 condition |
| ASXL2ASXL transcriptional regulator 2 | Often (30–79%) | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 2 conditions |
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.
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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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