{
  "url": "https://dantelabs.com/hu/genes/ldha",
  "gene": {
    "slug": "ldha",
    "symbol": "LDHA",
    "name": "lactate dehydrogenase A",
    "hgnc": "HGNC:6535",
    "summary": null,
    "location": "11p15.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000134333",
    "entrezId": 3939,
    "omim": [
      "150000"
    ],
    "uniprot": [
      "P00338"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 18394563,
      "end": 18408425,
      "strand": "+",
      "ensemblTranscript": "ENST00000422447.8",
      "refseqTranscript": "NM_005566.4",
      "ensemblProtein": "ENSP00000395337.3",
      "refseqProtein": "NP_005557.1",
      "exons": [
        {
          "start": 18394563,
          "end": 18394636
        },
        {
          "start": 18396819,
          "end": 18396968
        },
        {
          "start": 18399431,
          "end": 18399548
        },
        {
          "start": 18400837,
          "end": 18401010
        },
        {
          "start": 18402840,
          "end": 18403013
        },
        {
          "start": 18403694,
          "end": 18403811
        },
        {
          "start": 18405449,
          "end": 18405572
        },
        {
          "start": 18407117,
          "end": 18408425
        }
      ],
      "cds": {
        "start": 18396843,
        "end": 18407281
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 18415935,
      "end": 18429972,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 17901494,
      "end": 18901493,
      "genes": [
        {
          "symbol": "SERGEF",
          "ensemblId": "ENSG00000129158",
          "biotype": "protein_coding",
          "start": 17788043,
          "end": 18013199,
          "strand": "-",
          "slug": "sergef"
        },
        {
          "symbol": "TPH1",
          "ensemblId": "ENSG00000129167",
          "biotype": "protein_coding",
          "start": 18017555,
          "end": 18046269,
          "strand": "-",
          "slug": "tph1"
        },
        {
          "symbol": "SAAL1",
          "ensemblId": "ENSG00000166788",
          "biotype": "protein_coding",
          "start": 18069935,
          "end": 18106108,
          "strand": "-",
          "slug": "saal1"
        },
        {
          "symbol": "MRGPRX3",
          "ensemblId": "ENSG00000179826",
          "biotype": "protein_coding",
          "start": 18120955,
          "end": 18138488,
          "strand": "+",
          "slug": "mrgprx3"
        },
        {
          "symbol": "MRGPRX4",
          "ensemblId": "ENSG00000179817",
          "biotype": "protein_coding",
          "start": 18172837,
          "end": 18174280,
          "strand": "+",
          "slug": "mrgprx4"
        },
        {
          "symbol": "SAA4",
          "ensemblId": "ENSG00000148965",
          "biotype": "protein_coding",
          "start": 18229731,
          "end": 18236860,
          "strand": "-",
          "slug": "saa4"
        },
        {
          "symbol": "SAA2-SAA4",
          "ensemblId": "ENSG00000255071",
          "biotype": "protein_coding",
          "start": 18231423,
          "end": 18248635,
          "strand": "-",
          "slug": "saa2-saa4"
        },
        {
          "symbol": "SAA2",
          "ensemblId": "ENSG00000134339",
          "biotype": "protein_coding",
          "start": 18238236,
          "end": 18248668,
          "strand": "-",
          "slug": "saa2"
        },
        {
          "symbol": "SAA1",
          "ensemblId": "ENSG00000173432",
          "biotype": "protein_coding",
          "start": 18266118,
          "end": 18271130,
          "strand": "+",
          "slug": "saa1"
        },
        {
          "symbol": "HPS5",
          "ensemblId": "ENSG00000110756",
          "biotype": "protein_coding",
          "start": 18278668,
          "end": 18322523,
          "strand": "-",
          "slug": "hps5"
        },
        {
          "symbol": "GTF2H1",
          "ensemblId": "ENSG00000110768",
          "biotype": "protein_coding",
          "start": 18322254,
          "end": 18367881,
          "strand": "+",
          "slug": "gtf2h1"
        },
        {
          "symbol": "LDHC",
          "ensemblId": "ENSG00000166796",
          "biotype": "protein_coding",
          "start": 18412286,
          "end": 18452069,
          "strand": "+",
          "slug": "ldhc"
        },
        {
          "symbol": "LDHAL6A",
          "ensemblId": "ENSG00000166800",
          "biotype": "protein_coding",
          "start": 18455823,
          "end": 18479601,
          "strand": "+",
          "slug": "ldhal6a"
        },
        {
          "symbol": "TSG101",
          "ensemblId": "ENSG00000074319",
          "biotype": "protein_coding",
          "start": 18468336,
          "end": 18526965,
          "strand": "-",
          "slug": "tsg101"
        },
        {
          "symbol": "UEVLD",
          "ensemblId": "ENSG00000151116",
          "biotype": "protein_coding",
          "start": 18529607,
          "end": 18588747,
          "strand": "-",
          "slug": "uevld"
        },
        {
          "symbol": "MISFA",
          "ensemblId": "ENSG00000247595",
          "biotype": "protein_coding",
          "start": 18588781,
          "end": 18610255,
          "strand": "+",
          "slug": "misfa"
        },
        {
          "symbol": "SPTY2D1",
          "ensemblId": "ENSG00000179119",
          "biotype": "protein_coding",
          "start": 18606399,
          "end": 18634791,
          "strand": "-",
          "slug": "spty2d1"
        },
        {
          "symbol": "TMEM86A",
