{
  "url": "https://dantelabs.com/traits/hypomelanotic-macule",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "hypomelanotic-macule",
    "id": "HP:0009719",
    "name": "Hypomelanotic macule",
    "definition": "Hypomelanotic macules (\"ash leaf spots\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.",
    "synonyms": [
      "Hypomelanotic macules"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "hypopigmented-macule",
        "name": "Hypopigmented macule",
        "url": "https://dantelabs.com/traits/hypopigmented-macule"
      },
      {
        "slug": "hypopigmentation-of-the-skin",
        "name": "Patchy lightened skin",
        "url": "https://dantelabs.com/traits/hypopigmentation-of-the-skin"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "ifng",
        "symbol": "IFNG",
        "hgnc": "HGNC:5438",
        "name": "interferon gamma",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ifng"
      },
      {
        "slug": "tsc1",
        "symbol": "TSC1",
        "hgnc": "HGNC:12362",
        "name": "TSC complex subunit 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tsc1"
      },
      {
        "slug": "tsc2",
        "symbol": "TSC2",
        "hgnc": "HGNC:12363",
        "name": "TSC complex subunit 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tsc2"
      },
      {
        "slug": "krt14",
        "symbol": "KRT14",
        "hgnc": "HGNC:6416",
        "name": "keratin 14",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/krt14"
      },
      {
        "slug": "krt5",
        "symbol": "KRT5",
        "hgnc": "HGNC:6442",
        "name": "keratin 5",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/krt5"
      },
      {
        "slug": "sash1",
        "symbol": "SASH1",
        "hgnc": "HGNC:19182",
        "name": "SAM and SH3 domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sash1"
      },
      {
        "slug": "dnajc21",
        "symbol": "DNAJC21",
        "hgnc": "HGNC:27030",
        "name": "DnaJ heat shock protein family (Hsp40) member C21",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajc21"
      },
      {
        "slug": "pofut1",
        "symbol": "POFUT1",
        "hgnc": "HGNC:14988",
        "name": "protein O-fucosyltransferase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pofut1"
      }
    ]
  }
}