{
  "url": "https://dantelabs.com/fr/genes/acadm",
  "gene": {
    "slug": "acadm",
    "symbol": "ACADM",
    "name": "acyl-CoA dehydrogenase medium chain",
    "hgnc": "HGNC:89",
    "summary": null,
    "location": "1p31.1",
    "locusType": "gene with protein product",
    "aliases": [
      "MCAD",
      "MCADH",
      "ACAD1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000117054",
    "entrezId": 34,
    "omim": [
      "607008"
    ],
    "uniprot": [
      "P11310"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 75724709,
      "end": 75763679,
      "strand": "+",
      "ensemblTranscript": "ENST00000370841.9",
      "refseqTranscript": "NM_000016.6",
      "ensemblProtein": "ENSP00000359878.5",
      "refseqProtein": "NP_000007.1",
      "exons": [
        {
          "start": 75724709,
          "end": 75724817
        },
        {
          "start": 75728401,
          "end": 75728488
        },
        {
          "start": 75732644,
          "end": 75732741
        },
        {
          "start": 75732853,
          "end": 75732922
        },
        {
          "start": 75733528,
          "end": 75733628
        },
        {
          "start": 75734791,
          "end": 75734871
        },
        {
          "start": 75739980,
          "end": 75740110
        },
        {
          "start": 75745806,
          "end": 75745914
        },
        {
          "start": 75749419,
          "end": 75749559
        },
        {
          "start": 75750451,
          "end": 75750546
        },
        {
          "start": 75761122,
          "end": 75761370
        },
        {
          "start": 75762692,
          "end": 75763679
        }
      ],
      "cds": {
        "start": 75724788,
        "end": 75762763
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 76190036,
      "end": 76253260,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 75244194,
      "end": 76244193,
      "genes": [
        {
          "symbol": "SLC44A5",
          "ensemblId": "ENSG00000137968",
          "biotype": "protein_coding",
          "start": 75202129,
          "end": 75611114,
          "strand": "-",
          "slug": "slc44a5"
        },
        {
          "symbol": "RABGGTB",
          "ensemblId": "ENSG00000137955",
          "biotype": "protein_coding",
          "start": 75786171,
          "end": 75795337,
          "strand": "+",
          "slug": "rabggtb"
        },
        {
          "symbol": "MSH4",
          "ensemblId": "ENSG00000057468",
          "biotype": "protein_coding",
          "start": 75796882,
          "end": 75913242,
          "strand": "+",
          "slug": "msh4"
        },
        {
          "symbol": "ASB17",
          "ensemblId": "ENSG00000154007",
          "biotype": "protein_coding",
          "start": 75918873,
          "end": 75932409,
          "strand": "-",
          "slug": "asb17"
        },
        {
          "symbol": "ST6GALNAC3",
          "ensemblId": "ENSG00000184005",
          "biotype": "protein_coding",
          "start": 76074702,
          "end": 76634603,
          "strand": "+",
          "slug": "st6galnac3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "fatty-acid-oxidation-and-carnitine-cycle-disorders",
        "name": "Troubles de l'oxydation des acides gras et du cycle de la carnitine",
        "diseases": [
          {
            "mondoId": "MONDO:0017713",
            "name": "Troubles de l'oxydation des acides gras et de la cétogenèse",
            "genes": 13,
            "inheritance": "autosomal-recessive",
            "description": "Groupe de défauts d'enzymes et de transporteurs, notamment les déficits en MCAD, VLCAD, LCHAD, SCAD et HADH, le déficit primaire en carnitine et le déficit en translocase carnitine-acylcarnitine, pouvant provoquer une hypoglycémie, une destruction musculaire ainsi que des atteintes cardiaques et hépatiques pendant les périodes de jeûne ou de maladie.",
            "management": "La connaissance de cette maladie permet d'éviter les jeûnes prolongés, de disposer d'un plan d'urgence en cas de maladie et, le cas échéant, d'ajuster l'apport en carnitine ou en graisses alimentaires, ce qui peut prévenir des épisodes mettant la vie en danger.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 11
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/fatty-acid-oxidation-and-carnitine-cycle-disorders"
      }
    ],
    "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": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "cerebral-edema",
        "name": "Brain swelling",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-edema"
      },
      {
        "slug": "decreased-circulating-carnitine-concentration",
        "name": "Carnitine deficiency",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-carnitine-concentration"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "decreased-liver-function",
        "name": "Decreased liver function",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-liver-function"
      },
      {
        "slug": "decreased-plasma-total-carnitine",
