{
  "url": "https://dantelabs.com/pt/genes/hprt1",
  "gene": {
    "slug": "hprt1",
    "symbol": "HPRT1",
    "name": "hypoxanthine phosphoribosyltransferase 1",
    "hgnc": "HGNC:5157",
    "summary": null,
    "location": "Xq26.2-q26.3",
    "locusType": "gene with protein product",
    "aliases": [
      "HGPRT"
    ],
    "previousSymbols": [
      "HPRT"
    ],
    "ensemblId": "ENSG00000165704",
    "entrezId": 3251,
    "omim": [
      "308000"
    ],
    "uniprot": [
      "P00492"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 134460165,
      "end": 134500668,
      "strand": "+",
      "ensemblTranscript": "ENST00000298556.8",
      "refseqTranscript": "NM_000194.3",
      "ensemblProtein": "ENSP00000298556.7",
      "refseqProtein": "NP_000185.1",
      "exons": [
        {
          "start": 134460165,
          "end": 134460338
        },
        {
          "start": 134473359,
          "end": 134473465
        },
        {
          "start": 134475181,
          "end": 134475364
        },
        {
          "start": 134486465,
          "end": 134486530
        },
        {
          "start": 134490188,
          "end": 134490205
        },
        {
          "start": 134493508,
          "end": 134493590
        },
        {
          "start": 134498390,
          "end": 134498436
        },
        {
          "start": 134498608,
          "end": 134498684
        },
        {
          "start": 134500030,
          "end": 134500668
        }
      ],
      "cds": {
        "start": 134460312,
        "end": 134500077
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 133594183,
      "end": 133654543,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 133980417,
      "end": 134980416,
      "genes": [
        {
          "symbol": "GPC3",
          "ensemblId": "ENSG00000147257",
          "biotype": "protein_coding",
          "start": 133535745,
          "end": 133987100,
          "strand": "-",
          "slug": "gpc3"
        },
        {
          "symbol": "CCDC160",
          "ensemblId": "ENSG00000203952",
          "biotype": "protein_coding",
          "start": 134237047,
          "end": 134247585,
          "strand": "+",
          "slug": "ccdc160"
        },
        {
          "symbol": "PHF6",
          "ensemblId": "ENSG00000156531",
          "biotype": "protein_coding",
          "start": 134373284,
          "end": 134428792,
          "strand": "+",
          "slug": "phf6"
        },
        {
          "symbol": "PLAC1",
          "ensemblId": "ENSG00000170965",
          "biotype": "protein_coding",
          "start": 134565835,
          "end": 134764355,
          "strand": "-",
          "slug": "plac1"
        },
        {
          "symbol": "PABIR2",
          "ensemblId": "ENSG00000156504",
          "biotype": "protein_coding",
          "start": 134769513,
          "end": 134797259,
          "strand": "-",
          "slug": "pabir2"
        },
        {
          "symbol": "PABIR3",
          "ensemblId": "ENSG00000156500",
          "biotype": "protein_coding",
          "start": 134796381,
          "end": 134855021,
          "strand": "+",
          "slug": "pabir3"
        },
        {
          "symbol": "MOSPD1",
          "ensemblId": "ENSG00000101928",
          "biotype": "protein_coding",
          "start": 134887613,
          "end": 134915470,
          "strand": "-",
          "slug": "mospd1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "purine-and-pyrimidine-metabolism-disorders",
        "name": "Perturbações do Metabolismo das Purinas e Pirimidinas",
        "diseases": [
          {
            "mondoId": "MONDO:0016088",
            "name": "Deficiência de Hipoxantina-Guanina Fosforribosiltransferase",
            "genes": 1,
            "inheritance": "x-linked-recessive",
            "description": "Causada por variantes em HPRT1; a deficiência completa causa a síndrome de Lesch-Nyhan, enquanto a deficiência parcial causa níveis elevados de ácido úrico, gota e cálculos renais.",
            "management": "Conhecer esta informação permite usar alopurinol para controlar o ácido úrico e prevenir cálculos renais e lesões nos rins.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/purine-and-pyrimidine-metabolism-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-extrapyramidal-motor-function",
        "name": "Abnormality of extrapyramidal motor function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      },
      {
        "slug": "acute-kidney-injury",
        "name": "Acute kidney injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-kidney-injury"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "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": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dysuria",
        "name": "Dull burning sensation with urination",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysuria"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-circulating-creatinine-concentration",
        "name": "Elevated creatinine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gout",
        "name": "Gout",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gout"
      },
      {
        "slug": "hyperuricemia",
        "name": "High blood uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperuricemia"
      },
      {
        "slug": "hyperuricosuria",
        "name": "High urine uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperuricosuria"
      },
      {
        "slug": "hip-dislocation",
        "name": "Hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-dislocation"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "megaloblastic-anemia",
        "name": "Megaloblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/megaloblastic-anemia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "opisthotonus",
        "name": "Opisthotonus",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/opisthotonus"
      },
      {
        "slug": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "slug": "podagra",
        "name": "Podagra",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/podagra"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "self-injurious-behavior",
        "name": "Self-injurious behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/self-injurious-behavior"
      },
      {
        "slug": "self-mutilation",
        "name": "Self-mutilation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/self-mutilation"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "testicular-atrophy",
        "name": "Testicular degeneration",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/testicular-atrophy"
      },
      {
        "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": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}