{
  "url": "https://dantelabs.com/traits/cerebral-cavernous-malformation",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "cerebral-cavernous-malformation",
    "id": "HP:0033522",
    "name": "Cerebral cavernous malformation",
    "definition": "A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-cardiovascular-system",
        "name": "Abnormality of the cardiovascular system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-cardiovascular-system"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      },
      {
        "slug": "neoplasm",
        "name": "Abnormal tissue mass",
        "url": "https://dantelabs.com/traits/neoplasm"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-cerebral-vascular-morphology",
        "name": "Abnormality of the cerebral blood vessels",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-vascular-morphology"
      },
      {
        "slug": "cavernous-hemangioma",
        "name": "Collection of dilated blood vessels that forms mass",
        "url": "https://dantelabs.com/traits/cavernous-hemangioma"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "ccm2",
        "symbol": "CCM2",
        "hgnc": "HGNC:21708",
        "name": "CCM2 scaffold protein",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/ccm2"
      },
      {
        "slug": "krit1",
        "symbol": "KRIT1",
        "hgnc": "HGNC:1573",
        "name": "KRIT1 ankyrin repeat containing",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/krit1"
      },
      {
        "slug": "map3k3",
        "symbol": "MAP3K3",
        "hgnc": "HGNC:6855",
        "name": "mitogen-activated protein kinase kinase kinase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/map3k3"
      },
      {
        "slug": "pdcd10",
        "symbol": "PDCD10",
        "hgnc": "HGNC:8761",
        "name": "programmed cell death 10",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/pdcd10"
      },
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "slug": "atp2b1",
        "symbol": "ATP2B1",
        "hgnc": "HGNC:814",
        "name": "ATPase plasma membrane Ca2+ transporting 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp2b1"
      }
    ]
  }
}