{
  "url": "https://dantelabs.com/traits/hypermelanotic-macule",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "hypermelanotic-macule",
    "id": "HP:0001034",
    "name": "Hyperpigmented skin patches",
    "label": "Hypermelanotic macule",
    "definition": "A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.",
    "synonyms": [
      "Hyperpigmented spots",
      "Hyperpigmented macules"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "macule",
        "name": "Flat, discolored area of skin",
        "url": "https://dantelabs.com/traits/macule"
      },
      {
        "slug": "irregular-hyperpigmentation",
        "name": "Irregular hyperpigmentation",
        "url": "https://dantelabs.com/traits/irregular-hyperpigmentation"
      }
    ],
    "narrower": [
      {
        "slug": "cafe-au-lait-spot",
        "name": "Birthmark",
        "genes": 90,
        "url": "https://dantelabs.com/traits/cafe-au-lait-spot"
      },
      {
        "slug": "multiple-lentigines",
        "name": "Liver spots",
        "genes": 17,
        "url": "https://dantelabs.com/traits/multiple-lentigines"
      },
      {
        "slug": "large-cafe-au-lait-macules-with-irregular-margins",
        "name": "Large cafe-au-lait macules with irregular margins",
        "genes": 4,
        "url": "https://dantelabs.com/traits/large-cafe-au-lait-macules-with-irregular-margins"
      },
      {
        "slug": "mongolian-blue-spot",
        "name": "Mongolian blue spot",
        "genes": 3,
        "url": "https://dantelabs.com/traits/mongolian-blue-spot"
      },
      {
        "slug": "macular-hyperpigmented-dermopathy",
        "name": "Macular hyperpigmented dermopathy",
        "genes": 1,
        "url": "https://dantelabs.com/traits/macular-hyperpigmented-dermopathy"
      }
    ],
    "genes": [
      {
        "slug": "ankle2",
        "symbol": "ANKLE2",
        "hgnc": "HGNC:29101",
        "name": "ankyrin repeat and LEM domain containing 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ankle2"
      },
      {
        "slug": "ddx11",
        "symbol": "DDX11",
        "hgnc": "HGNC:2736",
        "name": "DEAD/H-box helicase 11",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddx11"
      },
      {
        "slug": "ercc6",
        "symbol": "ERCC6",
        "hgnc": "HGNC:3438",
        "name": "ERCC excision repair 6, chromatin remodeling factor",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/ercc6"
      },
      {
        "slug": "kitlg",
        "symbol": "KITLG",
        "hgnc": "HGNC:6343",
        "name": "KIT ligand",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kitlg"
      },
      {
        "slug": "lztr1",
        "symbol": "LZTR1",
        "hgnc": "HGNC:6742",
        "name": "leucine zipper like post translational regulator 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lztr1"
      },
      {
        "slug": "sash1",
        "symbol": "SASH1",
        "hgnc": "HGNC:19182",
        "name": "SAM and SH3 domain containing 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sash1"
      },
      {
        "slug": "smarcal1",
        "symbol": "SMARCAL1",
        "hgnc": "HGNC:11102",
        "name": "SNF2 related chromatin remodeling annealing helicase 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/smarcal1"
      },
      {
        "slug": "stk11",
        "symbol": "STK11",
        "hgnc": "HGNC:11389",
        "name": "serine/threonine kinase 11",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stk11"
      },
      {
        "slug": "xpa",
        "symbol": "XPA",
        "hgnc": "HGNC:12814",
        "name": "XPA, DNA damage recognition and repair factor",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/xpa"
      },
      {
        "slug": "abcb6",
        "symbol": "ABCB6",
        "hgnc": "HGNC:47",
        "name": "ATP binding cassette subfamily B member 6 (LAN blood group)",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/abcb6"
      },
      {
        "slug": "acd",
        "symbol": "ACD",
        "hgnc": "HGNC:25070",
        "name": "ACD shelterin complex subunit and telomerase recruitment factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acd"
      },
      {
        "slug": "actb",
        "symbol": "ACTB",
        "hgnc": "HGNC:132",
        "name": "actin beta",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/actb"
      },
      {
        "slug": "atp2a2",
        "symbol": "ATP2A2",
        "hgnc": "HGNC:812",
        "name": "ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/atp2a2"
      },
      {
        "slug": "ctc1",
        "symbol": "CTC1",
        "hgnc": "HGNC:26169",
        "name": "CST telomere replication complex component 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctc1"
      },
      {
        "slug": "cyba",
        "symbol": "CYBA",
        "hgnc": "HGNC:2577",
