{
  "url": "https://dantelabs.com/traits/restrictive-cardiomyopathy",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "restrictive-cardiomyopathy",
    "id": "HP:0001723",
    "name": "Restrictive cardiomyopathy",
    "definition": "Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-cardiovascular-system",
        "name": "Abnormality of the cardiovascular system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-cardiovascular-system"
      }
    ],
    "broader": [
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "kif20a",
        "symbol": "KIF20A",
        "hgnc": "HGNC:9787",
        "name": "kinesin family member 20A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif20a"
      },
      {
        "slug": "mcm10",
        "symbol": "MCM10",
        "hgnc": "HGNC:18043",
        "name": "minichromosome maintenance 10 replication initiation factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mcm10"
      },
      {
        "slug": "tnnt2",
        "symbol": "TNNT2",
        "hgnc": "HGNC:11949",
        "name": "troponin T2, cardiac type",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnnt2"
      },
      {
        "slug": "bag3",
        "symbol": "BAG3",
        "hgnc": "HGNC:939",
        "name": "BAG cochaperone 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bag3"
      },
      {
        "slug": "cenpe",
        "symbol": "CENPE",
        "hgnc": "HGNC:1856",
        "name": "centromere protein E",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cenpe"
      },
      {
        "slug": "ttr",
        "symbol": "TTR",
        "hgnc": "HGNC:12405",
        "name": "transthyretin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ttr"
      },
      {
        "slug": "abcc6",
        "symbol": "ABCC6",
        "hgnc": "HGNC:57",
        "name": "ATP binding cassette subfamily C member 6",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/abcc6"
      },
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "hgnc": "HGNC:143",
        "name": "actin alpha cardiac muscle 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/actc1"
      },
      {
        "slug": "ank1",
        "symbol": "ANK1",
        "hgnc": "HGNC:492",
        "name": "ankyrin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ank1"
      },
      {
        "slug": "des",
        "symbol": "DES",
        "hgnc": "HGNC:2770",
        "name": "desmin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/des"
      },
      {
        "slug": "enpp1",
        "symbol": "ENPP1",
        "hgnc": "HGNC:3356",
        "name": "ectonucleotide pyrophosphatase/phosphodiesterase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/enpp1"
      },
      {
        "slug": "epb42",
        "symbol": "EPB42",
        "hgnc": "HGNC:3381",
        "name": "erythrocyte membrane protein band 4.2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/epb42"
      },
      {
        "slug": "myl2",
        "symbol": "MYL2",
        "hgnc": "HGNC:7583",
        "name": "myosin light chain 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myl2"
      },
      {
        "slug": "pigt",
        "symbol": "PIGT",
        "hgnc": "HGNC:14938",
        "name": "phosphatidylinositol glycan anchor biosynthesis class T",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pigt"
      },
      {
        "slug": "slc4a1",
        "symbol": "SLC4A1",
        "hgnc": "HGNC:11027",
        "name": "solute carrier family 4 member 1 (Diego blood group)",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc4a1"
      },
      {
        "slug": "spta1",
        "symbol": "SPTA1",
        "hgnc": "HGNC:11272",
        "name": "spectrin alpha, erythrocytic 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spta1"
      },
      {
        "slug": "sptb",
        "symbol": "SPTB",
        "hgnc": "HGNC:11274",
        "name": "spectrin beta, erythrocytic",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptb"
      },
      {
        "slug": "trim63",
        "symbol": "TRIM63",
        "hgnc": "HGNC:16007",
        "name": "tripartite motif containing 63",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trim63"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "xylt1",
        "symbol": "XYLT1",
        "hgnc": "HGNC:15516",
        "name": "xylosyltransferase 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xylt1"
      },
      {
        "slug": "xylt2",
        "symbol": "XYLT2",
        "hgnc": "HGNC:15517",
        "name": "xylosyltransferase 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xylt2"
      },
      {
        "slug": "myl3",
        "symbol": "MYL3",
        "hgnc": "HGNC:7584",
        "name": "myosin light chain 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myl3"
      },
      {
        "slug": "pdgfra",
        "symbol": "PDGFRA",
        "hgnc": "HGNC:8803",
        "name": "platelet derived growth factor receptor alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfra"
      },
      {
        "slug": "tnni3",
        "symbol": "TNNI3",
        "hgnc": "HGNC:11947",
        "name": "troponin I3, cardiac type",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnni3"
      }
    ]
  }
}