{
  "url": "https://dantelabs.com/traits/venous-malformation",
  "trait": {
    "bundleId": "2026.10.16-c6eea6bf",
    "release": "2026-09-01",
    "slug": "venous-malformation",
    "id": "HP:0012721",
    "name": "Venous malformation",
    "definition": "A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.",
    "synonyms": [
      "Venous malformations"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-cardiovascular-system",
        "name": "Abnormality of the cardiovascular system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-cardiovascular-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-venous-morphology",
        "name": "Abnormal vein",
        "url": "https://dantelabs.com/traits/abnormal-venous-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "frequency": "obligate",
        "diseases": 5,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "slug": "glmn",
        "symbol": "GLMN",
        "hgnc": "HGNC:14373",
        "name": "glomulin, FKBP associated protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glmn"
      },
      {
        "slug": "akt1",
        "symbol": "AKT1",
        "hgnc": "HGNC:391",
        "name": "AKT serine/threonine kinase 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/akt1"
      },
      {
        "slug": "rasa1",
        "symbol": "RASA1",
        "hgnc": "HGNC:9871",
        "name": "RAS p21 protein activator 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rasa1"
      },
      {
        "slug": "alx4",
        "symbol": "ALX4",
        "hgnc": "HGNC:450",
        "name": "ALX homeobox 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alx4"
      },
      {
        "slug": "ccm2",
        "symbol": "CCM2",
        "hgnc": "HGNC:21708",
        "name": "CCM2 scaffold protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccm2"
      },
      {
        "slug": "krit1",
        "symbol": "KRIT1",
        "hgnc": "HGNC:1573",
        "name": "KRIT1 ankyrin repeat containing",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/krit1"
      },
      {
        "slug": "msx2",
        "symbol": "MSX2",
        "hgnc": "HGNC:7392",
        "name": "msh homeobox 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/msx2"
      },
      {
        "slug": "pdcd10",
        "symbol": "PDCD10",
        "hgnc": "HGNC:8761",
        "name": "programmed cell death 10",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdcd10"
      },
      {
        "slug": "tek",
        "symbol": "TEK",
        "hgnc": "HGNC:11724",
        "name": "TEK receptor tyrosine kinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tek"
      }
    ]
  }
}