Trait
port-wine stain
Clinical name: Nevus flammeus
A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.
Summary
- Also called
- Nevus simplex
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
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Get my Genome Test42 genes linked to port-wine stain
Changes in these genes cause rare conditions in which port-wine stain 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 |
|---|---|---|
| IFT140intraflagellar transport 140 | Always | In 1 condition |
| SPTSSAserine palmitoyltransferase small subunit A | Always | In 1 condition |
| TGFB3transforming growth factor beta 3 | Always | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Very often (80–99%) | In 2 conditions |
| GNAQG protein subunit alpha q | Very often (80–99%) | In 2 conditions |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Very often (80–99%) | In 2 conditions |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| TRIM37tripartite motif containing 37 | Often (30–79%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sometimes (5–29%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Sometimes (5–29%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 1 condition |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Sometimes (5–29%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sometimes (5–29%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Sometimes (5–29%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Sometimes (5–29%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Sometimes (5–29%) | In 1 condition |
| H19H19 imprinted maternally expressed transcript | Sometimes (5–29%) | In 1 condition |
| IGF2insulin like growth factor 2 | Sometimes (5–29%) | In 2 conditions |
| LIMK1LIM domain kinase 1 | Sometimes (5–29%) | In 1 condition |
| METTL27methyltransferase like 27 | Sometimes (5–29%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| NEK9NIMA related kinase 9 | Sometimes (5–29%) | In 1 condition |
| NXNnucleoredoxin | Sometimes (5–29%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Sometimes (5–29%) | In 1 condition |
| RFC2replication factor C subunit 2 | Sometimes (5–29%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Sometimes (5–29%) | In 2 conditions |
| SETBP1SET binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Sometimes (5–29%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Sometimes (5–29%) | In 1 condition |
| STX1Asyntaxin 1A | Sometimes (5–29%) | In 1 condition |
| TBL2transducin beta like 2 | Sometimes (5–29%) | In 1 condition |
| TMEM270transmembrane protein 270 | Sometimes (5–29%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Sometimes (5–29%) | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Not recorded | In 1 condition |
| DVL1dishevelled segment polarity protein 1 | Not recorded | In 1 condition |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Not recorded | In 1 condition |
Show 2 more genes
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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