{
  "url": "https://dantelabs.com/fr/genes/etfdh",
  "gene": {
    "slug": "etfdh",
    "symbol": "ETFDH",
    "name": "electron transfer flavoprotein dehydrogenase",
    "hgnc": "HGNC:3483",
    "summary": null,
    "location": "4q32.1",
    "locusType": "gene with protein product",
    "aliases": [
      "ETFQO"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000171503",
    "entrezId": 2110,
    "omim": [
      "231675"
    ],
    "uniprot": [
      "Q16134"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 158672296,
      "end": 158709623,
      "strand": "+",
      "ensemblTranscript": "ENST00000511912.6",
      "refseqTranscript": "NM_004453.4",
      "ensemblProtein": "ENSP00000426638.1",
      "refseqProtein": "NP_004444.2",
      "exons": [
        {
          "start": 158672296,
          "end": 158672490
        },
        {
          "start": 158680467,
          "end": 158680607
        },
        {
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          "end": 158682424
        },
        {
          "start": 158684592,
          "end": 158684673
        },
        {
          "start": 158685101,
          "end": 158685219
        },
        {
          "start": 158690348,
          "end": 158690425
        },
        {
          "start": 158695497,
          "end": 158695643
        },
        {
          "start": 158697559,
          "end": 158697699
        },
        {
          "start": 158698987,
          "end": 158699130
        },
        {
          "start": 158703423,
          "end": 158703591
        },
        {
          "start": 158706189,
          "end": 158706371
        },
        {
          "start": 158706629,
          "end": 158706850
        },
        {
          "start": 158708364,
          "end": 158709623
        }
      ],
      "cds": {
        "start": 158672457,
        "end": 158708527
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 159593277,
      "end": 159630775,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 158190960,
      "end": 159190959,
      "genes": [
        {
          "symbol": "TMEM144",
          "ensemblId": "ENSG00000164124",
          "biotype": "protein_coding",
          "start": 158201604,
          "end": 158255416,
          "strand": "+",
          "slug": "tmem144"
        },
        {
          "symbol": "RXFP1",
          "ensemblId": "ENSG00000171509",
          "biotype": "protein_coding",
          "start": 158315311,
          "end": 158653372,
          "strand": "+",
          "slug": "rxfp1"
        },
        {
          "symbol": "C4orf46",
          "ensemblId": "ENSG00000205208",
          "biotype": "protein_coding",
          "start": 158666675,
          "end": 158672255,
          "strand": "-",
          "slug": "c4orf46"
        },
        {
          "symbol": "PPID",
          "ensemblId": "ENSG00000171497",
          "biotype": "protein_coding",
          "start": 158708161,
          "end": 158723418,
          "strand": "-",
          "slug": "ppid"
        },
        {
          "symbol": "FNIP2",
          "ensemblId": "ENSG00000052795",
          "biotype": "protein_coding",
          "start": 158768963,
          "end": 158908050,
          "strand": "+",
          "slug": "fnip2"
        },
        {
          "symbol": "SPMIP2",
          "ensemblId": "ENSG00000164123",
          "biotype": "protein_coding",
          "start": 158893134,
          "end": 159038760,
          "strand": "-",
          "slug": "spmip2"
        },
        {
          "symbol": "RAPGEF2",
          "ensemblId": "ENSG00000109756",
          "biotype": "protein_coding",
          "start": 159103013,
          "end": 159360175,
          "strand": "+",
          "slug": "rapgef2"
        }
      ],
      "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": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/fatty-acid-oxidation-and-carnitine-cycle-disorders"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Cardiomyopathie hypertrophique",
        "diseases": [
          {
            "mondoId": "MONDO:0005045",
            "name": "Cardiomyopathie hypertrophique",
            "genes": 62,
            "inheritance": "autosomal-dominant",
            "description": "Une affection dans laquelle le myocarde est hypertrophié sans cause évidente. L'hypertrophie est généralement asymétrique et peut être associée à une obstruction de la chambre de chasse ventriculaire.",
            "management": "Bêtabloquants, inhibiteurs calciques non-dihydropyridiniques, restriction d'activité physique, conseil génétique",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/hypertrophic-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormality-of-the-genital-system",
        "name": "Abnormality of the reproductive system",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-the-genital-system"
      },
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "acidosis",
        "name": "Acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/acidosis"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "hypoglycemic-coma",
        "name": "Coma caused by low blood sugar",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoglycemic-coma"
      },
      {
        "slug": "telecanthus",
        "name": "Corners of eye widely separated",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/telecanthus"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "electron-transfer-flavoprotein-ubiquinone-oxidoreductase-defect",
