{
  "url": "https://dantelabs.com/no/genes/umps",
  "gene": {
    "slug": "umps",
    "symbol": "UMPS",
    "name": "uridine monophosphate synthetase",
    "hgnc": "HGNC:12563",
    "summary": null,
    "location": "3q21.2",
    "locusType": "gene with protein product",
    "aliases": [
      "OPRT",
      "ODC"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000114491",
    "entrezId": 7372,
    "omim": [
      "613891"
    ],
    "uniprot": [
      "P11172"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 124730452,
      "end": 124749273,
      "strand": "+",
      "ensemblTranscript": "ENST00000232607.7",
      "refseqTranscript": "NM_000373.4",
      "ensemblProtein": "ENSP00000232607.2",
      "refseqProtein": "NP_000364.1",
      "exons": [
        {
          "start": 124730452,
          "end": 124730627
        },
        {
          "start": 124735093,
          "end": 124735246
        },
        {
          "start": 124737568,
          "end": 124738239
        },
        {
          "start": 124740024,
          "end": 124740199
        },
        {
          "start": 124742152,
          "end": 124742266
        },
        {
          "start": 124743915,
          "end": 124749273
        }
      ],
      "cds": {
        "start": 124730472,
        "end": 124744084
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 124449213,
      "end": 124464040,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 124239863,
      "end": 125239862,
      "genes": [
        {
          "symbol": "KALRN",
          "ensemblId": "ENSG00000160145",
          "biotype": "protein_coding",
          "start": 124033310,
          "end": 124726325,
          "strand": "+",
          "slug": "kalrn"
        },
        {
          "symbol": "ITGB5",
          "ensemblId": "ENSG00000082781",
          "biotype": "protein_coding",
          "start": 124757793,
          "end": 124901418,
          "strand": "-",
          "slug": "itgb5"
        },
        {
          "symbol": "MUC13",
          "ensemblId": "ENSG00000173702",
          "biotype": "protein_coding",
          "start": 124905440,
          "end": 124953819,
          "strand": "-",
          "slug": "muc13"
        },
        {
          "symbol": "HEG1",
          "ensemblId": "ENSG00000173706",
          "biotype": "protein_coding",
          "start": 124965710,
          "end": 125056056,
          "strand": "-",
          "slug": "heg1"
        },
        {
          "symbol": "SLC12A8",
          "ensemblId": "ENSG00000221955",
          "biotype": "protein_coding",
          "start": 125082636,
          "end": 125213229,
          "strand": "-",
          "slug": "slc12a8"
        },
        {
          "symbol": "ZNF148",
          "ensemblId": "ENSG00000163848",
          "biotype": "protein_coding",
          "start": 125225669,
          "end": 125375842,
          "strand": "-",
          "slug": "znf148"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-inherited-megaloblastic-anaemias",
        "name": "Sjeldne arvelige megaloblastære anemier",
        "diseases": [
          {
            "mondoId": "MONDO:0009797",
            "name": "Arvelig orotacidurie",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "En recessiv tilstand forårsaket av endringer i UMPS, der en blokkering i produksjonen av pyrimidiner gir megaloblastisk anemi som ikke responderer på vitamin B12 eller folat, med orotsyrekrystaller i urinen og noen ganger forsinket utvikling.",
            "management": "Uridintriacetat erstatter de manglende pyrimidinene og retter opp anemien.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/rare-inherited-megaloblastic-anaemias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hip-dysplasia",
        "name": "Abnormal formation of the hip",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hip-dysplasia"
      },
      {
        "slug": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "abnormal-toenail-morphology",
        "name": "Abnormality of the toenail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-toenail-morphology"
      },
      {
        "slug": "abnormality-of-the-ureter",
        "name": "Abnormality of the ureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-ureter"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "folate-unresponsive-megaloblastic-anemia",
        "name": "Folate-unresponsive megaloblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/folate-unresponsive-megaloblastic-anemia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "oroticaciduria",
        "name": "High urine orotic acid levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/oroticaciduria"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "hypochromia",
        "name": "Hypochromia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/hypochromia"
      },
      {
        "slug": "abnormal-t-cell-physiology",
        "name": "Impaired T cell function",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-t-cell-physiology"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "orotic-acid-crystalluria",
        "name": "Orotic acid crystalluria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/orotic-acid-crystalluria"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "poikilocytosis",
        "name": "Poikilocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/poikilocytosis"
      },
      {
        "slug": "pyrimidine-responsive-megaloblastic-anemia",
        "name": "Pyrimidine-responsive megaloblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/pyrimidine-responsive-megaloblastic-anemia"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "reduced-orotidine-5-prime-phosphate-decarboxylase-level",
        "name": "Reduced orotidine 5-prime phosphate decarboxylase level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/reduced-orotidine-5-prime-phosphate-decarboxylase-level"
      },
      {
        "slug": "anisocytosis",
        "name": "Unequal size of red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/anisocytosis"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}