{
  "url": "https://dantelabs.com/traits/hyperphenylalaninemia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "hyperphenylalaninemia",
    "id": "HP:0004923",
    "name": "Hyperphenylalaninemia",
    "definition": "The concentration of L-phenylalanine in the blood circulation is above the upper limit of normal.",
    "synonyms": [
      "Elevated phenylalanine concentration",
      "Elevated phenylalanine level",
      "Elevated phenylalanine level in blood",
      "Increased phenylalanine concentration",
      "Increased phenylalanine level",
      "Increased phenylalanine level in blood"
    ],
    "systems": [
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-circulating-phenylalanine-concentration",
        "name": "Abnormal circulating phenylalanine concentration",
        "url": "https://dantelabs.com/traits/abnormal-circulating-phenylalanine-concentration"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "gch1",
        "symbol": "GCH1",
        "hgnc": "HGNC:4193",
        "name": "GTP cyclohydrolase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gch1"
      },
      {
        "slug": "pts",
        "symbol": "PTS",
        "hgnc": "HGNC:9689",
        "name": "6-pyruvoyltetrahydropterin synthase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pts"
      },
      {
        "slug": "pcbd1",
        "symbol": "PCBD1",
        "hgnc": "HGNC:8646",
        "name": "pterin-4 alpha-carbinolamine dehydratase 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pcbd1"
      },
      {
        "slug": "pah",
        "symbol": "PAH",
        "hgnc": "HGNC:8582",
        "name": "phenylalanine hydroxylase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pah"
      },
      {
        "slug": "qdpr",
        "symbol": "QDPR",
        "hgnc": "HGNC:9752",
        "name": "quinoid dihydropteridine reductase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/qdpr"
      }
    ]
  }
}