{
  "url": "https://dantelabs.com/sv/genes/acad9",
  "gene": {
    "slug": "acad9",
    "symbol": "ACAD9",
    "name": "acyl-CoA dehydrogenase family member 9",
    "hgnc": "HGNC:21497",
    "summary": null,
    "location": "3q21.3",
    "locusType": "gene with protein product",
    "aliases": [
      "NPD002",
      "MGC14452"
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    "previousSymbols": [],
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    "entrezId": 28976,
    "omim": [
      "611103"
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    "uniprot": [
      "Q9H845"
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      "release": "v1.5",
      "chrom": "3",
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      "end": 128913114,
      "strand": "+",
      "ensemblTranscript": "ENST00000308982.12",
      "refseqTranscript": "NM_014049.5",
      "ensemblProtein": "ENSP00000312618.7",
      "refseqProtein": "NP_054768.2",
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      "cds": {
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        "end": 128912607
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 128598439,
      "end": 128634910,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 128396367,
      "end": 129396366,
      "genes": [
        {
          "symbol": "EEFSEC",
          "ensemblId": "ENSG00000132394",
          "biotype": "protein_coding",
          "start": 128153174,
          "end": 128427044,
          "strand": "+",
          "slug": "eefsec"
        },
        {
          "symbol": "DNAJB8",
          "ensemblId": "ENSG00000179407",
          "biotype": "protein_coding",
          "start": 128462437,
          "end": 128466968,
          "strand": "-",
          "slug": "dnajb8"
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        {
          "symbol": "GATA2",
          "ensemblId": "ENSG00000179348",
          "biotype": "protein_coding",
          "start": 128479423,
          "end": 128493208,
          "strand": "-",
          "slug": "gata2"
        },
        {
          "symbol": "RPN1",
          "ensemblId": "ENSG00000163902",
          "biotype": "protein_coding",
          "start": 128619968,
          "end": 128681075,
          "strand": "-",
          "slug": "rpn1"
        },
        {
          "symbol": "RAB7A",
          "ensemblId": "ENSG00000075785",
          "biotype": "protein_coding",
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          "end": 128825980,
          "strand": "+",
          "slug": "rab7a"
        },
        {
          "symbol": "CFAP92",
          "ensemblId": "ENSG00000114656",
          "biotype": "protein_coding",
          "start": 128909866,
          "end": 129002690,
          "strand": "-",
          "slug": "cfap92"
        },
        {
          "symbol": "EFCC1",
          "ensemblId": "ENSG00000114654",
          "biotype": "protein_coding",
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          "end": 129040742,
          "strand": "+",
          "slug": "efcc1"
        },
        {
          "symbol": "GP9",
          "ensemblId": "ENSG00000169704",
          "biotype": "protein_coding",
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          "end": 129062435,
          "strand": "+",
          "slug": "gp9"
        },
        {
          "symbol": "RAB43",
          "ensemblId": "ENSG00000172780",
          "biotype": "protein_coding",
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          "end": 129123694,
          "strand": "-",
          "slug": "rab43"
        },
        {
          "symbol": "ISY1-RAB43",
          "ensemblId": "ENSG00000261796",
          "biotype": "protein_coding",
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          "end": 129161036,
          "strand": "-",
          "slug": "isy1-rab43"
        },
        {
          "symbol": "ISY1",
          "ensemblId": "ENSG00000240682",
          "biotype": "protein_coding",
          "start": 129127415,
          "end": 129161349,
          "strand": "-",
          "slug": "isy1"
        },
        {
          "symbol": "CNBP",
          "ensemblId": "ENSG00000169714",
          "biotype": "protein_coding",
          "start": 129167291,
          "end": 129184008,
          "strand": "-",
          "slug": "cnbp"
        },
        {
          "symbol": "COPG1",
          "ensemblId": "ENSG00000181789",
          "biotype": "protein_coding",
          "start": 129249575,
          "end": 129278068,
          "strand": "+",
          "slug": "copg1"
        },
        {
          "symbol": "HMCES",
          "ensemblId": "ENSG00000183624",
          "biotype": "protein_coding",
          "start": 129278441,
          "end": 129306283,
          "strand": "+",
          "slug": "hmces"
        },
        {
          "symbol": "H1-10",
          "ensemblId": "ENSG00000184897",
          "biotype": "protein_coding",
          "start": 129314771,
          "end": 129316286,
          "strand": "-",
          "slug": "h1-10"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "fatty-acid-oxidation-and-carnitine-cycle-disorders",
        "name": "Störningar i fettsyraoxidation och karnitincykeln",
        "diseases": [
          {
            "mondoId": "MONDO:0017713",
            "name": "Störningar i fettsyraoxidation och ketogenes",
            "genes": 13,
            "inheritance": "autosomal-recessive",
