{
  "url": "https://dantelabs.com/traits/arteriovenous-malformation",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "arteriovenous-malformation",
    "id": "HP:0100026",
    "name": "Arteriovenous malformation",
    "definition": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the 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"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-blood-vessel-morphology",
        "name": "Abnormal blood vessel morphology",
        "url": "https://dantelabs.com/traits/abnormal-blood-vessel-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "cerebral-arteriovenous-malformation",
        "name": "Cerebral arteriovenous malformation",
        "genes": 7,
        "url": "https://dantelabs.com/traits/cerebral-arteriovenous-malformation"
      },
      {
        "slug": "arteriovenous-fistula",
        "name": "Arteriovenous fistula",
        "genes": 5,
        "url": "https://dantelabs.com/traits/arteriovenous-fistula"
      },
      {
        "slug": "gastrointestinal-arteriovenous-malformation",
        "name": "Gastrointestinal arteriovenous malformation",
        "genes": 5,
        "url": "https://dantelabs.com/traits/gastrointestinal-arteriovenous-malformation"
      },
      {
        "slug": "pulmonary-arteriovenous-malformation",
        "name": "Pulmonary arteriovenous malformation",
        "genes": 5,
        "url": "https://dantelabs.com/traits/pulmonary-arteriovenous-malformation"
      },
      {
        "slug": "hepatic-arteriovenous-malformation",
        "name": "Hepatic arteriovenous malformation",
        "genes": 4,
        "url": "https://dantelabs.com/traits/hepatic-arteriovenous-malformation"
      },
      {
        "slug": "spinal-arteriovenous-malformation",
        "name": "Spinal arteriovenous malformation",
        "genes": 3,
        "url": "https://dantelabs.com/traits/spinal-arteriovenous-malformation"
      }
    ],
    "genes": [
      {
        "slug": "akt1",
        "symbol": "AKT1",
        "hgnc": "HGNC:391",
        "name": "AKT serine/threonine kinase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/akt1"
      },
      {
        "slug": "arl6ip6",
        "symbol": "ARL6IP6",
        "hgnc": "HGNC:24048",
        "name": "ARF like GTPase 6 interacting protein 6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arl6ip6"
      },
      {
        "slug": "glmn",
        "symbol": "GLMN",
        "hgnc": "HGNC:14373",
        "name": "glomulin, FKBP associated protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glmn"
      },
      {
        "slug": "gna11",
        "symbol": "GNA11",
        "hgnc": "HGNC:4379",
        "name": "G protein subunit alpha 11",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gna11"
      },
      {
        "slug": "gnaq",
        "symbol": "GNAQ",
        "hgnc": "HGNC:4390",
        "name": "G protein subunit alpha q",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnaq"
      },
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "slug": "pten",
        "symbol": "PTEN",
        "hgnc": "HGNC:9588",
        "name": "phosphatase and tensin homolog",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pten"
      },
      {
        "slug": "rasa1",
        "symbol": "RASA1",
        "hgnc": "HGNC:9871",
        "name": "RAS p21 protein activator 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rasa1"
      },
      {
        "slug": "tek",
        "symbol": "TEK",
        "hgnc": "HGNC:11724",
        "name": "TEK receptor tyrosine kinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tek"
      },
      {
        "slug": "acvrl1",
        "symbol": "ACVRL1",
        "hgnc": "HGNC:175",
        "name": "activin A receptor like type 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acvrl1"
      },
      {
        "slug": "cbs",
        "symbol": "CBS",
        "hgnc": "HGNC:1550",
        "name": "cystathionine beta-synthase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cbs"
      },
      {
        "slug": "eng",
        "symbol": "ENG",
        "hgnc": "HGNC:3349",
        "name": "endoglin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eng"
      },
      {
        "slug": "gdf2",
        "symbol": "GDF2",
        "hgnc": "HGNC:4217",
        "name": "growth differentiation factor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdf2"
      },
      {
        "slug": "smad4",
        "symbol": "SMAD4",
        "hgnc": "HGNC:6770",
        "name": "SMAD family member 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad4"
      },
      {
        "slug": "adamts3",
        "symbol": "ADAMTS3",
        "hgnc": "HGNC:219",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adamts3"
      },
      {
        "slug": "arhgap31",
        "symbol": "ARHGAP31",
        "hgnc": "HGNC:29216",
        "name": "Rho GTPase activating protein 31",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arhgap31"
      },
      {
        "slug": "brca1",
        "symbol": "BRCA1",
        "hgnc": "HGNC:1100",
        "name": "BRCA1 DNA repair associated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brca1"
      },
      {
        "slug": "brca2",
        "symbol": "BRCA2",
        "hgnc": "HGNC:1101",
        "name": "BRCA2 DNA repair associated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brca2"
      },
      {
        "slug": "brip1",
        "symbol": "BRIP1",
        "hgnc": "HGNC:20473",
        "name": "BRCA1 interacting DNA helicase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brip1"
      },
