{
  "url": "https://dantelabs.com/it/genes/aprt",
  "gene": {
    "slug": "aprt",
    "symbol": "APRT",
    "name": "adenine phosphoribosyltransferase",
    "hgnc": "HGNC:626",
    "summary": null,
    "location": "16q24.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000198931",
    "entrezId": 353,
    "omim": [
      "102600"
    ],
    "uniprot": [
      "P07741"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 88809339,
      "end": 88811928,
      "strand": "-",
      "ensemblTranscript": "ENST00000378364.8",
      "refseqTranscript": "NM_000485.3",
      "ensemblProtein": "ENSP00000367615.3",
      "refseqProtein": "NP_000476.1",
      "exons": [
        {
          "start": 88809339,
          "end": 88809840
        },
        {
          "start": 88810070,
          "end": 88810148
        },
        {
          "start": 88810423,
          "end": 88810556
        },
        {
          "start": 88811550,
          "end": 88811656
        },
        {
          "start": 88811820,
          "end": 88811928
        }
      ],
      "cds": {
        "start": 88809698,
        "end": 88811899
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 88875747,
      "end": 88878352,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 88310634,
      "end": 89310633,
      "genes": [
        {
          "symbol": "ZNF469",
          "ensemblId": "ENSG00000225614",
          "biotype": "protein_coding",
          "start": 88382959,
          "end": 88440757,
          "strand": "+",
          "slug": "znf469"
        },
        {
          "symbol": "ZFPM1",
          "ensemblId": "ENSG00000179588",
          "biotype": "protein_coding",
          "start": 88453208,
          "end": 88537031,
          "strand": "+",
          "slug": "zfpm1"
        },
        {
          "symbol": "ZC3H18",
          "ensemblId": "ENSG00000158545",
          "biotype": "protein_coding",
          "start": 88570388,
          "end": 88631966,
          "strand": "+",
          "slug": "zc3h18"
        },
        {
          "symbol": "IL17C",
          "ensemblId": "ENSG00000124391",
          "biotype": "protein_coding",
          "start": 88638571,
          "end": 88640468,
          "strand": "+",
          "slug": "il17c"
        },
        {
          "symbol": "CYBA",
          "ensemblId": "ENSG00000051523",
          "biotype": "protein_coding",
          "start": 88643275,
          "end": 88651083,
          "strand": "-",
          "slug": "cyba"
        },
        {
          "symbol": "MVD",
          "ensemblId": "ENSG00000167508",
          "biotype": "protein_coding",
          "start": 88651934,
          "end": 88663166,
          "strand": "-",
          "slug": "mvd"
        },
        {
          "symbol": "SNAI3",
          "ensemblId": "ENSG00000185669",
          "biotype": "protein_coding",
          "start": 88674992,
          "end": 88686513,
          "strand": "-",
          "slug": "snai3"
        },
        {
          "symbol": "RNF166",
          "ensemblId": "ENSG00000158717",
          "biotype": "protein_coding",
          "start": 88696494,
          "end": 88706424,
          "strand": "-",
          "slug": "rnf166"
        },
        {
          "symbol": "CTU2",
          "ensemblId": "ENSG00000174177",
          "biotype": "protein_coding",
          "start": 88706470,
          "end": 88717853,
          "strand": "+",
          "slug": "ctu2"
        },
        {
          "symbol": "PIEZO1",
          "ensemblId": "ENSG00000103335",
          "biotype": "protein_coding",
          "start": 88715338,
          "end": 88785251,
          "strand": "-",
          "slug": "piezo1"
        },
        {
          "symbol": "CDT1",
          "ensemblId": "ENSG00000167513",
          "biotype": "protein_coding",
          "start": 88803777,
          "end": 88809258,
          "strand": "+",
          "slug": "cdt1"
        },
        {
          "symbol": "GALNS",
          "ensemblId": "ENSG00000141012",
          "biotype": "protein_coding",
          "start": 88813733,
          "end": 88857832,
          "strand": "-",
          "slug": "galns"
        },
        {
          "symbol": "TRAPPC2L",
          "ensemblId": "ENSG00000167515",
          "biotype": "protein_coding",
          "start": 88856220,
          "end": 88862686,
          "strand": "+",
          "slug": "trappc2l"
        },
        {
          "symbol": "PABPN1L",
          "ensemblId": "ENSG00000205022",
          "biotype": "protein_coding",
          "start": 88863333,
          "end": 88866660,
          "strand": "-",
          "slug": "pabpn1l"
        },
        {
          "symbol": "CBFA2T3",
          "ensemblId": "ENSG00000129993",
          "biotype": "protein_coding",
          "start": 88874858,
          "end": 88977207,