          "ensemblId": "ENSG00000151117",
          "biotype": "protein_coding",
          "start": 18693122,
          "end": 18705736,
          "strand": "+",
          "slug": "tmem86a"
        },
        {
          "symbol": "IGSF22",
          "ensemblId": "ENSG00000179057",
          "biotype": "protein_coding",
          "start": 18704312,
          "end": 18726230,
          "strand": "-",
          "slug": "igsf22"
        },
        {
          "symbol": "PTPN5",
          "ensemblId": "ENSG00000110786",
          "biotype": "protein_coding",
          "start": 18727928,
          "end": 18792721,
          "strand": "-",
          "slug": "ptpn5"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "glycogen-storage-disease",
        "name": "Glycogen Storage Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0013047",
            "name": "Lactate Dehydrogenase A Deficiency",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Caused by variants in LDHA, which cause exercise-related muscle breakdown and sometimes skin rashes.",
            "management": "Knowing helps avoid triggers of muscle breakdown and supports fast treatment.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/glycogen-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-lactate-dehydrogenase-concentration",
        "name": "Abnormal circulating lactate dehydrogenase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-lactate-dehydrogenase-concentration"
      },
      {
        "slug": "abnormal-delivery",
        "name": "Abnormal delivery",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-delivery"
      },
      {
        "slug": "acute-kidney-injury",
        "name": "Acute kidney injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-kidney-injury"
      },
      {
        "slug": "annular-cutaneous-lesion",
        "name": "Annular cutaneous lesion",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/annular-cutaneous-lesion"
      },
      {
        "slug": "rhabdomyolysis",
        "name": "Breakdown of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/rhabdomyolysis"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-creatine-kinase-after-exercise",
        "name": "Elevated creatine kinase after exercise",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-creatine-kinase-after-exercise"
      },
      {
        "slug": "erythematous-plaque",
        "name": "Erythematous plaque",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erythematous-plaque"
      },
      {
        "slug": "exercise-induced-myalgia",
        "name": "Exercise-induced muscle pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-induced-myalgia"
      },
      {
        "slug": "exercise-induced-myoglobinuria",
        "name": "Exercise-induced myoglobinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-induced-myoglobinuria"
      },
      {
        "slug": "exercise-induced-rhabdomyolysis",
        "name": "Exercise-induced rhabdomyolysis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-induced-rhabdomyolysis"
      },
      {
        "slug": "heat-intolerance",
        "name": "Heat intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/heat-intolerance"
      },
      {
        "slug": "hypercalcemia",
        "name": "High blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypercalcemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "increased-circulating-pyruvate-concentration",
        "name": "Increased circulating pyruvate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration"
      },
      {
        "slug": "intermittent-generalized-erythematous-papular-rash",
        "name": "Intermittent generalized erythematous papular rash",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intermittent-generalized-erythematous-papular-rash"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "muscle-stiffness",
        "name": "Muscle stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-stiffness"
      },
      {
        "slug": "myoglobinuria",
        "name": "Myoglobinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/myoglobinuria"
      },
      {
        "slug": "parakeratosis",
        "name": "Parakeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/parakeratosis"
      },
      {
        "slug": "pustule",
        "name": "Pimple",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pustule"
      },
      {
        "slug": "predominantly-dermal-neutrophilic-infiltrate",
        "name": "Predominantly dermal neutrophilic infiltrate",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/predominantly-dermal-neutrophilic-infiltrate"
      },
      {
        "slug": "psoriasiform-lesion",
        "name": "Psoriasiform lesion",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/psoriasiform-lesion"
      },
      {
        "slug": "regional-abnormality-of-skin",
        "name": "Regional abnormality of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/regional-abnormality-of-skin"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "scaling-skin",
        "name": "Scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scaling-skin"
      },
      {
        "slug": "superficial-dermal-perivascular-inflammatory-infiltrate",
        "name": "Superficial dermal perivascular inflammatory infiltrate",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/superficial-dermal-perivascular-inflammatory-infiltrate"
      },
      {
        "slug": "easy-fatigability",
        "name": "Tired easily",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/easy-fatigability"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}