{
  "url": "https://dantelabs.com/traits/xanthelasma",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "xanthelasma",
    "id": "HP:0001114",
    "name": "Fatty deposits in skin around the eyes",
    "label": "Xanthelasma",
    "definition": "The presence of xanthomata in the skin of the eyelid.",
    "synonyms": [
      "Fatty deposits on eyelids",
      "Xanthelasma palpebrarum",
      "Xanthoma"
    ],
    "systems": [
      {
        "slug": "abnormality-of-head-or-neck",
        "name": "Abnormality of head or neck",
        "url": "https://dantelabs.com/traits/abnormality-of-head-or-neck"
      },
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "nodular-changes-affecting-the-eyelids",
        "name": "Eyelid nodules",
        "url": "https://dantelabs.com/traits/nodular-changes-affecting-the-eyelids"
      },
      {
        "slug": "xanthomatosis",
        "name": "Yellow bumps of fatty deposits on skin",
        "url": "https://dantelabs.com/traits/xanthomatosis"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "abcg8",
        "symbol": "ABCG8",
        "hgnc": "HGNC:13887",
        "name": "ATP binding cassette subfamily G member 8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcg8"
      },
      {
        "slug": "abca1",
        "symbol": "ABCA1",
        "hgnc": "HGNC:29",
        "name": "ATP binding cassette subfamily A member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abca1"
      },
      {
        "slug": "apoa1",
        "symbol": "APOA1",
        "hgnc": "HGNC:600",
        "name": "apolipoprotein A1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apoa1"
      },
      {
        "slug": "apoe",
        "symbol": "APOE",
        "hgnc": "HGNC:613",
        "name": "apolipoprotein E",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apoe"
      },
      {
        "slug": "il12a",
        "symbol": "IL12A",
        "hgnc": "HGNC:5969",
        "name": "interleukin 12A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il12a"
      },
      {
        "slug": "il12rb1",
        "symbol": "IL12RB1",
        "hgnc": "HGNC:5971",
        "name": "interleukin 12 receptor subunit beta 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il12rb1"
      },
      {
        "slug": "irf5",
        "symbol": "IRF5",
        "hgnc": "HGNC:6120",
        "name": "interferon regulatory factor 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/irf5"
      },
      {
        "slug": "mmel1",
        "symbol": "MMEL1",
        "hgnc": "HGNC:14668",
        "name": "membrane metalloendopeptidase like 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmel1"
      },
      {
        "slug": "pdgfrb",
        "symbol": "PDGFRB",
        "hgnc": "HGNC:8804",
        "name": "platelet derived growth factor receptor beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfrb"
      },
      {
        "slug": "pou2af1",
        "symbol": "POU2AF1",
        "hgnc": "HGNC:9211",
        "name": "POU class 2 homeobox associating factor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pou2af1"
      },
      {
        "slug": "spib",
        "symbol": "SPIB",
        "hgnc": "HGNC:11242",
        "name": "Spi-B transcription factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spib"
      },
      {
        "slug": "stat3",
        "symbol": "STAT3",
        "hgnc": "HGNC:11364",
        "name": "signal transducer and activator of transcription 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stat3"
      },
      {
        "slug": "tnfsf15",
        "symbol": "TNFSF15",
        "hgnc": "HGNC:11931",
        "name": "TNF superfamily member 15",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnfsf15"
      },
      {
        "slug": "tnpo3",
        "symbol": "TNPO3",
        "hgnc": "HGNC:17103",
        "name": "transportin 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnpo3"
      },
      {
        "slug": "lpl",
        "symbol": "LPL",
        "hgnc": "HGNC:6677",
        "name": "lipoprotein lipase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lpl"
      },
      {
        "slug": "slc37a4",
        "symbol": "SLC37A4",
        "hgnc": "HGNC:4061",
        "name": "solute carrier family 37 member 4",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/slc37a4"
      },
      {
        "slug": "spred1",
        "symbol": "SPRED1",
        "hgnc": "HGNC:20249",
        "name": "sprouty related EVH1 domain containing 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spred1"
      },
      {
        "slug": "apoa2",
        "symbol": "APOA2",
        "hgnc": "HGNC:601",
        "name": "apolipoprotein A2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apoa2"
      },
      {
        "slug": "apob",
        "symbol": "APOB",
        "hgnc": "HGNC:603",
        "name": "apolipoprotein B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apob"
      },
      {
        "slug": "cyp27a1",
        "symbol": "CYP27A1",
        "hgnc": "HGNC:2605",
        "name": "cytochrome P450 family 27 subfamily A member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp27a1"
      },
      {
        "slug": "ephx2",
        "symbol": "EPHX2",
        "hgnc": "HGNC:3402",
        "name": "epoxide hydrolase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ephx2"
      },
      {
        "slug": "g6pc1",
        "symbol": "G6PC1",
        "hgnc": "HGNC:4056",
        "name": "glucose-6-phosphatase catalytic subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/g6pc1"
      },
      {
        "slug": "ghr",
        "symbol": "GHR",
        "hgnc": "HGNC:4263",
        "name": "growth hormone receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ghr"
      },
      {
        "slug": "ldlr",
        "symbol": "LDLR",
        "hgnc": "HGNC:6547",
        "name": "low density lipoprotein receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ldlr"
      },
      {
        "slug": "pcsk9",
        "symbol": "PCSK9",
        "hgnc": "HGNC:20001",
        "name": "proprotein convertase subtilisin/kexin type 9",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcsk9"
      },
      {
        "slug": "ppp1r17",
        "symbol": "PPP1R17",
        "hgnc": "HGNC:16973",
        "name": "protein phosphatase 1 regulatory subunit 17",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp1r17"
      },
      {
        "slug": "ttpa",
        "symbol": "TTPA",
        "hgnc": "HGNC:12404",
        "name": "alpha tocopherol transfer protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ttpa"
      }
    ]
  }
}