{
  "url": "https://dantelabs.com/traits/irregular-hyperpigmentation",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "irregular-hyperpigmentation",
    "id": "HP:0007400",
    "name": "Irregular hyperpigmentation",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "hyperpigmentation-of-the-skin",
        "name": "Patchy darkened skin",
        "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin"
      }
    ],
    "narrower": [
      {
        "slug": "hypermelanotic-macule",
        "name": "Hyperpigmented skin patches",
        "genes": 69,
        "url": "https://dantelabs.com/traits/hypermelanotic-macule"
      },
      {
        "slug": "reticular-hyperpigmentation",
        "name": "Reticular hyperpigmentation",
        "genes": 13,
        "url": "https://dantelabs.com/traits/reticular-hyperpigmentation"
      },
      {
        "slug": "spotty-hyperpigmentation",
        "name": "Spotty increased pigmentation",
        "genes": 9,
        "url": "https://dantelabs.com/traits/spotty-hyperpigmentation"
      },
      {
        "slug": "progressive-reticulate-hyperpigmentation",
        "name": "Progressive reticulate hyperpigmentation",
        "genes": 4,
        "url": "https://dantelabs.com/traits/progressive-reticulate-hyperpigmentation"
      },
      {
        "slug": "lip-hyperpigmentation",
        "name": "Darkening of skin of the lips",
        "genes": 2,
        "url": "https://dantelabs.com/traits/lip-hyperpigmentation"
      },
      {
        "slug": "hyperpigmented-streaks",
        "name": "Hyperpigmented streaks",
        "genes": 2,
        "url": "https://dantelabs.com/traits/hyperpigmented-streaks"
      },
      {
        "slug": "linear-hyperpigmentation",
        "name": "Linear hyperpigmentation",
        "genes": 2,
        "url": "https://dantelabs.com/traits/linear-hyperpigmentation"
      },
      {
        "slug": "forehead-hyperpigmentation",
        "name": "Darkening of the forehead",
        "genes": 1,
        "url": "https://dantelabs.com/traits/forehead-hyperpigmentation"
      }
    ],
    "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": "brca1",
        "symbol": "BRCA1",
        "hgnc": "HGNC:1100",
        "name": "BRCA1 DNA repair associated",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brca1"
      },
      {
        "slug": "brca2",
        "symbol": "BRCA2",
        "hgnc": "HGNC:1101",
        "name": "BRCA2 DNA repair associated",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brca2"
      },
      {
        "slug": "brip1",
        "symbol": "BRIP1",
        "hgnc": "HGNC:20473",
        "name": "BRCA1 interacting DNA helicase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brip1"
      },
      {
        "slug": "card14",
        "symbol": "CARD14",
        "hgnc": "HGNC:16446",
        "name": "caspase recruitment domain family member 14",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/card14"
      },
      {
        "slug": "col3a1",
        "symbol": "COL3A1",
        "hgnc": "HGNC:2201",
        "name": "collagen type III alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col3a1"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "faap100",
        "symbol": "FAAP100",
        "hgnc": "HGNC:26171",
        "name": "FA core complex associated protein 100",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/faap100"
      },
      {
        "slug": "fanca",
        "symbol": "FANCA",
        "hgnc": "HGNC:3582",
        "name": "FA complementation group A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanca"
      },
      {
        "slug": "fancb",
        "symbol": "FANCB",
        "hgnc": "HGNC:3583",
        "name": "FA complementation group B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancb"
      },
      {
        "slug": "fancc",
        "symbol": "FANCC",
        "hgnc": "HGNC:3584",
        "name": "FA complementation group C",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancc"
      },
      {
        "slug": "fancd2",
        "symbol": "FANCD2",
        "hgnc": "HGNC:3585",
        "name": "FA complementation group D2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancd2"
      },
      {
        "slug": "fance",
        "symbol": "FANCE",
        "hgnc": "HGNC:3586",
        "name": "FA complementation group E",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fance"
      },
      {
        "slug": "fancf",
        "symbol": "FANCF",
        "hgnc": "HGNC:3587",
