{
  "url": "https://dantelabs.com/el/genes/ehhadh",
  "gene": {
    "slug": "ehhadh",
    "symbol": "EHHADH",
    "name": "enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase",
    "hgnc": "HGNC:3247",
    "summary": null,
    "location": "3q27.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "ECHD"
    ],
    "ensemblId": "ENSG00000113790",
    "entrezId": 1962,
    "omim": [
      "607037"
    ],
    "uniprot": [
      "Q08426"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 185190624,
      "end": 185254049,
      "strand": "-",
      "ensemblTranscript": "ENST00000231887.8",
      "refseqTranscript": "NM_001966.4",
      "ensemblProtein": "ENSP00000231887.3",
      "refseqProtein": "NP_001957.2",
      "exons": [
        {
          "start": 185190624,
          "end": 185193487
        },
        {
          "start": 185204416,
          "end": 185204757
        },
        {
          "start": 185218136,
          "end": 185218240
        },
        {
          "start": 185229432,
          "end": 185229543
        },
        {
          "start": 185235290,
          "end": 185235462
        },
        {
          "start": 185248414,
          "end": 185248517
        },
        {
          "start": 185253949,
          "end": 185254049
        }
      ],
      "cds": {
        "start": 185192226,
        "end": 185254022
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 184908412,
      "end": 184999778,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 184722337,
      "end": 185722336,
      "genes": [
        {
          "symbol": "VPS8",
          "ensemblId": "ENSG00000156931",
          "biotype": "protein_coding",
          "start": 184812113,
          "end": 185054009,
          "strand": "+",
          "slug": "vps8"
        },
        {
          "symbol": "C3orf70",
          "ensemblId": "ENSG00000187068",
          "biotype": "protein_coding",
          "start": 185076838,
          "end": 185153654,
          "strand": "-",
          "slug": "c3orf70"
        },
        {
          "symbol": "MAP3K13",
          "ensemblId": "ENSG00000073803",
          "biotype": "protein_coding",
          "start": 185282941,
          "end": 185489094,
          "strand": "+",
          "slug": "map3k13"
        },
        {
          "symbol": "TMEM41A",
          "ensemblId": "ENSG00000163900",
          "biotype": "protein_coding",
          "start": 185475950,
          "end": 185499096,
          "strand": "-",
          "slug": "tmem41a"
        },
        {
          "symbol": "LIPH",
          "ensemblId": "ENSG00000163898",
          "biotype": "protein_coding",
          "start": 185506262,
          "end": 185552617,
          "strand": "-",
          "slug": "liph"
        },
        {
          "symbol": "SENP2",
          "ensemblId": "ENSG00000163904",
          "biotype": "protein_coding",
          "start": 185582496,
          "end": 185633551,
          "strand": "+",
          "slug": "senp2"
        },
        {
          "symbol": "IGF2BP2",
          "ensemblId": "ENSG00000073792",
          "biotype": "protein_coding",
          "start": 185643130,
          "end": 185825309,
          "strand": "-",
          "slug": "igf2bp2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "fanconi-renotubular-syndrome-renal-glucosuria",
        "name": "Σύνδρομο Fanconi νεφρικών σωληναρίων και νεφρική γλυκοζουρία",
        "diseases": [
          {
            "mondoId": "MONDO:0100238",
            "name": "Κληρονομικό σύνδρομο Fanconi νεφρικών σωληναρίων",
            "genes": 3,
            "inheritance": null,
            "description": "Ομάδα κληρονομικών διαταραχών του εγγύς νεφρικού σωληναρίου, που οφείλονται σε γονίδια όπως τα GATM, EHHADH και HNF4A, κατά τις οποίες χάνονται πολλές ουσίες στα ούρα, πράγμα που μπορεί να επηρεάσει τα οστά και τη νεφρική λειτουργία.",
            "management": "Η γνώση επιτρέπει την παρακολούθηση της νεφρικής λειτουργίας και της υγείας των οστών, καθώς και την αναπλήρωση των απολεσθέντων ανόργανων στοιχείων όπου χρειάζεται.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/fanconi-renotubular-syndrome-renal-glucosuria"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "abnormal-urine-ph",
        "name": "Abnormal urine pH",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-urine-ph"
      },
      {
        "slug": "bicarbonate-wasting-renal-tubular-acidosis",
        "name": "Bicarbonate-wasting renal tubular acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bicarbonate-wasting-renal-tubular-acidosis"
      },
      {
        "slug": "bicarbonaturia",
        "name": "Bicarbonaturia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bicarbonaturia"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bone-pain"
      },
      {
        "slug": "bowing-of-the-legs",
        "name": "Bowed legs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/bowing-of-the-legs"
      },
      {
        "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": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "hypercalciuria",
        "name": "Elevated urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypercalciuria"
      },
      {
        "slug": "generalized-aminoaciduria",
        "name": "Generalized aminoaciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-aminoaciduria"
      },
      {
        "slug": "glycosuria",
        "name": "Glucose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/glycosuria"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hyperphosphaturia",
        "name": "High urine phosphate levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hyperphosphaturia"
      },
      {
        "slug": "hyperuricosuria",
        "name": "High urine uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperuricosuria"
      },
      {
        "slug": "hyperchloremic-metabolic-acidosis",
        "name": "Hyperchloremic metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperchloremic-metabolic-acidosis"
      },
      {
        "slug": "hypophosphatemic-rickets",
        "name": "Hypophosphatemic rickets",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypophosphatemic-rickets"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "increased-urinary-potassium",
        "name": "Increased urinary potassium",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-urinary-potassium"
      },
      {
        "slug": "hypophosphatemia",
        "name": "Low blood phosphate level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypophosphatemia"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypouricemia",
        "name": "Low blood uric acid levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypouricemia"
      },
      {
        "slug": "low-molecular-weight-proteinuria",
        "name": "Low-molecular-weight proteinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/low-molecular-weight-proteinuria"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "proximal-renal-tubular-acidosis",
        "name": "Proximal renal tubular acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proximal-renal-tubular-acidosis"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "renal-phosphate-wasting",
        "name": "Renal phosphate wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-phosphate-wasting"
      },
      {
        "slug": "renal-sodium-wasting",
        "name": "Renal sodium wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-sodium-wasting"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "osteomalacia",
        "name": "Softening of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteomalacia"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "rickets",
        "name": "Weak and soft bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/rickets"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "gatm",
        "symbol": "GATM",
        "name": "glycine amidinotransferase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/gatm"
      },
      {
        "slug": "hnf4a",
        "symbol": "HNF4A",
        "name": "hepatocyte nuclear factor 4 alpha",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/hnf4a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}