        "name": "cytochrome b-245 alpha chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyba"
      },
      {
        "slug": "cybb",
        "symbol": "CYBB",
        "hgnc": "HGNC:2578",
        "name": "cytochrome b-245 beta chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cybb"
      },
      {
        "slug": "cybc1",
        "symbol": "CYBC1",
        "hgnc": "HGNC:28672",
        "name": "cytochrome b-245 chaperone 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cybc1"
      },
      {
        "slug": "dkc1",
        "symbol": "DKC1",
        "hgnc": "HGNC:2890",
        "name": "dyskerin pseudouridine synthase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dkc1"
      },
      {
        "slug": "gja1",
        "symbol": "GJA1",
        "hgnc": "HGNC:4274",
        "name": "gap junction protein alpha 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gja1"
      },
      {
        "slug": "gjb3",
        "symbol": "GJB3",
        "hgnc": "HGNC:4285",
        "name": "gap junction protein beta 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjb3"
      },
      {
        "slug": "gjb4",
        "symbol": "GJB4",
        "hgnc": "HGNC:4286",
        "name": "gap junction protein beta 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjb4"
      },
      {
        "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": "kdsr",
        "symbol": "KDSR",
        "hgnc": "HGNC:4021",
        "name": "3-ketodihydrosphingosine reductase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdsr"
      },
      {
        "slug": "ncf1",
        "symbol": "NCF1",
        "hgnc": "HGNC:7660",
        "name": "neutrophil cytosolic factor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncf1"
      },
      {
        "slug": "ncf2",
        "symbol": "NCF2",
        "hgnc": "HGNC:7661",
        "name": "neutrophil cytosolic factor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncf2"
      },
      {
        "slug": "ncf4",
        "symbol": "NCF4",
        "hgnc": "HGNC:7662",
        "name": "neutrophil cytosolic factor 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncf4"
      },
      {
        "slug": "nhp2",
        "symbol": "NHP2",
        "hgnc": "HGNC:14377",
        "name": "NHP2 ribonucleoprotein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nhp2"
      },
      {
        "slug": "nop10",
        "symbol": "NOP10",
        "hgnc": "HGNC:14378",
        "name": "NOP10 ribonucleoprotein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nop10"
      },
      {
        "slug": "npm1",
        "symbol": "NPM1",
        "hgnc": "HGNC:7910",
        "name": "nucleophosmin 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/npm1"
      },
      {
        "slug": "parn",
        "symbol": "PARN",
        "hgnc": "HGNC:8609",
        "name": "poly(A)-specific ribonuclease",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/parn"
      },
      {
        "slug": "rtel1",
        "symbol": "RTEL1",
        "hgnc": "HGNC:15888",
        "name": "regulator of telomere elongation helicase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rtel1"
      },
      {
        "slug": "terc",
        "symbol": "TERC",
        "hgnc": "HGNC:11727",
        "name": "telomerase RNA component",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/terc"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "hgnc": "HGNC:11730",
        "name": "telomerase reverse transcriptase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tert"
      },
      {
        "slug": "tinf2",
        "symbol": "TINF2",
        "hgnc": "HGNC:11824",
        "name": "TERF1 interacting nuclear factor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tinf2"
      },
      {
        "slug": "tyms",
        "symbol": "TYMS",
        "hgnc": "HGNC:12441",
        "name": "thymidylate synthetase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tyms"
      },
      {
        "slug": "usb1",
        "symbol": "USB1",
        "hgnc": "HGNC:25792",
        "name": "U6 snRNA biogenesis phosphodiesterase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/usb1"
      },
      {
        "slug": "wrap53",
        "symbol": "WRAP53",
        "hgnc": "HGNC:25522",
        "name": "WD repeat containing antisense to TP53",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wrap53"
      },
      {
        "slug": "ddb2",
        "symbol": "DDB2",
        "hgnc": "HGNC:2718",
        "name": "damage specific DNA binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddb2"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "hgnc": "HGNC:3434",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc2"
      },
      {
        "slug": "ercc3",
        "symbol": "ERCC3",
        "hgnc": "HGNC:3435",
        "name": "ERCC excision repair 3, TFIIH core complex helicase subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc3"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "ercc5",