        "name": "FA complementation group F",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancf"
      },
      {
        "slug": "fancg",
        "symbol": "FANCG",
        "hgnc": "HGNC:3588",
        "name": "FA complementation group G",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancg"
      },
      {
        "slug": "fanci",
        "symbol": "FANCI",
        "hgnc": "HGNC:25568",
        "name": "FA complementation group I",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanci"
      },
      {
        "slug": "fancl",
        "symbol": "FANCL",
        "hgnc": "HGNC:20748",
        "name": "FA complementation group L",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancl"
      },
      {
        "slug": "fancm",
        "symbol": "FANCM",
        "hgnc": "HGNC:23168",
        "name": "FA complementation group M",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancm"
      },
      {
        "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": "hgd",
        "symbol": "HGD",
        "hgnc": "HGNC:4892",
        "name": "homogentisate 1,2-dioxygenase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hgd"
      },
      {
        "slug": "mad2l2",
        "symbol": "MAD2L2",
        "hgnc": "HGNC:6764",
        "name": "mitotic arrest deficient 2 like 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mad2l2"
      },
      {
        "slug": "palb2",
        "symbol": "PALB2",
        "hgnc": "HGNC:26144",
        "name": "partner and localizer of BRCA2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/palb2"
      },
      {
        "slug": "pten",
        "symbol": "PTEN",
        "hgnc": "HGNC:9588",
        "name": "phosphatase and tensin homolog",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pten"
      },
      {
        "slug": "rad51",
        "symbol": "RAD51",
        "hgnc": "HGNC:9817",
        "name": "RAD51 recombinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51"
      },
      {
        "slug": "rad51c",
        "symbol": "RAD51C",
        "hgnc": "HGNC:9820",
        "name": "RAD51 paralog C",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51c"
      },
      {
        "slug": "rfwd3",
        "symbol": "RFWD3",
        "hgnc": "HGNC:25539",
        "name": "ring finger and WD repeat domain 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfwd3"
      },
      {
        "slug": "slx4",
        "symbol": "SLX4",
        "hgnc": "HGNC:23845",
        "name": "SLX4 structure-specific endonuclease subunit",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slx4"
      },
      {
        "slug": "spink5",
        "symbol": "SPINK5",
        "hgnc": "HGNC:15464",
        "name": "serine peptidase inhibitor Kazal type 5",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spink5"
      },
      {
        "slug": "ube2t",
        "symbol": "UBE2T",
        "hgnc": "HGNC:25009",
        "name": "ubiquitin conjugating enzyme E2 T",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ube2t"
      },
      {
        "slug": "xrcc2",
        "symbol": "XRCC2",
        "hgnc": "HGNC:12829",
        "name": "X-ray repair cross complementing 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xrcc2"
      },
      {
        "slug": "cd28",
        "symbol": "CD28",
        "hgnc": "HGNC:1653",
        "name": "CD28 molecule",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cd28"
      },
      {
        "slug": "col7a1",
        "symbol": "COL7A1",
        "hgnc": "HGNC:2214",
        "name": "collagen type VII alpha 1 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col7a1"
      },
      {
        "slug": "ctla4",
        "symbol": "CTLA4",
        "hgnc": "HGNC:2505",
        "name": "cytotoxic T-lymphocyte associated protein 4",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ctla4"
      },
      {
        "slug": "dnase1l3",
        "symbol": "DNASE1L3",
        "hgnc": "HGNC:2959",
        "name": "deoxyribonuclease 1L3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnase1l3"
      },
      {
        "slug": "gja1",
        "symbol": "GJA1",
        "hgnc": "HGNC:4274",
        "name": "gap junction protein alpha 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gja1"
      },
      {
        "slug": "gjb3",
        "symbol": "GJB3",
        "hgnc": "HGNC:4285",
        "name": "gap junction protein beta 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjb3"
      },
      {
        "slug": "gjb4",
        "symbol": "GJB4",
        "hgnc": "HGNC:4286",
