{
  "url": "https://dantelabs.com/de/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": "Seltene erbliche megaloblastäre Anämien",
        "diseases": [
          {
            "mondoId": "MONDO:0009797",
            "name": "Erbliche Orotazidurie",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Eine rezessive Erkrankung, die durch Veränderungen im UMPS-Gen verursacht wird. Eine Blockade bei der Bildung von Pyrimidinen führt zu einer megaloblastären Anämie, die weder auf Vitamin B12 noch auf Folat anspricht. Im Urin finden sich Orotsäurekristalle, und manchmal kommt es zu einer Entwicklungsverzögerung.",
            "management": "Uridintriacetat ersetzt die fehlenden Pyrimidine und korrigiert die Anämie.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/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": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}