{
  "url": "https://dantelabs.com/traits/hyperprolinemia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "hyperprolinemia",
    "id": "HP:0008358",
    "name": "Hyperprolinemia",
    "definition": "The concentration of proline in the blood circulation is above the upper limit of normal.",
    "synonyms": [
      "Elevated proline concentration",
      "Elevated proline level",
      "Elevated proline level in blood",
      "Increased proline concentration",
      "Increased proline level",
      "Increased proline level in blood",
      "Prolinemia"
    ],
    "systems": [
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-circulating-proline-concentration",
        "name": "Abnormal circulating proline concentration",
        "url": "https://dantelabs.com/traits/abnormal-circulating-proline-concentration"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "hgnc": "HGNC:823",
        "name": "ATP synthase F1 subunit alpha",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp5f1a"
      },
      {
        "slug": "ca5a",
        "symbol": "CA5A",
        "hgnc": "HGNC:1377",
        "name": "carbonic anhydrase 5A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ca5a"
      },
      {
        "slug": "cox16",
        "symbol": "COX16",
        "hgnc": "HGNC:20213",
        "name": "cytochrome c oxidase assembly factor COX16",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox16"
      },
      {
        "slug": "lipt1",
        "symbol": "LIPT1",
        "hgnc": "HGNC:29569",
        "name": "lipoyltransferase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lipt1"
      },
      {
        "slug": "ndufb10",
        "symbol": "NDUFB10",
        "hgnc": "HGNC:7696",
        "name": "NADH:ubiquinone oxidoreductase subunit B10",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufb10"
      },
      {
        "slug": "prodh",
        "symbol": "PRODH",
        "hgnc": "HGNC:9453",
        "name": "proline dehydrogenase 1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/prodh"
      },
      {
        "slug": "tars2",
        "symbol": "TARS2",
        "hgnc": "HGNC:30740",
        "name": "threonyl-tRNA synthetase 2, mitochondrial",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tars2"
      },
      {
        "slug": "tefm",
        "symbol": "TEFM",
        "hgnc": "HGNC:26223",
        "name": "transcription elongation factor, mitochondrial",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tefm"
      },
      {
        "slug": "aldh4a1",
        "symbol": "ALDH4A1",
        "hgnc": "HGNC:406",
        "name": "aldehyde dehydrogenase 4 family member A1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/aldh4a1"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "hgnc": "HGNC:2260",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox10"
      },
      {
        "slug": "cox5a",
        "symbol": "COX5A",
        "hgnc": "HGNC:2267",
        "name": "cytochrome c oxidase subunit 5A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox5a"
      },
      {
        "slug": "ndufc2",
        "symbol": "NDUFC2",
        "hgnc": "HGNC:7706",
        "name": "NADH:ubiquinone oxidoreductase subunit C2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufc2"
      },
      {
        "slug": "pdp1",
        "symbol": "PDP1",
        "hgnc": "HGNC:9279",
        "name": "pyruvate dehydrogenase phosphatase catalytic subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdp1"
      },
      {
        "slug": "slc7a7",
        "symbol": "SLC7A7",
        "hgnc": "HGNC:11065",
        "name": "solute carrier family 7 member 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc7a7"
      },
      {
        "slug": "slc36a2",
        "symbol": "SLC36A2",
        "hgnc": "HGNC:18762",
        "name": "solute carrier family 36 member 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc36a2"
      },
      {
        "slug": "slc6a18",
        "symbol": "SLC6A18",
        "hgnc": "HGNC:26441",
        "name": "solute carrier family 6 member 18",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc6a18"
      },
      {
        "slug": "slc6a19",
        "symbol": "SLC6A19",
        "hgnc": "HGNC:27960",
        "name": "solute carrier family 6 member 19",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc6a19"
      },
      {
        "slug": "slc6a20",
        "symbol": "SLC6A20",
        "hgnc": "HGNC:30927",
        "name": "solute carrier family 6 member 20",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc6a20"
      }
    ]
  }
}