{
  "url": "https://dantelabs.com/traits/macrocytic-anemia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "macrocytic-anemia",
    "id": "HP:0001972",
    "name": "Macrocytic anemia",
    "definition": "A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).",
    "synonyms": [
      "Macrocytic anaemia"
    ],
    "systems": [
      {
        "slug": "abnormality-of-blood-and-blood-forming-tissues",
        "name": "Abnormality of blood and blood-forming tissues",
        "url": "https://dantelabs.com/traits/abnormality-of-blood-and-blood-forming-tissues"
      }
    ],
    "broader": [
      {
        "slug": "anemia-of-inadequate-production",
        "name": "Anemia of inadequate production",
        "url": "https://dantelabs.com/traits/anemia-of-inadequate-production"
      }
    ],
    "narrower": [
      {
        "slug": "macrocytic-dyserythropoietic-anemia",
        "name": "Macrocytic dyserythropoietic anemia",
        "genes": 28,
        "url": "https://dantelabs.com/traits/macrocytic-dyserythropoietic-anemia"
      },
      {
        "slug": "megaloblastic-anemia",
        "name": "Megaloblastic anemia",
        "genes": 18,
        "url": "https://dantelabs.com/traits/megaloblastic-anemia"
      },
      {
        "slug": "refractory-macrocytic-anemia",
        "name": "Refractory macrocytic anemia",
        "genes": 1,
        "url": "https://dantelabs.com/traits/refractory-macrocytic-anemia"
      }
    ],
    "genes": [
      {
        "slug": "gata1",
        "symbol": "GATA1",
        "hgnc": "HGNC:4170",
        "name": "GATA binding protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gata1"
      },
      {
        "slug": "itpr3",
        "symbol": "ITPR3",
        "hgnc": "HGNC:6182",
        "name": "inositol 1,4,5-trisphosphate receptor type 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itpr3"
      },
      {
        "slug": "psmc1",
        "symbol": "PSMC1",
        "hgnc": "HGNC:9547",
        "name": "proteasome 26S subunit, ATPase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psmc1"
      },
      {
        "slug": "rac2",
        "symbol": "RAC2",
        "hgnc": "HGNC:9802",
        "name": "Rac family small GTPase 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rac2"
      },
      {
        "slug": "racgap1",
        "symbol": "RACGAP1",
        "hgnc": "HGNC:9804",
        "name": "Rac GTPase activating protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/racgap1"
      },
      {
        "slug": "rpl15",
        "symbol": "RPL15",
        "hgnc": "HGNC:10306",
        "name": "ribosomal protein L15",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl15"
      },
      {
        "slug": "rps26",
        "symbol": "RPS26",
        "hgnc": "HGNC:10414",
        "name": "ribosomal protein S26",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps26"
      },
      {
        "slug": "rps28",
        "symbol": "RPS28",
        "hgnc": "HGNC:10418",
        "name": "ribosomal protein S28",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps28"
      },
      {
        "slug": "rps7",
        "symbol": "RPS7",
        "hgnc": "HGNC:10440",
        "name": "ribosomal protein S7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps7"
      },
      {
        "slug": "slc30a7",
        "symbol": "SLC30A7",
        "hgnc": "HGNC:19306",
        "name": "solute carrier family 30 member 7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc30a7"
      },
      {
        "slug": "tcn2",
        "symbol": "TCN2",
        "hgnc": "HGNC:11653",
        "name": "transcobalamin 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tcn2"
      },
      {
        "slug": "tinf2",
        "symbol": "TINF2",
        "hgnc": "HGNC:11824",
        "name": "TERF1 interacting nuclear factor 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tinf2"
      },
      {
        "slug": "tmem63b",
        "symbol": "TMEM63B",
        "hgnc": "HGNC:17735",
        "name": "transmembrane protein 63B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem63b"
      },
      {
        "slug": "amn",
        "symbol": "AMN",
        "hgnc": "HGNC:14604",
        "name": "amnion associated transmembrane protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/amn"
      },
      {
        "slug": "cubn",
        "symbol": "CUBN",
        "hgnc": "HGNC:2548",
        "name": "cubilin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cubn"
      },
      {
        "slug": "rps19",
        "symbol": "RPS19",
        "hgnc": "HGNC:10402",
        "name": "ribosomal protein S19",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps19"
      },
      {
        "slug": "uba1",
        "symbol": "UBA1",
        "hgnc": "HGNC:12469",
        "name": "ubiquitin like modifier activating enzyme 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/uba1"
      },
      {
        "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": "dnajc21",
        "symbol": "DNAJC21",
        "hgnc": "HGNC:27030",
        "name": "DnaJ heat shock protein family (Hsp40) member C21",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajc21"
      },
      {
        "slug": "efl1",
        "symbol": "EFL1",
        "hgnc": "HGNC:25789",
        "name": "elongation factor like GTPase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efl1"
      },
      {
        "slug": "kcnn4",
        "symbol": "KCNN4",
        "hgnc": "HGNC:6293",
        "name": "potassium calcium-activated channel subfamily N member 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnn4"
      },
      {
        "slug": "mtrr",
        "symbol": "MTRR",
        "hgnc": "HGNC:7473",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase reductase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtrr"