        "name": "Decreased plasma total carnitine",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-plasma-total-carnitine"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "distal-arthrogryposis",
        "name": "Distal arthrogryposis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/distal-arthrogryposis"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-urinary-3-hydroxybutyric-acid",
        "name": "Elevated urinary 3-hydroxybutyric acid",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-urinary-3-hydroxybutyric-acid"
      },
      {
        "slug": "elevated-urinary-7-hydroxyoctanoic-acid-level",
        "name": "Elevated urinary 7-hydroxyoctanoic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urinary-7-hydroxyoctanoic-acid-level"
      },
      {
        "slug": "elevated-urinary-dicarboxylic-acid-level",
        "name": "Elevated urinary dicarboxylic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-dicarboxylic-acid-level"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "exercise-induced-myalgia",
        "name": "Exercise-induced muscle pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-induced-myalgia"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "fatigable-weakness",
        "name": "Fatigable weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigable-weakness"
      },
      {
        "slug": "fatigable-weakness-of-neck-muscles",
        "name": "Fatigable weakness of neck muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigable-weakness-of-neck-muscles"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years",
        "name": "Febrile seizure (within the age range of 3 months to 6 years)",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "ketosis",
        "name": "High levels of ketone bodies",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ketosis"
      },
      {
        "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": "hyperglycinuria",
        "name": "High urine glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hyperglycinuria"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "loss-of-consciousness",
        "name": "Loss of consciousness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-consciousness"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "medium-chain-dicarboxylic-aciduria",
        "name": "Medium chain dicarboxylic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/medium-chain-dicarboxylic-aciduria"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "reduced-tissue-medium-chain-acyl-coa-dehydrogenase-activity",
        "name": "Reduced tissue medium-chain acyl-CoA dehydrogenase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-tissue-medium-chain-acyl-coa-dehydrogenase-activity"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "cachexia",
        "name": "Wasting syndrome",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cachexia"
      }
    ],
    "related": [
      {
        "slug": "acad9",
        "symbol": "ACAD9",
        "name": "acyl-CoA dehydrogenase family member 9",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/acad9"
      },
      {
        "slug": "acads",
        "symbol": "ACADS",
        "name": "acyl-CoA dehydrogenase short chain",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/acads"
      },
      {
        "slug": "acadvl",
        "symbol": "ACADVL",
        "name": "acyl-CoA dehydrogenase very long chain",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/acadvl"
      },
      {
        "slug": "etfa",
        "symbol": "ETFA",
        "name": "electron transfer flavoprotein subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/etfa"
      },
      {
        "slug": "etfb",
        "symbol": "ETFB",
        "name": "electron transfer flavoprotein subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/etfb"
      },
      {
        "slug": "etfdh",
        "symbol": "ETFDH",
        "name": "electron transfer flavoprotein dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/etfdh"
      },
      {
        "slug": "hadh",
        "symbol": "HADH",
        "name": "hydroxyacyl-CoA dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/hadh"
      },
      {
        "slug": "hadha",
        "symbol": "HADHA",
        "name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/hadha"
      },
      {
        "slug": "hmgcl",
        "symbol": "HMGCL",
        "name": "3-hydroxy-3-methylglutaryl-CoA lyase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/hmgcl"
      },
      {
        "slug": "hmgcs2",
        "symbol": "HMGCS2",
        "name": "3-hydroxy-3-methylglutaryl-CoA synthase 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/hmgcs2"
      },
      {
        "slug": "slc22a5",
        "symbol": "SLC22A5",
        "name": "solute carrier family 22 member 5",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/slc22a5"
      },
      {
        "slug": "slc25a20",
        "symbol": "SLC25A20",
        "name": "solute carrier family 25 member 20",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/slc25a20"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}