{
  "url": "https://dantelabs.com/el/genes/hadh",
  "gene": {
    "slug": "hadh",
    "symbol": "HADH",
    "name": "hydroxyacyl-CoA dehydrogenase",
    "hgnc": "HGNC:4799",
    "summary": null,
    "location": "4q25",
    "locusType": "gene with protein product",
    "aliases": [
      "HADH1",
      "SCHAD"
    ],
    "previousSymbols": [
      "HADHSC"
    ],
    "ensemblId": "ENSG00000138796",
    "entrezId": 3033,
    "omim": [
      "601609"
    ],
    "uniprot": [
      "Q16836"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 107989889,
      "end": 108035171,
      "strand": "+",
      "ensemblTranscript": "ENST00000309522.8",
      "refseqTranscript": "NM_005327.7",
      "ensemblProtein": "ENSP00000312288.4",
      "refseqProtein": "NP_005318.6",
      "exons": [
        {
          "start": 107989889,
          "end": 107990064
        },
        {
          "start": 108009759,
          "end": 108009887
        },
        {
          "start": 108014431,
          "end": 108014588
        },
        {
          "start": 108019540,
          "end": 108019666
        },
        {
          "start": 108023474,
          "end": 108023563
        },
        {
          "start": 108027688,
          "end": 108027760
        },
        {
          "start": 108033176,
          "end": 108033292
        },
        {
          "start": 108034239,
          "end": 108035171
        }
      ],
      "cds": {
        "start": 107989933,
        "end": 108034357
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 108910870,
      "end": 108956331,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 107512530,
      "end": 108512529,
      "genes": [
        {
          "symbol": "PAPSS1",
          "ensemblId": "ENSG00000138801",
          "biotype": "protein_coding",
          "start": 107590276,
          "end": 107720395,
          "strand": "-",
          "slug": "papss1"
        },
        {
          "symbol": "SGMS2",
          "ensemblId": "ENSG00000164023",
          "biotype": "protein_coding",
          "start": 107824563,
          "end": 107915047,
          "strand": "+",
          "slug": "sgms2"
        },
        {
          "symbol": "CYP2U1",
          "ensemblId": "ENSG00000155016",
          "biotype": "protein_coding",
          "start": 107931324,
          "end": 107953465,
          "strand": "+",
          "slug": "cyp2u1"
        },
        {
          "symbol": "LEF1",
          "ensemblId": "ENSG00000138795",
          "biotype": "protein_coding",
          "start": 108045592,
          "end": 108169198,
          "strand": "-",
          "slug": "lef1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "fatty-acid-oxidation-and-carnitine-cycle-disorders",
        "name": "Διαταραχές οξείδωσης λιπαρών οξέων και του κύκλου της καρνιτίνης",
        "diseases": [
          {
            "mondoId": "MONDO:0017713",
            "name": "Διαταραχές της οξείδωσης λιπαρών οξέων και της κετογένεσης",
            "genes": 13,
            "inheritance": "autosomal-recessive",
            "description": "Μια ομάδα ελαττωμάτων ενζύμων και μεταφορέων, μεταξύ των οποίων η έλλειψη MCAD, VLCAD, LCHAD, SCAD και HADH, η πρωτοπαθής έλλειψη καρνιτίνης και η έλλειψη μεταφορέα καρνιτινης-ακυλοκαρνιτίνης (translocase), που μπορεί να προκαλέσουν χαμηλά επίπεδα σακχάρου στο αίμα, διάσπαση μυϊκού ιστού, καρδιακά και ηπατικά προβλήματα κατά τις περιόδους νηστείας ή ασθένειας.",
            "management": "Η γνώση επιτρέπει την αποφυγή παρατεταμένης νηστείας, ένα σχέδιο έκτακτης ανάγκης για περιπτώσεις ασθένειας και, όπου είναι σχετικό, τροποποίηση της διατροφής με καρνιτίνη ή λιπαρά, κάτι που μπορεί να προλάβει επεισόδια που απειλούν τη ζωή.",
            "evidence": {
              "gencc": [
                "G2P",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/fatty-acid-oxidation-and-carnitine-cycle-disorders"
      },
      {
        "slug": "hyperinsulinism",
        "name": "Υπερινσουλινισμός",
        "diseases": [
          {
            "mondoId": "MONDO:0007834",
            "name": "Αδενωμάτωση των νησιδίων του Langerhans",
            "genes": 5,
            "inheritance": "autosomal-dominant",
            "description": "Σποραδική ή κληρονομική διαταραχή που χαρακτηρίζεται από εστιακό ή διάχυτο πολλαπλασιασμό των κυττάρων των νησιδίων του Langerhans στο πάγκρεας. Έχει ως αποτέλεσμα υπερινσουλιναιμία και υπογλυκαιμία.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0002177",
            "name": "Υπερινσουλινισμός",
            "genes": 9,
            "inheritance": null,
            "description": "Παθολογικά υψηλά επίπεδα ινσουλίνης στο αίμα.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hyperinsulinism"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-fatty-acylcarnitine-concentration",
        "name": "Abnormal circulating fatty acylcarnitine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-fatty-acylcarnitine-concentration"
      },
      {
        "slug": "acute-hepatic-failure",
        "name": "Acute liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/acute-hepatic-failure"
      },
      {
        "slug": "decreased-circulating-carnitine-concentration",
        "name": "Carnitine deficiency",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-carnitine-concentration"
      },
      {
        "slug": "hypoglycemic-coma",
        "name": "Coma caused by low blood sugar",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoglycemic-coma"
      },