        "name": "Electron transfer flavoprotein-ubiquinone oxidoreductase defect",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/electron-transfer-flavoprotein-ubiquinone-oxidoreductase-defect"
      },
      {
        "slug": "elevated-circulating-glutaric-acid-concentration",
        "name": "Elevated circulating glutaric acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-glutaric-acid-concentration"
      },
      {
        "slug": "elevated-urinary-5-hydroxyhexanoic-acid-level",
        "name": "Elevated urinary 5-hydroxyhexanoic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-urinary-5-hydroxyhexanoic-acid-level"
      },
      {
        "slug": "elevated-urine-3-methyladipic-acid-level",
        "name": "Elevated urine 3-methyladipic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-urine-3-methyladipic-acid-level"
      },
      {
        "slug": "elevated-urine-suberic-acid-level",
        "name": "Elevated urine suberic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urine-suberic-acid-level"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "ethylmalonic-aciduria",
        "name": "Ethylmalonic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/ethylmalonic-aciduria"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "generalized-aminoaciduria",
        "name": "Generalized aminoaciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-aminoaciduria"
      },
      {
        "slug": "gliosis",
        "name": "Gliosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gliosis"
      },
      {
        "slug": "glycosuria",
        "name": "Glucose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/glycosuria"
      },
      {
        "slug": "glutaric-aciduria",
        "name": "Glutaric aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/glutaric-aciduria"
      },
      {
        "slug": "hepatic-periportal-necrosis",
        "name": "Hepatic periportal necrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatic-periportal-necrosis"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "intermittent-diarrhea",
        "name": "Intermittent diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intermittent-diarrhea"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "methylmalonic-aciduria",
        "name": "Methylmalonic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/methylmalonic-aciduria"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "pancreatitis",
        "name": "Pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatitis"
      },
      {
        "slug": "polycystic-kidney-dysplasia",
        "name": "Polycystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polycystic-kidney-dysplasia"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "proximal-tubulopathy",
        "name": "Proximal tubulopathy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/proximal-tubulopathy"
      },
      {
        "slug": "renal-cortical-cysts",
        "name": "Renal cortical cysts",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-cortical-cysts"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "wide-anterior-fontanel",
        "name": "Wider-than-typical soft spot of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/wide-anterior-fontanel"
      }
    ],
    "related": [
      {
        "slug": "acadvl",
        "symbol": "ACADVL",
        "name": "acyl-CoA dehydrogenase very long chain",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/acadvl"
      },
      {
        "slug": "etfa",
        "symbol": "ETFA",
        "name": "electron transfer flavoprotein subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/etfa"
      },
      {
        "slug": "etfb",
        "symbol": "ETFB",
        "name": "electron transfer flavoprotein subunit beta",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/etfb"
      },
      {
        "slug": "hadha",
        "symbol": "HADHA",
        "name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/hadha"
      },
      {
        "slug": "acad9",
        "symbol": "ACAD9",
        "name": "acyl-CoA dehydrogenase family member 9",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/acad9"
      },
      {
        "slug": "acadm",
        "symbol": "ACADM",
        "name": "acyl-CoA dehydrogenase medium chain",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/acadm"
      },
      {
        "slug": "acads",
        "symbol": "ACADS",
        "name": "acyl-CoA dehydrogenase short chain",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/acads"
      },
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "name": "actin alpha cardiac muscle 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/actc1"
      },
      {
        "slug": "alpk3",
        "symbol": "ALPK3",
        "name": "alpha kinase 3",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/alpk3"
      },
      {
        "slug": "braf",
        "symbol": "BRAF",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/braf"
      },
      {
        "slug": "cdkn1c",
        "symbol": "CDKN1C",
        "name": "cyclin dependent kinase inhibitor 1C",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cdkn1c"
      },
      {
        "slug": "csrp3",
        "symbol": "CSRP3",
        "name": "cysteine and glycine rich protein 3",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/csrp3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}