          "strand": "-",
          "slug": "cbfa2t3"
        },
        {
          "symbol": "ACSF3",
          "ensemblId": "ENSG00000176715",
          "biotype": "protein_coding",
          "start": 89088375,
          "end": 89164121,
          "strand": "+",
          "slug": "acsf3"
        },
        {
          "symbol": "CDH15",
          "ensemblId": "ENSG00000129910",
          "biotype": "protein_coding",
          "start": 89171742,
          "end": 89195492,
          "strand": "+",
          "slug": "cdh15"
        },
        {
          "symbol": "SLC22A31",
          "ensemblId": "ENSG00000259803",
          "biotype": "protein_coding",
          "start": 89195458,
          "end": 89201692,
          "strand": "-",
          "slug": "slc22a31"
        },
        {
          "symbol": "ZNF778",
          "ensemblId": "ENSG00000170100",
          "biotype": "protein_coding",
          "start": 89217683,
          "end": 89237141,
          "strand": "+",
          "slug": "znf778"
        },
        {
          "symbol": "ANKRD11",
          "ensemblId": "ENSG00000167522",
          "biotype": "protein_coding",
          "start": 89267619,
          "end": 89490706,
          "strand": "-",
          "slug": "ankrd11"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "purine-and-pyrimidine-metabolism-disorders",
        "name": "Disturbi del metabolismo delle purine e delle pirimidine",
        "diseases": [
          {
            "mondoId": "MONDO:0013869",
            "name": "Deficit di adenina fosforibosiltransferasi",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Causato da varianti in APRT, che porta a calcoli renali da 2,8-diidrossiadenina e a danno renale da cristalli, spesso non diagnosticato o diagnosticato erroneamente.",
            "management": "Conoscere questa condizione consente di trattare con allopurinolo o febuxostat e di assumere un'elevata quantità di liquidi, il che può prevenire l'insufficienza renale.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/purine-and-pyrimidine-metabolism-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "2-8-dihydroxyadenine-crystalluria",
        "name": "2,8-dihydroxyadenine crystalluria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/2-8-dihydroxyadenine-crystalluria"
      },
      {
        "slug": "abdominal-colic",
        "name": "Abdominal colic",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-colic"
      },
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-circulating-enzyme-concentration-or-activity",
        "name": "Abnormal circulating enzyme concentration or activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity"
      },
      {
        "slug": "acute-kidney-injury",
        "name": "Acute kidney injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acute-kidney-injury"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "macroscopic-hematuria",
        "name": "Bloody urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macroscopic-hematuria"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "urinary-hesitancy",
        "name": "Difficulty with flow",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-hesitancy"
      },
      {
        "slug": "dysuria",
        "name": "Dull burning sensation with urination",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysuria"
      },
      {
        "slug": "elevated-circulating-creatinine-concentration",
        "name": "Elevated creatinine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration"
      },
      {
        "slug": "elevated-urinary-2-8-dihydroxyadenine-level",
        "name": "Elevated urinary 2,8-dihydroxyadenine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-urinary-2-8-dihydroxyadenine-level"
      },
      {
        "slug": "flank-pain",
        "name": "Flank pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flank-pain"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "oliguria",
        "name": "Oliguria",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oliguria"
      },
      {
        "slug": "atrial-fibrillation",
        "name": "Quivering upper heart chambers resulting in irregular heartbeat",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-fibrillation"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "uric-acid-nephrolithiasis",
        "name": "Uric acid stones",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/uric-acid-nephrolithiasis"
      },
      {
        "slug": "urinary-retention",
        "name": "Urinary retention",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-retention"
      },
      {
        "slug": "urolithiasis",
        "name": "Urolithiasis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/urolithiasis"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}