{
  "url": "https://dantelabs.com/traits/papilledema",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "papilledema",
    "id": "HP:0001085",
    "name": "Papilledema",
    "definition": "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-optic-disc-morphology",
        "name": "Abnormal optic disc morphology",
        "url": "https://dantelabs.com/traits/abnormal-optic-disc-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "ift172",
        "symbol": "IFT172",
        "hgnc": "HGNC:30391",
        "name": "intraflagellar transport 172",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift172"
      },
      {
        "slug": "il11ra",
        "symbol": "IL11RA",
        "hgnc": "HGNC:5967",
        "name": "interleukin 11 receptor subunit alpha",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il11ra"
      },
      {
        "slug": "nlrp3",
        "symbol": "NLRP3",
        "hgnc": "HGNC:16400",
        "name": "NLR family pyrin domain containing 3",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nlrp3"
      },
      {
        "slug": "slc4a2",
        "symbol": "SLC4A2",
        "hgnc": "HGNC:11028",
        "name": "solute carrier family 4 member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc4a2"
      },
      {
        "slug": "sost",
        "symbol": "SOST",
        "hgnc": "HGNC:13771",
        "name": "sclerostin",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sost"
      },
      {
        "slug": "uqcrfs1",
        "symbol": "UQCRFS1",
        "hgnc": "HGNC:12587",
        "name": "ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/uqcrfs1"
      },
      {
        "slug": "braf",
        "symbol": "BRAF",
        "hgnc": "HGNC:1097",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/braf"
      },
      {
        "slug": "ctnnb1",
        "symbol": "CTNNB1",
        "hgnc": "HGNC:2514",
        "name": "catenin beta 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctnnb1"
      },
      {
        "slug": "fam111a",
        "symbol": "FAM111A",
        "hgnc": "HGNC:24725",
        "name": "FAM111 trypsin like peptidase A",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fam111a"
      },
      {
        "slug": "akt1",
        "symbol": "AKT1",
        "hgnc": "HGNC:391",
        "name": "AKT serine/threonine kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/akt1"
      },
      {
        "slug": "bap1",
        "symbol": "BAP1",
        "hgnc": "HGNC:950",
        "name": "BRCA1 associated deubiquitinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bap1"
      },
      {
        "slug": "ccnd1",
        "symbol": "CCND1",
        "hgnc": "HGNC:1582",
        "name": "cyclin D1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccnd1"
      },
      {
        "slug": "mmp14",
        "symbol": "MMP14",
        "hgnc": "HGNC:7160",
        "name": "matrix metallopeptidase 14",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp14"
      },
      {
        "slug": "mmp2",
        "symbol": "MMP2",
        "hgnc": "HGNC:7166",
        "name": "matrix metallopeptidase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp2"
      },
      {
        "slug": "nf2",
        "symbol": "NF2",
        "hgnc": "HGNC:7773",
        "name": "NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nf2"
      },
      {
        "slug": "pdgfb",
        "symbol": "PDGFB",
        "hgnc": "HGNC:8800",
        "name": "platelet derived growth factor subunit B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfb"
      },
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "slug": "smarcb1",
        "symbol": "SMARCB1",
        "hgnc": "HGNC:11103",
        "name": "SWI/SNF related BAF chromatin remodeling complex subunit B1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarcb1"
      },
      {
        "slug": "smarce1",
        "symbol": "SMARCE1",
        "hgnc": "HGNC:11109",
        "name": "SWI/SNF related BAF chromatin remodeling complex subunit E1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarce1"
      },
      {
        "slug": "smo",
        "symbol": "SMO",
        "hgnc": "HGNC:11119",
        "name": "smoothened, frizzled class receptor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smo"
      },
      {
        "slug": "sufu",
        "symbol": "SUFU",
        "hgnc": "HGNC:16466",
        "name": "SUFU negative regulator of hedgehog signaling",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sufu"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "hgnc": "HGNC:11730",
        "name": "telomerase reverse transcriptase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tert"
      },
      {
        "slug": "traf7",
        "symbol": "TRAF7",
        "hgnc": "HGNC:20456",
        "name": "TNF receptor associated factor 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/traf7"
      },
      {
        "slug": "vhl",
        "symbol": "VHL",
        "hgnc": "HGNC:12687",
        "name": "von Hippel-Lindau tumor suppressor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vhl"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "frem1",
        "symbol": "FREM1",
        "hgnc": "HGNC:23399",
        "name": "FRAS1 related extracellular matrix 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/frem1"
      },
      {
        "slug": "ptbp1",
        "symbol": "PTBP1",
        "hgnc": "HGNC:9583",
        "name": "polypyrimidine tract binding protein 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptbp1"
      },
      {
        "slug": "ids",
        "symbol": "IDS",
        "hgnc": "HGNC:5389",
        "name": "iduronate 2-sulfatase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ids"
      },
      {
        "slug": "tp53",
        "symbol": "TP53",
        "hgnc": "HGNC:11998",
        "name": "tumor protein p53",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tp53"
      }
    ]
  }
}