      {
        "slug": "ccbe1",
        "symbol": "CCBE1",
        "hgnc": "HGNC:29426",
        "name": "collagen and calcium binding EGF domains 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccbe1"
      },
      {
        "slug": "dll4",
        "symbol": "DLL4",
        "hgnc": "HGNC:2910",
        "name": "delta like canonical Notch ligand 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dll4"
      },
      {
        "slug": "dock6",
        "symbol": "DOCK6",
        "hgnc": "HGNC:19189",
        "name": "dedicator of cytokinesis 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dock6"
      },
      {
        "slug": "eogt",
        "symbol": "EOGT",
        "hgnc": "HGNC:28526",
        "name": "EGF domain specific O-linked N-acetylglucosamine transferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eogt"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "faap100",
        "symbol": "FAAP100",
        "hgnc": "HGNC:26171",
        "name": "FA core complex associated protein 100",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/faap100"
      },
      {
        "slug": "fanca",
        "symbol": "FANCA",
        "hgnc": "HGNC:3582",
        "name": "FA complementation group A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanca"
      },
      {
        "slug": "fancb",
        "symbol": "FANCB",
        "hgnc": "HGNC:3583",
        "name": "FA complementation group B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancb"
      },
      {
        "slug": "fancc",
        "symbol": "FANCC",
        "hgnc": "HGNC:3584",
        "name": "FA complementation group C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancc"
      },
      {
        "slug": "fancd2",
        "symbol": "FANCD2",
        "hgnc": "HGNC:3585",
        "name": "FA complementation group D2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancd2"
      },
      {
        "slug": "fance",
        "symbol": "FANCE",
        "hgnc": "HGNC:3586",
        "name": "FA complementation group E",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fance"
      },
      {
        "slug": "fancf",
        "symbol": "FANCF",
        "hgnc": "HGNC:3587",
        "name": "FA complementation group F",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancf"
      },
      {
        "slug": "fancg",
        "symbol": "FANCG",
        "hgnc": "HGNC:3588",
        "name": "FA complementation group G",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancg"
      },
      {
        "slug": "fanci",
        "symbol": "FANCI",
        "hgnc": "HGNC:25568",
        "name": "FA complementation group I",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanci"
      },
      {
        "slug": "fancl",
        "symbol": "FANCL",
        "hgnc": "HGNC:20748",
        "name": "FA complementation group L",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancl"
      },
      {
        "slug": "fancm",
        "symbol": "FANCM",
        "hgnc": "HGNC:23168",
        "name": "FA complementation group M",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancm"
      },
      {
        "slug": "fat4",
        "symbol": "FAT4",
        "hgnc": "HGNC:23109",
        "name": "FAT atypical cadherin 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fat4"
      },
      {
        "slug": "gusb",
        "symbol": "GUSB",
        "hgnc": "HGNC:4696",
        "name": "glucuronidase beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gusb"
      },
      {
        "slug": "mad2l2",
        "symbol": "MAD2L2",
        "hgnc": "HGNC:6764",
        "name": "mitotic arrest deficient 2 like 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mad2l2"
      },
      {
        "slug": "notch1",
        "symbol": "NOTCH1",
        "hgnc": "HGNC:7881",
        "name": "notch receptor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch1"
      },
      {
        "slug": "palb2",
        "symbol": "PALB2",
        "hgnc": "HGNC:26144",
        "name": "partner and localizer of BRCA2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/palb2"
      },
      {
        "slug": "rad51",
        "symbol": "RAD51",
        "hgnc": "HGNC:9817",
        "name": "RAD51 recombinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51"
      },
      {
        "slug": "rad51c",
        "symbol": "RAD51C",
        "hgnc": "HGNC:9820",
        "name": "RAD51 paralog C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51c"
      },
      {
        "slug": "rbpj",
        "symbol": "RBPJ",
        "hgnc": "HGNC:5724",
        "name": "recombination signal binding protein for immunoglobulin kappa J region",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbpj"
      },
      {
        "slug": "rfwd3",
        "symbol": "RFWD3",
        "hgnc": "HGNC:25539",
        "name": "ring finger and WD repeat domain 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfwd3"
      },
      {
        "slug": "slx4",
        "symbol": "SLX4",
        "hgnc": "HGNC:23845",
        "name": "SLX4 structure-specific endonuclease subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slx4"
      },
      {
        "slug": "ube2t",
        "symbol": "UBE2T",
        "hgnc": "HGNC:25009",
        "name": "ubiquitin conjugating enzyme E2 T",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ube2t"
      },
      {
        "slug": "xrcc2",
        "symbol": "XRCC2",
        "hgnc": "HGNC:12829",
        "name": "X-ray repair cross complementing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xrcc2"
      }
    ]
  }
}