        "name": "gap junction protein beta 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjb4"
      },
      {
        "slug": "hras",
        "symbol": "HRAS",
        "hgnc": "HGNC:5173",
        "name": "HRas proto-oncogene, GTPase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hras"
      },
      {
        "slug": "kdsr",
        "symbol": "KDSR",
        "hgnc": "HGNC:4021",
        "name": "3-ketodihydrosphingosine reductase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdsr"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "lbr",
        "symbol": "LBR",
        "hgnc": "HGNC:6518",
        "name": "lamin B receptor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lbr"
      },
      {
        "slug": "mapre2",
        "symbol": "MAPRE2",
        "hgnc": "HGNC:6891",
        "name": "microtubule associated protein RP/EB family member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mapre2"
      },
      {
        "slug": "nras",
        "symbol": "NRAS",
        "hgnc": "HGNC:7989",
        "name": "NRAS proto-oncogene, GTPase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nras"
      },
      {
        "slug": "tnfrsf1b",
        "symbol": "TNFRSF1B",
        "hgnc": "HGNC:11917",
        "name": "TNF receptor superfamily member 1B",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tnfrsf1b"
      },
      {
        "slug": "tubb",
        "symbol": "TUBB",
        "hgnc": "HGNC:20778",
        "name": "tubulin beta class I",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubb"
      },
      {
        "slug": "casr",
        "symbol": "CASR",
        "hgnc": "HGNC:1514",
        "name": "calcium sensing receptor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/casr"
      },
      {
        "slug": "chn1",
        "symbol": "CHN1",
        "hgnc": "HGNC:1943",
        "name": "chimerin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chn1"
      },
      {
        "slug": "cltrn",
        "symbol": "CLTRN",
        "hgnc": "HGNC:29437",
        "name": "collectrin, amino acid transport regulator",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cltrn"
      },
      {
        "slug": "gna11",
        "symbol": "GNA11",
        "hgnc": "HGNC:4379",
        "name": "G protein subunit alpha 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gna11"
      },
      {
        "slug": "kit",
        "symbol": "KIT",
        "hgnc": "HGNC:6342",
        "name": "KIT proto-oncogene, receptor tyrosine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kit"
      },
      {
        "slug": "mafb",
        "symbol": "MAFB",
        "hgnc": "HGNC:6408",
        "name": "MAF bZIP transcription factor B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mafb"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "pdgfra",
        "symbol": "PDGFRA",
        "hgnc": "HGNC:8803",
        "name": "platelet derived growth factor receptor alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfra"
      },
      {
        "slug": "pdgfrb",
        "symbol": "PDGFRB",
        "hgnc": "HGNC:8804",
        "name": "platelet derived growth factor receptor beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfrb"
      },
      {
        "slug": "sall4",
        "symbol": "SALL4",
        "hgnc": "HGNC:15924",
        "name": "spalt like transcription factor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall4"
      },
      {
        "slug": "sdha",
        "symbol": "SDHA",
        "hgnc": "HGNC:10680",
        "name": "succinate dehydrogenase complex flavoprotein subunit A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdha"
      },
      {
        "slug": "sdhb",
        "symbol": "SDHB",
        "hgnc": "HGNC:10681",
        "name": "succinate dehydrogenase complex iron sulfur subunit B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdhb"
      },
      {
        "slug": "sdhc",
        "symbol": "SDHC",
        "hgnc": "HGNC:10682",
        "name": "succinate dehydrogenase complex subunit C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdhc"
      },
      {
        "slug": "slc6a19",
        "symbol": "SLC6A19",
        "hgnc": "HGNC:27960",
        "name": "solute carrier family 6 member 19",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc6a19"
      },
      {
        "slug": "slf2",
        "symbol": "SLF2",
        "hgnc": "HGNC:17814",
        "name": "SMC5/6 complex localization factor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slf2"
      }
    ]
  }
}