      {
        "slug": "confusion",
        "name": "Confusion",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/confusion"
      },
      {
        "slug": "decreased-3-hydroxyacyl-coa-dehydrogenase-level",
        "name": "Decreased 3-hydroxyacyl-CoA dehydrogenase level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-3-hydroxyacyl-coa-dehydrogenase-level"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "elevated-circulating-c-peptide-concentration",
        "name": "Elevated circulating C-peptide concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-peptide-concentration"
      },
      {
        "slug": "elevated-urinary-dicarboxylic-acid-level",
        "name": "Elevated urinary dicarboxylic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-dicarboxylic-acid-level"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "fulminant-hepatic-failure",
        "name": "Fulminant hepatic failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/fulminant-hepatic-failure"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hepatic-necrosis",
        "name": "Hepatic necrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hepatic-necrosis"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "fasting-hyperinsulinemia",
        "name": "High blood insulin levels while fasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fasting-hyperinsulinemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hyperinsulinemic-hypoglycemia",
        "name": "Hyperinsulinemic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperinsulinemic-hypoglycemia"
      },
      {
        "slug": "hypoglycemic-encephalopathy",
        "name": "Hypoglycemic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoglycemic-encephalopathy"
      },
      {
        "slug": "hypoglycemic-seizures",
        "name": "Hypoglycemic seizures",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoglycemic-seizures"
      },
      {
        "slug": "hypoketotic-hypoglycemia",
        "name": "Hypoketotic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoketotic-hypoglycemia"
      },
      {
        "slug": "increased-circulating-free-fatty-acid-level",
        "name": "Increased circulating free fatty acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-free-fatty-acid-level"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "neonatal-hypoglycemia",
        "name": "Low blood sugar in newborn",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neonatal-hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "slug": "mildly-elevated-creatine-kinase",
        "name": "Mildly elevated creatine kinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mildly-elevated-creatine-kinase"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "myoglobinuria",
        "name": "Myoglobinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/myoglobinuria"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "prolonged-qt-interval",
        "name": "Prolonged QT interval",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/prolonged-qt-interval"
      },
      {
        "slug": "proportionate-short-stature",
        "name": "Proportionate short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proportionate-short-stature"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "gck",
        "symbol": "GCK",
        "name": "glucokinase",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/gck"
      },
      {
        "slug": "glud1",
        "symbol": "GLUD1",
        "name": "glutamate dehydrogenase 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/glud1"
      },
      {
        "slug": "kcnj11",
        "symbol": "KCNJ11",
        "name": "potassium inwardly rectifying channel subfamily J member 11",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/kcnj11"
      },
      {
        "slug": "slc16a1",
        "symbol": "SLC16A1",
        "name": "solute carrier family 16 member 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/slc16a1"
      },
      {
        "slug": "abcc8",
        "symbol": "ABCC8",
        "name": "ATP binding cassette subfamily C member 8",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/abcc8"
      },
      {
        "slug": "acad9",
        "symbol": "ACAD9",
        "name": "acyl-CoA dehydrogenase family member 9",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/acad9"
      },
      {
        "slug": "acadm",
        "symbol": "ACADM",
        "name": "acyl-CoA dehydrogenase medium chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/acadm"
      },
      {
        "slug": "acads",
        "symbol": "ACADS",
        "name": "acyl-CoA dehydrogenase short chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/acads"
      },
      {
        "slug": "acadvl",
        "symbol": "ACADVL",
        "name": "acyl-CoA dehydrogenase very long chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/acadvl"
      },
      {
        "slug": "etfa",
        "symbol": "ETFA",
        "name": "electron transfer flavoprotein subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/etfa"
      },
      {
        "slug": "etfb",
        "symbol": "ETFB",
        "name": "electron transfer flavoprotein subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/etfb"
      },
      {
        "slug": "etfdh",
        "symbol": "ETFDH",
        "name": "electron transfer flavoprotein dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/etfdh"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}