{
  "url": "https://dantelabs.com/traits/poikiloderma",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "poikiloderma",
    "id": "HP:0001029",
    "name": "Poikiloderma",
    "definition": "Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-skin-morphology",
        "name": "Abnormal skin structure",
        "url": "https://dantelabs.com/traits/abnormal-skin-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "anapc1",
        "symbol": "ANAPC1",
        "hgnc": "HGNC:19988",
        "name": "anaphase promoting complex subunit 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/anapc1"
      },
      {
        "slug": "dna2",
        "symbol": "DNA2",
        "hgnc": "HGNC:2939",
        "name": "DNA replication helicase/nuclease 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dna2"
      },
      {
        "slug": "fam111b",
        "symbol": "FAM111B",
        "hgnc": "HGNC:24200",
        "name": "FAM111 trypsin like peptidase B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fam111b"
      },
      {
        "slug": "fermt1",
        "symbol": "FERMT1",
        "hgnc": "HGNC:15889",
        "name": "FERM domain containing kindlin 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fermt1"
      },
      {
        "slug": "iars2",
        "symbol": "IARS2",
        "hgnc": "HGNC:29685",
        "name": "isoleucyl-tRNA synthetase 2, mitochondrial",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iars2"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "ltv1",
        "symbol": "LTV1",
        "hgnc": "HGNC:21173",
        "name": "LTV1 ribosome biogenesis factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ltv1"
      },
      {
        "slug": "recql4",
        "symbol": "RECQL4",
        "hgnc": "HGNC:9949",
        "name": "RecQ like helicase 4",
        "frequency": "obligate",
        "diseases": 5,
        "url": "https://dantelabs.com/genes/recql4"
      },
      {
        "slug": "usb1",
        "symbol": "USB1",
        "hgnc": "HGNC:25792",
        "name": "U6 snRNA biogenesis phosphodiesterase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/usb1"
      },
      {
        "slug": "ddb2",
        "symbol": "DDB2",
        "hgnc": "HGNC:2718",
        "name": "damage specific DNA binding protein 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ddb2"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "hgnc": "HGNC:3434",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/ercc2"
      },
      {
        "slug": "ercc3",
        "symbol": "ERCC3",
        "hgnc": "HGNC:3435",
        "name": "ERCC excision repair 3, TFIIH core complex helicase subunit",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ercc3"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "ercc5",
        "symbol": "ERCC5",
        "hgnc": "HGNC:3437",
        "name": "ERCC excision repair 5, endonuclease",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ercc5"
      },
      {
        "slug": "polh",
        "symbol": "POLH",
        "hgnc": "HGNC:9181",
        "name": "DNA polymerase eta",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/polh"
      },
      {
        "slug": "xpa",
        "symbol": "XPA",
        "hgnc": "HGNC:12814",
        "name": "XPA, DNA damage recognition and repair factor",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/xpa"
      },
      {
        "slug": "xpc",
        "symbol": "XPC",
        "hgnc": "HGNC:12816",
        "name": "XPC complex subunit, DNA damage recognition and repair factor",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/xpc"
      },
      {
        "slug": "cd28",
        "symbol": "CD28",
        "hgnc": "HGNC:1653",
        "name": "CD28 molecule",
        "frequency": "frequent",
        "diseases": 1,
        "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": 1,
        "url": "https://dantelabs.com/genes/ctla4"
      },
      {
        "slug": "tnfrsf1b",
        "symbol": "TNFRSF1B",
        "hgnc": "HGNC:11917",
        "name": "TNF receptor superfamily member 1B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnfrsf1b"
      },
      {
        "slug": "blm",
        "symbol": "BLM",
        "hgnc": "HGNC:1058",
        "name": "BLM RecQ like helicase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/blm"
      },
      {
        "slug": "mtx2",
        "symbol": "MTX2",
        "hgnc": "HGNC:7506",
        "name": "metaxin 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtx2"
      },
      {
        "slug": "rnu7-1",
        "symbol": "RNU7-1",
        "hgnc": "HGNC:34033",
        "name": "RNA, U7 small nuclear 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu7-1"
      },
      {
        "slug": "ercc6",
        "symbol": "ERCC6",
        "hgnc": "HGNC:3438",
        "name": "ERCC excision repair 6, chromatin remodeling factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc6"
      }
    ]
  }
}