        "symbol": "ERCC5",
        "hgnc": "HGNC:3437",
        "name": "ERCC excision repair 5, endonuclease",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc5"
      },
      {
        "slug": "kit",
        "symbol": "KIT",
        "hgnc": "HGNC:6342",
        "name": "KIT proto-oncogene, receptor tyrosine kinase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kit"
      },
      {
        "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": 3,
        "url": "https://dantelabs.com/genes/krt5"
      },
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "slug": "plec",
        "symbol": "PLEC",
        "hgnc": "HGNC:9069",
        "name": "plectin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plec"
      },
      {
        "slug": "smarcad1",
        "symbol": "SMARCAD1",
        "hgnc": "HGNC:18398",
        "name": "SNF2 related chromatin remodeling ATPase with DExD box 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarcad1"
      },
      {
        "slug": "xpc",
        "symbol": "XPC",
        "hgnc": "HGNC:12816",
        "name": "XPC complex subunit, DNA damage recognition and repair factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xpc"
      },
      {
        "slug": "ercc1",
        "symbol": "ERCC1",
        "hgnc": "HGNC:3433",
        "name": "ERCC excision repair 1, endonuclease non-catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc1"
      },
      {
        "slug": "ercc8",
        "symbol": "ERCC8",
        "hgnc": "HGNC:3439",
        "name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ercc8"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "gnas",
        "symbol": "GNAS",
        "hgnc": "HGNC:4392",
        "name": "GNAS complex locus",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnas"
      },
      {
        "slug": "kdm6b",
        "symbol": "KDM6B",
        "hgnc": "HGNC:29012",
        "name": "lysine demethylase 6B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm6b"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "nf1",
        "symbol": "NF1",
        "hgnc": "HGNC:7765",
        "name": "neurofibromin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nf1"
      },
      {
        "slug": "pofut1",
        "symbol": "POFUT1",
        "hgnc": "HGNC:14988",
        "name": "protein O-fucosyltransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pofut1"
      },
      {
        "slug": "poglut1",
        "symbol": "POGLUT1",
        "hgnc": "HGNC:22954",
        "name": "protein O-glucosyltransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/poglut1"
      },
      {
        "slug": "psenen",
        "symbol": "PSENEN",
        "hgnc": "HGNC:30100",
        "name": "presenilin enhancer, gamma-secretase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psenen"
      },
      {
        "slug": "tnfrsf1a",
        "symbol": "TNFRSF1A",
        "hgnc": "HGNC:11916",
        "name": "TNF receptor superfamily member 1A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnfrsf1a"
      },
      {
        "slug": "tp53rk",
        "symbol": "TP53RK",
        "hgnc": "HGNC:16197",
        "name": "TP53 regulating kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tp53rk"
      },
      {
        "slug": "zmpste24",
        "symbol": "ZMPSTE24",
        "hgnc": "HGNC:12877",
        "name": "zinc metallopeptidase STE24",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zmpste24"
      },
      {
        "slug": "acp5",
        "symbol": "ACP5",
        "hgnc": "HGNC:124",
        "name": "acid phosphatase 5, tartrate resistant",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acp5"
      },
      {
        "slug": "bptf",
        "symbol": "BPTF",
        "hgnc": "HGNC:3581",
        "name": "bromodomain PHD finger transcription factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bptf"
      },
      {
        "slug": "gpnmb",
        "symbol": "GPNMB",
        "hgnc": "HGNC:4462",
        "name": "glycoprotein nmb",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpnmb"
      },
      {
        "slug": "il6",
        "symbol": "IL6",
        "hgnc": "HGNC:6018",
        "name": "interleukin 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il6"
      },
      {
        "slug": "insr",
        "symbol": "INSR",
        "hgnc": "HGNC:6091",
        "name": "insulin receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/insr"
      },
      {
        "slug": "mmp2",
        "symbol": "MMP2",
        "hgnc": "HGNC:7166",
        "name": "matrix metallopeptidase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp2"
      },
      {
        "slug": "st3gal5",
        "symbol": "ST3GAL5",
        "hgnc": "HGNC:10872",
        "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 5",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/st3gal5"
      }
    ]
  }
}