{
  "url": "https://dantelabs.com/traits/acrocyanosis",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "acrocyanosis",
    "id": "HP:0001063",
    "name": "Persistent blue color of hands or feet",
    "label": "Acrocyanosis",
    "definition": "Bluish discoloration of the skin of the hands or feet.",
    "synonyms": [
      "Persistent blue colour of hands or feet"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "peripheral-cyanosis",
        "name": "Peripheral cyanosis",
        "url": "https://dantelabs.com/traits/peripheral-cyanosis"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "ethe1",
        "symbol": "ETHE1",
        "hgnc": "HGNC:23287",
        "name": "ETHE1 persulfide dioxygenase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ethe1"
      },
      {
        "slug": "abca3",
        "symbol": "ABCA3",
        "hgnc": "HGNC:33",
        "name": "ATP binding cassette subfamily A member 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abca3"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "hgnc": "HGNC:13552",
        "name": "ATPase phospholipid transporting 11A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp11a"
      },
      {
        "slug": "coq4",
        "symbol": "COQ4",
        "hgnc": "HGNC:19693",
        "name": "coenzyme Q4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coq4"
      },
      {
        "slug": "dpp9",
        "symbol": "DPP9",
        "hgnc": "HGNC:18648",
        "name": "dipeptidyl peptidase 9",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpp9"
      },
      {
        "slug": "dsp",
        "symbol": "DSP",
        "hgnc": "HGNC:3052",
        "name": "desmoplakin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dsp"
      },
      {
        "slug": "fam13a",
        "symbol": "FAM13A",
        "hgnc": "HGNC:19367",
        "name": "family with sequence similarity 13 member A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fam13a"
      },
      {
        "slug": "fxn",
        "symbol": "FXN",
        "hgnc": "HGNC:3951",
        "name": "frataxin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fxn"
      },
      {
        "slug": "muc5b",
        "symbol": "MUC5B",
        "hgnc": "HGNC:7516",
        "name": "mucin 5B, oligomeric mucus/gel-forming",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/muc5b"
      },
      {
        "slug": "parn",
        "symbol": "PARN",
        "hgnc": "HGNC:8609",
        "name": "poly(A)-specific ribonuclease",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/parn"
      },
      {
        "slug": "rtel1",
        "symbol": "RTEL1",
        "hgnc": "HGNC:15888",
        "name": "regulator of telomere elongation helicase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rtel1"
      },
      {
        "slug": "sftpa1",
        "symbol": "SFTPA1",
        "hgnc": "HGNC:10798",
        "name": "surfactant protein A1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sftpa1"
      },
      {
        "slug": "sftpa2",
        "symbol": "SFTPA2",
        "hgnc": "HGNC:10799",
        "name": "surfactant protein A2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sftpa2"
      },
      {
        "slug": "sftpc",
        "symbol": "SFTPC",
        "hgnc": "HGNC:10802",
        "name": "surfactant protein C",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sftpc"
      },
      {
        "slug": "stn1",
        "symbol": "STN1",
        "hgnc": "HGNC:26200",
        "name": "STN1 subunit of CST complex",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stn1"
      },
      {
        "slug": "tcf4",
        "symbol": "TCF4",
        "hgnc": "HGNC:11634",
        "name": "transcription factor 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tcf4"
      },
      {
        "slug": "terc",
        "symbol": "TERC",
        "hgnc": "HGNC:11727",
        "name": "telomerase RNA component",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/terc"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "hgnc": "HGNC:11730",
        "name": "telomerase reverse transcriptase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tert"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "hgnc": "HGNC:225",
        "name": "adenosine deaminase RNA specific",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adar"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "hgnc": "HGNC:2197",
        "name": "collagen type I alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col1a1"
      },
      {
        "slug": "col5a1",
        "symbol": "COL5A1",
        "hgnc": "HGNC:2209",
        "name": "collagen type V alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col5a1"
      },
      {
        "slug": "col5a2",
        "symbol": "COL5A2",
        "hgnc": "HGNC:2210",
        "name": "collagen type V alpha 2 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col5a2"
      },
      {
        "slug": "elp1",
        "symbol": "ELP1",
        "hgnc": "HGNC:5959",
        "name": "elongator acetyltransferase complex subunit 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/elp1"
      },
      {
        "slug": "fuca1",
        "symbol": "FUCA1",
        "hgnc": "HGNC:4006",
        "name": "alpha-L-fucosidase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fuca1"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "hgnc": "HGNC:18873",
        "name": "interferon induced with helicase C domain 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifih1"
      },
      {
        "slug": "lsm11",
        "symbol": "LSM11",
        "hgnc": "HGNC:30860",
        "name": "LSM11, U7 small nuclear RNA associated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lsm11"
      },
      {
        "slug": "mvk",
        "symbol": "MVK",
        "hgnc": "HGNC:7530",
        "name": "mevalonate kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mvk"
      },
      {
        "slug": "pax3",
        "symbol": "PAX3",
        "hgnc": "HGNC:8617",
        "name": "paired box 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax3"
      },
      {
        "slug": "rnaseh2a",
        "symbol": "RNASEH2A",
        "hgnc": "HGNC:18518",
        "name": "ribonuclease H2 subunit A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2a"
      },
      {
        "slug": "rnaseh2b",
        "symbol": "RNASEH2B",
        "hgnc": "HGNC:25671",
        "name": "ribonuclease H2 subunit B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2b"
      },
      {
        "slug": "rnaseh2c",
        "symbol": "RNASEH2C",
        "hgnc": "HGNC:24116",
        "name": "ribonuclease H2 subunit C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2c"
      },
      {
        "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": "samhd1",
        "symbol": "SAMHD1",
        "hgnc": "HGNC:15925",
        "name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/samhd1"
      },
      {
        "slug": "septin9",
        "symbol": "SEPTIN9",
        "hgnc": "HGNC:7323",
        "name": "septin 9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/septin9"
      },
      {
        "slug": "trex1",
        "symbol": "TREX1",
        "hgnc": "HGNC:12269",
        "name": "three prime repair exonuclease 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/trex1"
      },
      {
        "slug": "agxt",
        "symbol": "AGXT",
        "hgnc": "HGNC:341",
        "name": "alanine--glyoxylate aminotransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/agxt"
      },
      {
        "slug": "rps6ka3",
        "symbol": "RPS6KA3",
        "hgnc": "HGNC:10432",
        "name": "ribosomal protein S6 kinase A3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps6ka3"
      }
    ]
  }
}