      },
      {
        "slug": "piezo1",
        "symbol": "PIEZO1",
        "hgnc": "HGNC:28993",
        "name": "piezo type mechanosensitive ion channel component 1 (Er blood group)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piezo1"
      },
      {
        "slug": "rpl17",
        "symbol": "RPL17",
        "hgnc": "HGNC:10307",
        "name": "ribosomal protein L17",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl17"
      },
      {
        "slug": "rps14",
        "symbol": "RPS14",
        "hgnc": "HGNC:10387",
        "name": "ribosomal protein S14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps14"
      },
      {
        "slug": "sbds",
        "symbol": "SBDS",
        "hgnc": "HGNC:19440",
        "name": "SBDS ribosome maturation factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sbds"
      },
      {
        "slug": "sfxn4",
        "symbol": "SFXN4",
        "hgnc": "HGNC:16088",
        "name": "sideroflexin 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sfxn4"
      },
      {
        "slug": "slc4a1",
        "symbol": "SLC4A1",
        "hgnc": "HGNC:11027",
        "name": "solute carrier family 4 member 1 (Diego blood group)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc4a1"
      },
      {
        "slug": "tet2",
        "symbol": "TET2",
        "hgnc": "HGNC:25941",
        "name": "tet methylcytosine dioxygenase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tet2"
      },
      {
        "slug": "tpi1",
        "symbol": "TPI1",
        "hgnc": "HGNC:12009",
        "name": "triosephosphate isomerase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpi1"
      },
      {
        "slug": "tsr2",
        "symbol": "TSR2",
        "hgnc": "HGNC:25455",
        "name": "TSR2 ribosome maturation factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsr2"
      },
      {
        "slug": "flvcr1",
        "symbol": "FLVCR1",
        "hgnc": "HGNC:24682",
        "name": "FLVCR choline and heme transporter 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flvcr1"
      },
      {
        "slug": "dnm1l",
        "symbol": "DNM1L",
        "hgnc": "HGNC:2973",
        "name": "dynamin 1L",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm1l"
      },
      {
        "slug": "opa1",
        "symbol": "OPA1",
        "hgnc": "HGNC:8140",
        "name": "OPA1 mitochondrial dynamin like GTPase",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/opa1"
      },
      {
        "slug": "ppib",
        "symbol": "PPIB",
        "hgnc": "HGNC:9255",
        "name": "peptidylprolyl isomerase B",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppib"
      },
      {
        "slug": "rhag",
        "symbol": "RHAG",
        "hgnc": "HGNC:10006",
        "name": "Rh associated glycoprotein",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rhag"
      },
      {
        "slug": "rhce",
        "symbol": "RHCE",
        "hgnc": "HGNC:10008",
        "name": "Rh blood group CcEe antigens",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rhce"
      },
      {
        "slug": "rhd",
        "symbol": "RHD",
        "hgnc": "HGNC:10009",
        "name": "Rh blood group D antigen",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rhd"
      },
      {
        "slug": "alas2",
        "symbol": "ALAS2",
        "hgnc": "HGNC:397",
        "name": "5'-aminolevulinate synthase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alas2"
      },
      {
        "slug": "hla-dqa1",
        "symbol": "HLA-DQA1",
        "hgnc": "HGNC:4942",
        "name": "major histocompatibility complex, class II, DQ alpha 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-dqa1"
      },
      {
        "slug": "hla-dqb1",
        "symbol": "HLA-DQB1",
        "hgnc": "HGNC:4944",
        "name": "major histocompatibility complex, class II, DQ beta 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-dqb1"
      },
      {
        "slug": "kif23",
        "symbol": "KIF23",
        "hgnc": "HGNC:6392",
        "name": "kinesin family member 23",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif23"
      },
      {
        "slug": "lars1",
        "symbol": "LARS1",
        "hgnc": "HGNC:6512",
        "name": "leucyl-tRNA synthetase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lars1"
      },
      {
        "slug": "mthfd1",
        "symbol": "MTHFD1",
        "hgnc": "HGNC:7432",
        "name": "methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mthfd1"
      },
      {
        "slug": "rmrp",
        "symbol": "RMRP",
        "hgnc": "HGNC:10031",
        "name": "RNA component of mitochondrial RNA processing endoribonuclease",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rmrp"
      },
      {
        "slug": "rpl11",
        "symbol": "RPL11",
        "hgnc": "HGNC:10301",
        "name": "ribosomal protein L11",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl11"
      },
      {
        "slug": "rpl35a",
        "symbol": "RPL35A",
        "hgnc": "HGNC:10345",
        "name": "ribosomal protein L35a",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl35a"
      },
      {
        "slug": "rpl5",
        "symbol": "RPL5",
        "hgnc": "HGNC:10360",
        "name": "ribosomal protein L5",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl5"
      },
      {
        "slug": "rps17",
        "symbol": "RPS17",
        "hgnc": "HGNC:10397",
        "name": "ribosomal protein S17",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps17"
      },
      {
        "slug": "rps24",
        "symbol": "RPS24",
        "hgnc": "HGNC:10411",
        "name": "ribosomal protein S24",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps24"
      }
    ]
  }
}