            "description": "En grupp defekter i enzymer och transportörer, bland annat brist på MCAD, VLCAD, LCHAD, SCAD och HADH, primär karnitinbrist och brist på karnitin-acylkarnitintranslokas, som under perioder av fasta eller sjukdom kan orsaka lågt blodsocker, muskelnedbrytning samt problem med hjärta och lever.",
            "management": "Om du känner till tillståndet kan du undvika långvarig fasta, ha en nödplan för sjukdom och, när det är relevant, justera karnitintillskott eller fettintaget i kosten, vilket kan förebygga livshotande episoder.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/fatty-acid-oxidation-and-carnitine-cycle-disorders"
      },
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primär mitokondriell sjukdom",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Brist på mitokondriella andningskedjekomplex",
            "genes": 61,
            "inheritance": null,
            "description": "Isolerad brist på komplex I, II, III, IV eller V, orsakad av varianter i kärngener eller mitokondriella gener. Den kan påverka hjärnan, musklerna, hjärtat, levern och andra organ med högt energibehov.",
            "management": "Kunskapen kan avsluta en diagnostisk sökning och vägleda uppföljning av drabbade organ och undvikande av läkemedel som är toxiska för mitokondrierna.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "acute-hepatic-failure",
        "name": "Acute liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-hepatic-failure"
      },
      {
        "slug": "cerebral-edema",
        "name": "Brain swelling",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-edema"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "decreased-circulating-carnitine-concentration",
        "name": "Carnitine deficiency",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-carnitine-concentration"
      },
      {
        "slug": "cerebellar-hemorrhage",
        "name": "Cerebellar hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-hemorrhage"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-i",
        "name": "Decreased activity of mitochondrial complex I",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i"
      },
      {
        "slug": "elevated-circulating-fatty-acylcarnitine-concentration",
        "name": "Elevated circulating fatty acylcarnitine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-fatty-acylcarnitine-concentration"
      },
      {
        "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": "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": "emg-myopathic-abnormalities",
        "name": "EMG: myopathic abnormalities",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "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": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "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"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "increased-circulating-lactate-dehydrogenase-concentration",
        "name": "Increased circulating lactate dehydrogenase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-dehydrogenase-concentration"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "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": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "microvesicular-hepatic-steatosis",
        "name": "Microvesicular hepatic steatosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/microvesicular-hepatic-steatosis"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "nonketotic-hypoglycemia",
        "name": "Nonketotic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nonketotic-hypoglycemia"
      },
      {
        "slug": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "sudden-cardiac-death",
        "name": "Sudden cardiac death",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sudden-cardiac-death"
      }
    ],
    "related": [
      {
        "slug": "acadm",
        "symbol": "ACADM",
        "name": "acyl-CoA dehydrogenase medium chain",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/acadm"
      },
      {
        "slug": "acads",
        "symbol": "ACADS",
        "name": "acyl-CoA dehydrogenase short chain",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/acads"
      },
      {
        "slug": "acadvl",
        "symbol": "ACADVL",
        "name": "acyl-CoA dehydrogenase very long chain",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/acadvl"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp5f1e"
      },
      {
        "slug": "bcs1l",
        "symbol": "BCS1L",
        "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/bcs1l"
      },
      {
        "slug": "coa6",
        "symbol": "COA6",
        "name": "cytochrome c oxidase assembly factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/coa6"
      },
      {
        "slug": "coa8",
        "symbol": "COA8",
        "name": "cytochrome c oxidase assembly factor 8",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/coa8"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cox10"
      },
      {
        "slug": "cox15",
        "symbol": "COX15",
        "name": "cytochrome c oxidase assembly factor COX15",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cox15"
      },
      {
        "slug": "cox16",
        "symbol": "COX16",
        "name": "cytochrome c oxidase assembly factor COX16",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cox16"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}