{
  "url": "https://dantelabs.com/traits/mitochondrial-swelling",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "mitochondrial-swelling",
    "id": "HP:0030774",
    "name": "Mitochondrial swelling",
    "definition": "The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormal-cellular-phenotype",
        "name": "Abnormal cellular phenotype",
        "url": "https://dantelabs.com/traits/abnormal-cellular-phenotype"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-mitochondrial-shape",
        "name": "Abnormal mitochondrial shape",
        "url": "https://dantelabs.com/traits/abnormal-mitochondrial-shape"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "fh",
        "symbol": "FH",
        "hgnc": "HGNC:3700",
        "name": "fumarate hydratase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fh"
      },
      {
        "slug": "tmem126b",
        "symbol": "TMEM126B",
        "hgnc": "HGNC:30883",
        "name": "transmembrane protein 126B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem126b"
      },
      {
        "slug": "lyrm4",
        "symbol": "LYRM4",
        "hgnc": "HGNC:21365",
        "name": "LYR motif containing 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lyrm4"
      },
      {
        "slug": "myh14",
        "symbol": "MYH14",
        "hgnc": "HGNC:23212",
        "name": "myosin heavy chain 14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh14"
      }
    ]
  }
}